Ataxia is typically defined as the presence of abnormal, uncoordinated movements. This usage describes signs & symptoms without reference to specific diseases. An unsteady, staggering gait is described as an ataxic gait because walking is uncoordinated and appears to be not ordered. Many motor activities may be described as ataxic if they appear to others, or are perceived by patients, as uncoordinated.

Ataxia can also refer to a group of neurological disorders in which motor behavior appears uncoordinated. Walking, speaking clearly, swallowing, writing, reading, and other activities that require fine motor control may be abnormal in patients with ataxia. Ataxia may result from abnormalities in different parts of the nervous system or different parts of the body, such as ataxic movements due to orthopedic injuries or pain from arthritis or muscle injury.

Ataxia may result from abnormalities in different parts of the nervous system, including the central nervous system (brain and spinal cord) and peripheral nervous system (roots and nerves that connect the central nervous system to muscles, skin, and the outside world). When patients experience abnormal walking or uncoordinated use of their hands or arms, dysfunction of the cerebellum is often responsible. The cerebellum is a rounded structure attached to the brainstem with a central portion (vermis) and two lateral lobes (cerebellar hemispheres). It sits beneath the back of the cerebral hemispheres (occipital cortices). The outer surface of the cerebellum is a continuous layer of nerve cells called the cerebellar cortex. The cortex is a three-layered sheet of neurons that are extensively interconnected and have a highly regular geometric organization. The cerebellar cortex receives information from most parts of the body and from many other regions of the brain. The cerebellum integrates this information and sends signals back to the rest of the brain that enable accurate and well coordinated movements.

Although unsteady gait may result from problems in different parts of the nervous system or of the body, abnormal walking due to cerebellar dysfunction has distinct features that are usually recognizable. Persons with an ataxic gait due to cerebellar dysfunction keep their legs further apart than normal, referred to clinically as a broadened base. They often stagger and resemble persons who have ingested excessive alcohol. The resemblance of ataxia to inebriation is not a coincidence as alcohol is known to affect the main nerve cells in the cerebellum. Although brief alcohol-induced staggering is usually reversible, repeated exposure to high doses of alcohol may cause degeneration of neurons in the cerebellum and result in persistent ataxia. Purkinje neurons are unusually susceptible to different forms of injury, including other toxins, prolonged seizures, and lack of oxygen. Cerebellar ataxia differs from gait problems due to abnormalities in other parts of the nervous system, such as the abnormal gait seen in Parkinsons disease, normal pressure hydrocephalus, or different forms of spasticity in the legs. Cerebellar ataxia is also distinguishable from abnormal walking due to pain and/or muscle or orthopedic abnormalities in the hips, legs, or feet.

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Ataxia Overview - Johns Hopkins Medicine

Spinocerebellar ataxia (SCA) or also known as Spinocerebellar atrophy or Spinocerebellar degeneration, is a progressive, degenerative,[1]genetic disease with multiple types, each of which could be considered a disease in its own right. An estimated 150,000 people in the United States are diagnosed with Spinocerebellar Ataxia. SCA's are the largest group of this hereditary, progressive, degenerative and often fatal neurodegenerative disorder. There is no known effective treatment or cure. Spinocerebellar Ataxia can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry the ataxia gene until they have children who begin to show signs of having the disorder.[2]

Most of the 60 different types of SCA that have been identified are diagnosed via autopsy, as there is no definitive test that can tell what type of SCA a living individual or if they have it at all. In 2008, a genetic ataxia blood test developed to test for 12 types of SCA, Friedreich's ataxia, and several others. However, in the SCA group, with so many different types most go with a diagnosis of SCA unidentified or unknown. Usually the diagnosis comes after examination by a neurologist, which includes a physical exam, family history, MRI scanning of the brain and spine, and spinal tap.[3]

Many SCAs below fall under the category of polyglutamine diseases, which are caused when a disease-associated protein (i.e., ataxin-1, ataxin-3, etc.) contains a large number of repeats of glutamine residues, termed a polyQ sequence or a "CAG triplet repeat disease" for either the one-letter designation or codon for glutamine respectively. The threshold for symptoms in most forms of SCA is around 35, though for SCA3 it extends beyond 50. Most polyglutamine diseases are dominant due to the interactions of resulting polyQ tail.[citation needed]

The first ataxia gene was identified in 1993 and called Spinocerebellar ataxia type 1" (SCA1); later genes were called SCA2, SCA3, etc. Usually, the "type" number of "SCA" refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations that have been found.[citation needed]

The following is a list of some of the many types of Spinocerebellar ataxia.

Others include SCA18, SCA20, SCA21, SCA23, SCA26, SCA28, and SCA29.

Four X-linked types have been described (302500, 302600, 301790, 301840), but only the first of these has so far been tied to a gene (SCAX1).

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination of hands, speech, and eye movements. A review of different clinical features among SCA subtypes was recently published describing frequent hand movements in patients, causing intentional tremor.[16] As with other forms of ataxia, SCA frequently results in atrophy of the cerebellum,[17] loss of fine coordination of muscle movements leading to unsteady and clumsy motion, and other symptoms.

The symptoms of an ataxia vary with the specific type and with the individual patient. In general, a person with ataxia retains full mental capacity but progressively loses physical control.

The hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. The hereditary ataxias can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

There is no known cure for spinocerebellar ataxia, which is considered to be a progressive and irreversible disease, although not all types cause equally severe disability. In general, treatments are directed towards alleviating symptoms, not the disease itself. Many patients with hereditary or idiopathic forms of ataxia have other symptoms in addition to ataxia. Medications or other therapies might be appropriate for some of these symptoms, which could include tremor, stiffness, depression, spasticity, and sleep disorders, among others. Both onset of initial symptoms and duration of disease are variable. If the disease is caused by a polyglutamine trinucleotide repeat CAG expansion, a longer expansion may lead to an earlier onset and a more radical progression of clinical symptoms. Typically, a person afflicted with this disease will eventually be unable to perform daily tasks (ADLs). However, rehabilitation therapists can help patients to maximize their ability of self-care and delay deterioration to certain extent. Stem cell research has been sought for a future treatment.[citation needed]

Physical therapists can assist patients in maintaining their level of independence through therapeutic exercise programs. In general, physical therapy emphasizes postural balance and gait training for ataxia patients.[18] General conditioning such as range-of-motion exercises and muscle strengthening would also be included in therapeutic exercise programs. Research showed that spinocerebellar ataxia 2 (SCA2) patients [19] with a mild stage of the disease gained significant improvement in static balance and neurological indices after six months of a physical therapy exercise training program.[20]Occupational therapists may assist patients with incoordination or ataxia issues through the use of adaptive devices. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait. Other devices are available to assist with writing, feeding, and self care if hand and arm coordination are impaired. A randomized clinical trial revealed that an intensive rehabilitation program with physical and occupational therapies for patients with degenerative cerebellar diseases can significantly improve functional gains in ataxia, gait, and activities of daily living. Some level of improvement was shown to be maintained 24 weeks post-treatment.[21] Speech language pathologists may use augmentative and alternative communication devices to help patients with impaired speech.

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Spinocerebellar ataxia - Wikipedia, the free encyclopedia

Historical Examples

Does not get on feet when turned on side; ataxia well marked.

His name was Sabathier, and for fifteen years he had been stricken with ataxia.

It seemed he was suffering from a form of ataxia, rapid in its progress and very painful.

Consequently it would be indicated under all circumstances where a nervous affection seemed to depend upon a state of ataxia.

She married a thirty-year-old active business man, in whom ataxia developed a year after marriage.

The usefulness of electricity in ataxia has been denied by some authors, while others praise it indiscriminately.

He had no ataxia or loss of sensibility in the upper half of the body.

Slight scoliosis of the vertebral column and a misshapen right foot recalled Friedreich's ataxia.

ataxia had declared itself; he was able to walk now only leaning on his servant's arm.

While I have used it with good effect in other conditions, it is in ataxia that I have found it of most value.

British Dictionary definitions for ataxia Expand

(pathol) lack of muscular coordination

Derived Forms

ataxic, atactic, adjective

Word Origin

C17: via New Latin from Greek: lack of coordination, from a-1 + -taxia, from tassein to put in order

Word Origin and History for ataxia Expand

also anglicized as ataxy, "irregularity of bodily functions," 1610s, "confusion, disorder," medical Latin, from Greek ataxia, from a-, privative prefix, + taxis "arrangement, order," from stem of tassein "to arrange" (see tactics). Pathological sense is attested from 1660s.

ataxia in Medicine Expand

ataxia ataxia (-tk's-) or ataxy (-tk's) n. Loss of the ability to coordinate muscular movement. Also called dyssynergia, incoordination.

ataxia in Science Expand

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Ataxia | Define Ataxia at Dictionary.com

Updated December 04, 2014.

When people discuss spinal cerebellar ataxia (SCA), they are actually referring to a group of neurodegenerative disorders that cause progressive clumsiness. There are more than 35 different types of spinal cerebellar ataxias, each caused by a different genetic mutation. Furthermore, new forms continue to be discovered.

Despite there being so many different variations, SCA is actually pretty rare. Even so, it is one of the most common causes of genetic ataxia.

Even among people with no family history who develop ataxia for no other clear reason, a new SCA mutation can be found about 20 percent of the time.

What Causes SCA?

SCA is due to a genetic mutation. Many types are due to so-called expansion mutations, in which several nucleotides (usually cytosine, adenosine, and guanine) repeat more than is found in healthy people. In the common form involving three nucleotides repeating, this is called a trinucleotide repeat. The result of that repetition is that a mutated form of protein is expressed, leading to disease symptoms.

Spinocerebellar ataxia is usually inherited in an autosomal dominant fashion, meaning that if one of the parents has the disorder, there is about a 50 percent chance that a child will have the disease as well.

As the name spinocerebellar ataxia suggests, the disease afflicts the cerebellum and more. The brainstem can also waste away (atrophy), especially in SCA types 1, 2, and 7. The regions of the atrophy often control eye movements, leading to abnormal findings when a neurologist performs their physical exam.

What Is the Prognosis in Spinal Cerebellar Atrophy?

Spinocerebellar ataxias due to repeat expansion mutations usually become sick in middle age. In addition to ataxia, other neurological findings are often present depending on the variant of SCA. In general, the longer the repeat is, the younger the patient will be when the symptoms come on, and the more rapid the disease progression.

In general, SCA type 1 is more aggressive than types 2 or 3, and type 6 is the least aggressive SCA due to a trinucleotide repeat. We dont have much information on other types of spinocerebellar ataxias, but most people will require a wheelchair 10 to 15 years after the symptoms come on. While most forms of SCA shorten the lifespan, this is not always the case.

How Is Spinocerebellar Atrophy Treated?

There is no cure for SCA. Medications such as zolpidem or varenicline have been suggested to help ataxia in SCA type 2 and 3 respectively.

SCA1

SCA1 causes about 3 to 16 percent of autosomal dominant cerebellar ataxias. In addition to ataxia, SCA1 is associated with difficulty speaking and swallowing. Increased reflexes are also common. Some patients also develop muscle wasting.

The mutation of SCA1 is a trinucleotide repeat in a region called ataxin 1. The mutated form of ataxin 1 clumps together in cells, and may change how nerve cells translate their own genetic codes. This is especially true in cells of the cerebellum.

SCA2

About 6 to 18 percent of people with spinocerebellar ataxia have SCA2. SCA 2 also causes coordination problems, but also causes slow eye movements. In severe cases, SCA 2 can cause developmental delay, seizures, and difficulty swallowing even in infancy.

SCA2 is caused by another trinucleotide repeat, this time encoding a protein called ataxin 2. Wheras SCA1 affects the nucleus of the cell and DNA, SCA2 seems to affect RNA and collects outside the nucleus.

SCA2 demonstrates how different people can suffer different symptoms even if they have the same mutation. An Italian family with SCA2 has suffered mental deterioration, and families from Tunesia have suffered chorea and dystonia.

SCA3

SCA3, better known as Machado-Joseph disease, is the most common autosomal dominant SCA, making up between 21 to 23 percent of SCA in the United States. In addition to ataxia, patients with Machado-Joseph have slow eye movements and difficulty swallowing. Cognitive impairments may also occur, as can dysautonomia. On the neurologists exam, patients with SCA3 may have a mixture of upper and lower motor neuron findings suggestive of amyotrophic lateral sclerosis.

SCA 4 and 5

These forms are less common, and are not due to trinucleotide repeats. SCA4 can have a peripheral neuropathy, but thats true of most spinocerebellar ataxias. SCA5 has almost no other symptoms than ataxia. SCA5 tends to be mild and progress slowly. Interestingly, the original mutation seems to have descended from the paternal grandparents of Abraham Lincoln.

SCA6

SCA6 accounts for 15 to 17 percent of SCA. The mutation is in a gene also associated with episodic ataxia and some forms of migraine. In addition to ataxia, an abnormal eye movement known as nystagmus may appear on the neurological examination.

SCA7

SCA7 only comprises 2 to 5 percent of autosomal dominant spinocerbellar ataxias. The symptoms depend on the age of the patient and the size of the repeat. Vision loss is sometimes associated with SCA7. In adults, this vision loss may come on before the ataxia. If the trinucleotide repeat is long, vision loss can actually come on first In childhood, seizures and heart disease come on with ataxia and vision loss.

Because the rest of the spinocerebellar ataxias are so rare, Im not going to discuss them in any detail. Most of the time, the symptoms are difficult to distinguish from other SCAs that weve already covered, but the genetic mutations are different.

For example, SCA8 is looks very much like other SCA, but is unusual in that rather than things getting worse with larger trinucleotide repeats, its only problem when there are 80 to 250 repeats. More or less doesnt seem to create a problem. SCA10 is a pentanucleotide repeat rather than a trinucleotide repeat. Some of these disorders, such as SCA25, have only been described in one family.

Other Spinocerebellar Ataxias

Although spinocerebellar ataxia is uncommon, it important for neurologists and patients to consider this diagnosis if there is a family history of clumsiness. A diagnosis of SCA may have important implications not just for the person immediately affected, but for their entire family as well.

Sources:

Geschwind DH, Perlman S, Figueroa CP, et al. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997; 60:842.

Moseley ML, Benzow KA, Schut LJ, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998; 51:1666.

Ranum LP, Lundgren JK, Schut LJ, et al. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet 1995; 57:603.

Storey E, du Sart D, Shaw JH, et al. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am J Med Genet 2000; 95:351.

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Spinocerebellar Ataxia - Genetic Clumsiness Disorders

Gluten ataxia symptoms can include loss of balance and nerve damage in your legs and arms. Getty Images/Juanmonino

Updated December 11, 2014.

Written or reviewed by a board-certified physician. See About.com's Medical Review Board.

Symptoms of gluten ataxia can range from progressive balance difficulties and unsteadiness on your feet to problems swallowing. You might have double vision, or even issues controlling your bladder. Your symptoms might come on slowly or might appear suddenly, but probably won't include gastrointestinal symptoms that could indicate celiac disease.

Researchers are only beginning to define gluten ataxia, and not all mainstream physicians agree that it's a valid diagnosis.

In addition, there are no recognized medical tests to diagnose gluten ataxia, although the top researchers in the field of celiac disease and gluten sensitivity have proposed a diagnostic procedure.

Nonetheless, various medical studies have outlined the symptoms of gluten ataxia, and have speculated on how many people might have gluten ataxia.

The symptoms of gluten ataxia are identical to those of other forms of ataxia, making it more challenging to provide a proper diagnosis. Gluten ataxia patients generally are in their late 40s or early 50s when diagnosed, although the medical literature notes several cases where the condition develops in young children or teens. Men and women are fairly equally represented.

In most cases, people notice problems with their gross motor skills first in other words, they'll be very clumsy, they'll walk unsteadily with a tendency to stumble or make missteps, and they'll generally be extremely uncoordinated.

Gluten ataxia sufferers may also notice problems with fine motor skills for example, someone with the condition might be unable to easily button a shirt or use a pen to write in longhand. Some patients also slur their words or have trouble speaking, and some have difficulty swallowing.

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Gluten Ataxia Symptoms: Poor Balance, Tingling in Feet

Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. Ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear as early as 18 months or as late as 30 years of age. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in) may be early signs. Rapid, rhythmic, involuntary movements of the eyeball are common. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart palpitations. Some individuals may develop diabetes. Doctors diagnose Friedreich's ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Several tests may be performed, including electromyogram (EMG) and genetic testing.

There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help patients maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs.

Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals become completely incapacitated. Most people with Friedreich's ataxia die in early adulthood if there is significant heart disease, the most common cause of death. Some people with less severe symptoms live much longer.

Studies have revealed that frataxin, a protein that should normally be present in the nervous system, the heart, and the pancreas, is severely reduced in patients with Friedreich's ataxia. Studies have shown that patients have abnormally high levels of iron in their heart tissue. It is believed that the nervous system, heart, and pancreas may be particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen) because once certain cells in these tissues are destroyed by free radicals they cannot be replaced. Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to free radical damage. The discovery of the genetic mutation that causes Friedreich's ataxia has added new impetus to research efforts on this disease.

Prepared by: Office of Communications and Public Liaison National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

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Friedreich's Ataxia Information Page: National Institute ...

Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function. The disease progresses until a wheelchair is required for mobility. Its incidence in the general population is roughly 1 in 50,000.

The particular genetic mutation (expansion of an intronic GAA triplet repeat in the FXN gene) leads to reduced expression of the mitochondrial protein frataxin. Over time this deficiency causes the aforementioned damage, as well as frequent fatigue due to effects on cellular metabolism.

The ataxia of Friedreich's ataxia results from the degeneration of nervous tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insulating covering on some nerve cells that helps conduct nerve impulses).

The condition is named after the German physician Nikolaus Friedreich, who first described it in the 1860s.[1]

Friedreich, working as a professor of pathology at the University of Heidelberg, reported five patients with the condition in a series of three papers in 1863.[2][3][4] Further observations appeared in a subsequent paper in 1876.[5]

Symptoms typically begin sometime between the ages of 5 to 15 years, but in Late Onset FA may occur in the 20s or 30s. Symptoms include any combination, but not necessarily all, of the following:

It presents before 25 years of age with progressive staggering or stumbling gait and frequent falling. Lower extremities are more severely involved. The symptoms are slow and progressive. Long-term observation shows that many patients reach a plateau in symptoms in the patient's early adulthood. On average, after 1015 years with the disease, patients are usually wheelchair bound and require assistance with all activities of daily living.[7]

The following physical signs may be detected on physical examination:

20% of cases are found in association with diabetes mellitus.[6]

Friedreich's ataxia is an autosomal recessive disorder that occurs when the FXN gene contains amplified intronic GAA repeats. The FXN gene encodes the protein frataxin.[8] GAA repeat expansion causes frataxin levels to be reduced. Frataxin is an iron-binding protein responsible for forming ironsulphur clusters. One result of frataxin deficiency is mitochondrial iron overload which can cause damage to many proteins.[8] The exact role of frataxin in normal physiology remains unclear.[9] The gene is located on chromosome 9.

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Friedreich's ataxia - Wikipedia, the free encyclopedia

Friedreich's ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.

In Friedreichs ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions).

Friedreichs ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. Although rare, Friedreichs ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.

Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood and on rare occasions as late as age 75. The first symptom to appear is usually gait ataxia, or difficulty walking. The ataxia gradually worsens and slowly spreads to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment.

Dysarthria (slowness and slurring of speech) develops and can get progressively worse. Many individuals with later stages of Friedreichs ataxia develop hearing and vision loss.

Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich's ataxia, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common.

About 20 percent of people with Friedreich's ataxia develop carbohydrate intolerance and 10 percent develop diabetes. Most individuals with Friedreichs ataxia tire very easily and find that they require more rest and take a longer time to recover from common illnesses such as colds and flu.

The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals may become completely incapacitated.

Friedreich's ataxia can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of Friedreich's ataxia live into their sixties, seventies, or older.

A diagnosis of Friedreich's ataxia requires a careful clinical examination, which includes a medical history and a thorough physical exam, in particular looking for balance difficulty, loss of proprioception (joint sensation), absence of reflexes, and signs of neurological problems. Genetic testing now provides a conclusive diagnosis. Other tests that may aid in the diagnosis or management of the disorder include:

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Friedreich's Ataxia Fact Sheet: National Institute of ...

What is ataxia?

Ataxia describes the lack of muscle coordination when a voluntary movement is attempted. It may affect any motion that requires muscles to work together to perform a function, from walking to picking up an object to swallowing.

Ataxia is a sign of an underlying medical problem and is not a disease.

The cerebellum is the region of the brain that is responsible for coordinating motion in the body. When the brain commands part of the body to move, electrical signals are transmitted through the spinal cord into peripheral nerves that then stimulate a muscle to contract, initiating movement. That part of the body also has sensory nerves that collect information from the environment about position and proprioception, where the body is in time and space. These signals return via the same peripheral nerves but through a different pathway in the spinal cord. The cerebellum takes this information, as well as input from vision from the eyes and balance from the vestibular system of the inner ear, to help smooth out purposeful movement. Failure of any one or more of these pathway components can lead to ataxia.

Cerebellar ataxia is caused by abnormalities and damage, either temporary or permanent, to the cerebellum. Sensory ataxia occurs when the dorsal columns of the spinal cord fail to function normally. They are responsible for carrying proprioception information from the body to the brain. Damage to parts of the brain that have to interpret the information may also cause sensory ataxia. Vestibular ataxia describes loss of balance because the vestibular canals fail to function properly.

Ataxia maybe inherited and caused by a genetic defect or it may be acquired due to structural damage to the cerebellum or spinal cord.

Genetic ataxia may be sex linked, meaning that the DNA and gene problem is located on an X or Y chromosome (the sex chromosomes) or it may be autosomal linked, where the abnormality is located on one of the other 23 pairs of chromosomes.

Spinocerebellar and episodic ataxias are examples of autosomal dominant ataxias. Friedreich ataxia and ataxia telangiectasia are autosomal recessive.

Structural damage to the brain may be caused by any lesion that decreases blood supply to or invades into brain tissue, cerebellum included. This may include trauma and bleeding, stroke or tumor, and multiple sclerosis.

Poisonings, chemical, electrolyte, hormonal abnormalities, and malnutrition are also potential causes that tend to globally affect brain and body function and may or may not be reversible. Alcohol is perhaps the most common poisoning to cause ataxia. Other causes include a variety of prescription medications including lithium and those medications used to treat seizure disorders. Recreational drugs like PCP, ketamine, and marijuana may cause ataxia. Mercury poisoning may cause ataxia. Vitamin B12 deficiency and hypothyroidism are other potential causes.

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Ataxia: Get Facts on This Disorder - MedicineNet

Being diagnosed with Ataxia can be overwhelming. Below are a few frequently asked questions that can help you to understand ataxia better.

The word "ataxia", comes from the Greek word, " a taxis" meaning "without order or incoordination". The word ataxia means without coordination. People with ataxia have problems with coordination because parts of the nervous system that control movement and balance are affected. Ataxia may affect the fingers, hands, arms, legs, body, speech, and eye movements. The word ataxia is often used to describe a symptom of incoordination which can be associated with infections, injuries, other diseases, or degenerative changes in the central nervous system. Ataxia is also used to denote a group of specific degenerative diseases of the nervous system called the hereditary and sporadic ataxias which are the National Ataxia Foundation's primary emphases.

Diagnosis is based on a person's medical history, family history, and a complete neurological evaluation including an MRI scan of the brain. Various blood tests may be performed to rule out other possible disorders which may present similar symptoms. Genetic blood tests are now available for some types of hereditary ataxia to confirm a diagnosis or as a predictive test to determine if someone has inherited an ataxia gene known to affect other family members.

Symptoms and time of onset vary according to the type of ataxia. In fact there are often variations even within the same family with the same type of ataxia. Recessive disorders commonly cause symptoms to begin in childhood rather than adulthood. However, in recent years since genetic testing became available, it is now known the Friedreich's ataxia has an adult onset on some occasions. Dominant ataxia often begins in the 20s or 30s or even later in life. Sometimes individuals may not show symptoms until they are in their 60s.

Typically balance and coordination are affected first. In coordination of hands, arms, and legs, and slurring of speech are other common symptoms. Walking becomes difficult and is characterized by walking with feet placed further apart to compensate for poor balance. Impaired coordination of the arms and hands affect a person's ability to perform tasks requiring fine motor control such as writing and eating. Slow eye movements can be seen in some form of ataxia. As time goes on, ataxia can affect speech and swallowing.

The hereditary ataxias are degenerative disorders that progress over a number of years. How severe the disability will become and whether the disease will lead to death depends on type of ataxia, the age of onset of symptoms and other factors that are poorly understood at this time. Respiratory complications can be fatal in a person who is bed bound or who has severe swallowing problems. Some persons with Friedreich's ataxia develop serious cardiac problems.

There is a large group of people who have symptoms of ataxia that usually begin in adulthood and who have no known family history of this disease. This is called sporadic ataxia and it can be difficult to diagnose. There are many acquired and hereditary causes of ataxia which must be ruled out before a diagnosis of sporadic ataxia can be made. Sporadic ataxia can be either "pure cerebellar" if only the cerebellum is affected or cerebellar plus, if the ataxia is accompanied by additional symptoms such a neuropathy (dysfunction of the peripheral nerves); dementia (impaired intellectual function); or weakness, rigidity, or spasticity of the muscles. Disability may be greater and progress more quickly with the cerebellar plus form of sporadic ataxia. The cerebellar plus form of sporadic ataxia is also known as sporadic olivopontocerebellar ataxia ( sporadic OPCA) or multiple system atrophy, cerebellar type (MSA-C).

For people who have ataxia as a symptom of other medical conditions such as head injury, stroke, MS, alcoholism, etc., we recommend that you contact the organization related to your specific condition for the most up-to-date and accurate information.

The hereditary and sporadic ataxias are a complex group of diseases and this information is but a brief overview. You are welcome to download the ataxia information sheets from this website or contact the National Ataxia Foundation for additional information on hereditary and sporadic ataxias as well as more information on the genetics involved. This information is not intended in any way to replace information you have received from your doctor(s). Please note that we cannot answer specific questions concerning your situation, recommend drugs or suggest diagnosis. Please discuss these concerns with your doctor.

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National Ataxia Foundation - Diagnosis

Home, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info

Myelinated nerve fibers in the retina

Types: Usually recessive 1: INPP5E; 9q34 2: TMEM216; 11q12 3: AHI1; 6q23 4: NPHP1; 2q13 5: CEP290; 12q21 6: TMEM67; 8q22 7: RPGRIP1L; 16q12 8: ARL13B; 3q11 9: CC2D2A; 4p15 10: OFD1 (CXORF5); Xp22 11: TTC21B; 2q24; Dominant 12: KIF7; 15q26 13: TCTN1; 12q24 14: TMEM237; 2q33 15: CEP41; 7q32 15A: TCTN2; 12q24 16: TMEM138; 11q12 17: c5orf42; 5p13 18: TCTN3; 10q24 19: ZNF423; 16q12 20: TMEM231; 16q23 21: CSPP1; 8q13 22: PDE6D; 2q37 Joubert: EXOC8; 1q42 COACH syndromes CC2D2A; 4p15 TMEM67; 8q22 Nephronophthisis ATXN10; 22q13.31

Molar Tooth Sign

Metabolic ataxias

References 1. Neurology 2001;56:849-855, Neurology 2003;60:12061208, Neurology 2004;62:818820, Neurology 2007;68:295-297 2. J Med Genet 2000;37:1-8, Pediatr Neurol 2003;28:335-341, J Neurol 2009;256 (Supp 1):3-8 3. Neurology 2000;54:1408-1414, Arch Neurol 2003;60:982-988 4. Am J Med Genet 2000;92:53-56 5. Med Genet 1999;36:759-766 6. Neurology. 2000;55:99-104. 7. Nature Genetics 2000;26:93-96 8. Am J Hum Genet 2000;67:1320-1326, Nature Genetics 2004; March 9. Am J Hum Genet 2001;68:501-508, Arch Neurol 2001;58:173-174, Hum Mol Genet 2004 Online March 10. Neurology 2001;57:1412-1414 11. Neurogenetics 2001;3:127-132 12. Neurology 2001;57:1043-1049 13. Heart 2002;87:346-349 14. Neurology 2001;57:127-130, Brain 2002;125:1760-1771, Am J Hum Genet 2003;72:869878 15. J Clin Endocrinol Metab, April 2002:87:16071612, Pediatr Neurol 2010;42:359-364, N Engl J Med 2013;368:1992-2003 16. Am J Ophthalmol 2002:133:410-413 17. Brain 2003;126 August, J Med Genet 2003;40:441446 18. Neurology 2003;61:274-275 19. Am J Hum Genet 2003; Online August 20. Nature Genet 2003; Online October 21. Brain 2006; On-line May 3, PLoS Biol 2012;10:e1001288 22. Nature Genet 2004; Online August 23. Nature Genet 2004; Online September 24. Nature Genet 2004; Online November 25. Neurology 2005;64:142144 26. Ann Neurol 2005;57:513519 27. Paediatr Anaesth 2005;15:433-434 28. Ann Neurol 2005 Jul 26 29. Hum Mol Genet 2005; Online Aug 30. Nature Genetics 2005; Online Nov 13 31. J Hum Genet 2006; Jul 11 32. Nat Genet 2006 Dec 10 33. Nat Genet 2007;39:534-539 34. Brain 2007; Online April Brain 2013; Online December 35. Neurology 2004;62:818-820 36. Nature Genetics 2007; Online June A; B 37. Am J Human Genet 2007; Online July 38. Am J Med Genet A 2008 Feb 1 39. Am J Human Genet 2008;82:623630, 2008;82:661672 40. Am J Med Genet Part A 143A:22562260 41. Am J Human Genet 2008; Online Aug 42. Nature Genet 2008; Online August 43. Nature Genet 2007;39:454-456 44. Nat Genet 2008 Aug 17 45. Am J Hum Genet 2008 Oct 22 46. American Journal of Human Genetics 2008; November 47. Hum Mutat 2008 Dec 4 48. American Journal of Medical Genetics 2009 Jan 21 49. Proc Natl Acad Sci U S A 2009 Mar 16, NEJM 2009;360:1960-1970 50. PLoS Genet 2009 May;5(5):e1000487 51. Nature Genet 2009; Online August 52. Semin Pediatr Neurol 2009;16:143154 53. American Journal of Human Genetics 2009; October 54. Am J Hum Genet 2009; Online Dec 55. Ann Neurol 2010;68:259-263 56. Neurogenetics 2010; Online July, Am J Human Genet 2011;89-415-423 57. Am J Hum Genet 2010; Online Nov 58. Nature Genetics 2011; On Line January 59. Am J Human Genetics 2011; Online May, Brain 2013 Feb 28 60. Am J Human Genetics 2011;89:320327 61. Cell 2011;145:513-528 62. Human Mutation 2011; Online November 63. Am J Human Genet 2011;89:713-730 64. Nature Genetics 2012: Online Jan 65. European Journal of Human Genetics 2012; On line Jan 66. Am J Human Genet 2012; Online March 67. Arch Neurol 2012; Online Mar 68. J Neurol 2012 May 26 69. Eur J Hum Genet 2012 Aug 15, Plos Genet 2012;8:e1002853 70. Am J Human Genet 2012; Online August 71. Nature Genetics 2012; Online September 72. J Child Neurology 2013; Online April 73. Cerebellum 2013; Online June 74. European Journal of Human Genetics 2013; Online July 75. Cerebellum 2013; Online October 76. Muscle Nerve 2013; Online October 77. PLoS One 2013 Dec 2;8(12):e81884, Hum Mol Genet 2013 Oct 16 78. Brain 2013; Online December 79. Neurology 2014;82: Online February 80. Nature Genetics 2014; Online March 81. Cerebellum 2014;13:79-88, Am J Human Genet 2014; Online August 82. J Neurol 2014;261:21922198 83. Am J Human Genet 2014; Online Nov 84. Am J Human Genet 2015; Online Feb 85. Brain 2015; Online March 86. Brain 2015 Jun 11

6/18/2015

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Ataxia: Recessive - Neuromuscular Home Page

Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.

Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a persons nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration.

Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreichs ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history.

Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.

There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. A variety of drugs may be used to either effectively prevent symptoms or reduce the frequency with which they occur. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life.

The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.

The NINDS supports and conducts a broad range of basic and clinical research on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and, ultimately, prevent them. Scientists are optimistic that understanding the genetics of these disorders may lead to breakthroughs in treatment.

Prepared by: Office of Communications and Public Liaison National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

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NINDS - Ataxia

Ataxia (from Greek - [a negative prefix] + - [order] = "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that includes gait abnormality. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. Several possible causes exist for these patterns of neurological dysfunction. Dystaxia is a mild degree of ataxia. Friedrich's ataxia has gait abnormality as the most common presenting symptom.[1]

The term cerebellar ataxia is used to indicate ataxia that is due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. Although ataxia is not present with all cerebellar lesions, many conditions affecting the cerebellum do produce ataxia.[2] People with cerebellar ataxia may have trouble regulating the force, range, direction, velocity and rhythm of muscle contractions.[3] This results in a characteristic type of irregular, uncoordinated movement that can manifest itself in many possible ways, such as asthenia, asynergy, delayed reaction time, and dyschronometria.[citation needed] Individuals with cerebellar ataxia could also display instability of gait, difficulty with eye movements, dysarthria, dysphagia, hypotonia, dysmetria and dysdiadochokinesia.[2] These deficits can vary depending on which cerebellar structures have been damaged, and whether the lesion is bilateral or unilateral.

People with cerebellar ataxia may initially present with poor balance, which could be demonstrated as an inability to stand on one leg or perform tandem gait. As the condition progresses, walking is characterized by a widened base and high stepping, as well as staggering and lurching from side to side.[2] Turning is also problematic and could result in falls. As cerebellar ataxia becomes severe, great assistance and effort are needed to stand and walk.[2]Dysarthria, an impairment with articulation, may also be present and is characterized by "scanning" speech that consists of slower rate, irregular rhythm and variable volume.[2] There may also be slurring of speech, tremor of the voice and ataxic respiration. Cerebellar ataxia could result with incoordination of movement, particularly in the extremities. There is overshooting with finger to nose testing, and heel to shin testing; thus, dysmetria is evident.[2] Impairments with alternating movements (dysdiadochokinesia), as well as dysrhythmia, may also be displayed. There may also be tremor of the head and trunk (titubation) in individuals with cerebellar ataxia.[2]

It is thought that dysmetria is caused by a deficit in the control of interaction torques in multijoint motion.[4] Interaction torques are created at an associated joint when the primary joint is moved. For example, if a movement required reaching to touch a target in front of the body, flexion at the shoulder would create a torque at the elbow, while extension of the elbow would create a torque at the wrist. These torques increase as the speed of movement increases and must be compensated and adjusted for to create coordinated movement. This may, therefore, explain decreased coordination at higher movement velocities and accelerations.

The term sensory ataxia is employed to indicate ataxia due to loss of proprioception, the loss of sensitivity to the positions of joint and body parts. This is generally caused by dysfunction of the dorsal columns of the spinal cord, because they carry proprioceptive information up to the brain. In some cases, the cause of sensory ataxia may instead be dysfunction of the various parts of the brain which receive positional information, including the cerebellum, thalamus, and parietal lobes.

Sensory ataxia presents itself with an unsteady "stomping" gait with heavy heel strikes, as well as a postural instability that is usually worsened when the lack of proprioceptive input cannot be compensated for by visual input, such as in poorly lit environments.

Physicians can find evidence of sensory ataxia during physical examination by having the patient stand with his/her feet together and eyes shut. In affected patients, this will cause the instability to worsen markedly, producing wide oscillations and possibly a fall. This is called a positive Romberg's test. Worsening of the finger-pointing test with the eyes closed is another feature of sensory ataxia. Also, when the patient is standing with arms and hands extended toward the physician, if the eyes are closed, the patient's finger will tend to "fall down" and then be restored to the horizontal extended position by sudden muscular contractions (the "ataxic hand").

The term vestibular ataxia is employed to indicate ataxia due to dysfunction of the vestibular system, which in acute and unilateral cases is associated with prominent vertigo, nausea and vomiting. In slow-onset, chronic bilateral cases of vestibular dysfunction, these characteristic manifestations may be absent, and dysequilibrium may be the sole presentation.

The three types of ataxia have overlapping causes, and therefore can either coexist or occur in isolation.

Any type of focal lesion of the central nervous system (such as stroke, brain tumour, multiple sclerosis) will cause the type of ataxia corresponding to the site of the lesion: cerebellar if in the cerebellum, sensory if in the dorsal spinal cord (and rarely in the thalamus or parietal lobe), vestibular if in the vestibular system (including the vestibular areas of the cerebral cortex).

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Ataxia - Wikipedia, the free encyclopedia

Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays. Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.

There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and occupational therapy help to maintain flexibility. Speech therapy is important, teaching children to control air flow to the vocal cords. Gamma-globulin injections may be useful if immunoglobulin levels are sufficiently reduced to weaken the immune system. High-dose vitamin regimens and antioxidants such as alpha lipoic acid also may also be used.

Average lifespan has been improving for years, for unknown reasons, and varies with the severity of the underlying mutations, ATM (ataxia-telangiectasia mutated) protein levels, and residual ATM kinase activity. Some individuals with later onset of disease and slower progression survive into their 50s.

NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at A-T drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group whose members include NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD.

Prepared by: Office of Communications and Public Liaison National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

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Ataxia Telangiectasia Information Page: National Institute ...

Welcome to the National Ataxia Foundation

As a member you help provide those with ataxia a better life and hope for a brighter tomorrow. NAF is a membership based nonprofit organization dedicated to serving ataxia families. We are grateful for the support of our members and welcome others to also join.

As a thank you for being a valued member, you will receive discounts in attending the annual membership meeting as well as a subscription to the NAFs in-depth quarterly ataxia news publication, Generations.

Be Part of Team NAFbecome a member today! Please ask your friends, family, co-workers, and neighbors to also become a member. Thank you!

Become A Member Letter From The President Recurring Gift Membership

The National Ataxia Foundation (NAF) is pleased to announce that 23 promising ataxia research studies from the United States, Belgium, Mexico, United Kingdom, Portugal, and Germany were awarded funding at the December 2014 NAF Board of Directors meeting for fiscal year 2015. With the funding of these 23 research studies and the previous research studies funded earlier in 2014, nearly one million dollars were committed for ataxia research. Click here for more information.

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National Ataxia Foundation

Friedreich Ataxia testing

By: biru muda

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Friedreich Ataxia testing - Video

ATAXIA-F - Desmembrados - VI CuzcuMetal Fest 2015

By: ExTReMeTubE CHaNeL Ivan Garcia

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ATAXIA-F - Desmembrados - VI CuzcuMetal Fest 2015 - Video

Ataxia telangiectasia (A-T) (also referred to as LouisBar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.[1]

A-T affects many parts of the body:

Symptoms most often first appear in early childhood (the toddler stage) when children begin to walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still or sitting, and may appear almost as if they are drunk. In late pre-school and early school age they develop difficulty moving the eyes in a natural manner from one place to the next (oculomotor apraxia). They develop slurred or distorted speech, and swallowing problems. Some have an increased number of respiratory tract infections (ear infections, sinusitis, bronchitis, and pneumonia). Because not all children develop in the same manner or at the same rate, it may be some years before A-T is properly diagnosed. Most children with A-T have stable neurologic symptoms for the first 45 years of life, but begin to show increasing problems in early school years.

A-T is caused by a defect in the ATM gene,[2] which is responsible for managing the cells response to multiple forms of stress including double-strand breaks in DNA. In simple terms, the protein produced by the ATM gene recognizes that there is a break in DNA, recruits other proteins to fix the break, and stops the cell from making new DNA until the repair is complete.[3]

There is substantial variability in the severity of features of A-T between affected individuals, and at different ages. The following symptoms or problems are either common or important features of A-T:

Many children are initially misdiagnosed as having ataxic cerebral palsy. The diagnosis of A-T may not be made until the preschool years when the neurologic symptoms of impaired gait, hand coordination, speech and eye movement appear or worsen, and the telangiectasia first appear. Because A-T is so rare, doctors may not be familiar with the symptoms, or methods of making a diagnosis. The late appearance of telangiectasia may be a barrier to the diagnosis. It may take some time before doctors consider A-T as a possibility because of the early stability of symptoms and signs.

The first indications of A-T usually occur during the toddler years.[4][5] Children start walking at a normal age, but may not improve much from their initial wobbly gait. Sometimes they have problems standing or sitting still and tend to sway backward or from side to side. In primary school years walking becomes more difficult, and children will use doorways and walls for support. Children with A-T often appear better when running or walking quickly in comparison to when they are walking slowly or standing in one place. Around the beginning of their second decade children with typical forms of A-T start using a wheelchair for long distances. During school years children may have increasing difficulty with reading because of impaired coordinating of eye movement. At the same time other problems with fine motor functions (writing, coloring, and using utensils to eat), and with slurring of speech (dysarthria) may arise. Most of these neurologic problems stop progressing after the age of about 12 15 years, though involuntary movements may start at any age and may worsen over time. These extra movements can take many forms, including small jerks of the hands and feet that look like fidgeting (chorea), slower twisting movements of the upper body (athetosis), adoption of stiff and twisted postures (dystonia), occasional uncontrolled jerks (myoclonic jerks), and various rhythmic and non-rhythmic movements with attempts at coordinated action (tremors).

Prominent blood vessels (telangiectasia) over the white (sclera) of the eyes usually occur by the age of 58 years, but sometimes later or not at all.[6] The absence of telangiectasia does not exclude the diagnosis of A-T. Potentially a cosmetic problem, the ocular telangiectasia do not bleed or itch, though they are sometimes misdiagnosed as chronic conjunctivitis. It is their constant nature, not changing with time, weather or emotion, that marks them as different from other visible blood vessels. Telangiectasia can also appear on sun-exposed areas of skin, especially the face and ears. They occur in the bladder as a late complication of chemotherapy with cyclophosphamide, have been seen deep inside the brain of older people with A-T, and occasionally arise in the liver and lungs.

About two-thirds of people with A-T have abnormalities of the immune system.[7] The most common abnormalities are low levels of one or more classes of immunoglobulins (IgG, IgA, IgM or IgG subclasses), not making antibodies in response to vaccines or infections, and having low numbers of lymphocytes (especially T-lymphocytes) in the blood. Some people have frequent infections of the upper (colds, sinus and ear infections) and lower (bronchitis and pneumonia) respiratory tract. All children with A-T should have their immune systems evaluated to detect those with severe problems that require treatment to minimize the number or severity of infections. Some people with A-T need additional immunizations (especially with pneumonia and influenza vaccines), antibiotics to provide protection (prophylaxis) from infections, and/or infusions of immunoglobulins (gamma globulin). The need for these treatments should be determined by an expert in the field of immunodeficiency or infectious diseases.

People with A-T have a highly increased incidence (approximately 25% lifetime risk) of cancers, particularly lymphomas and leukemia, but other cancers can occur.[8] When possible, treatment should avoid the use of radiation therapy and chemotherapy drugs that work in a way that is similar to radiation therapy (radiomimetic drugs), as these are particularly toxic for people with A-T. The special problems of managing cancer are sufficiently complicated that treatment should be done only in academic oncology centers and after consultation with physicians who have specific expertise in A-T. Unfortunately, there is no way to predict which individuals will develop cancer. Because leukemia and lymphomas differ from solid tumors in not progressing from solitary to metastatic stages, there is less need to diagnose them early in their appearance. Surveillance for leukemia and lymphoma is thus not helpful, other than considering cancer as a diagnostic possibility whenever possible symptoms of cancer (e.g. persistent swollen lymph glands, unexplained fever) arise.

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Ataxia telangiectasia - Wikipedia, the free encyclopedia

Chaos Ataxia Play - Hearthstone: Round 1
Ataxia finally decided to play Hearthstone, and who better to test his mettle than Chaos?

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Chaos & Ataxia Play - Hearthstone: Round 1 - Video

Friedreich #39;s ataxia (Medical Condition)
Symptoms, risk factors and treatments of Friedreich #39;s ataxia (Medical Condition) Friedreich #39;s ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous...

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Friedreich's ataxia (Medical Condition) - Video