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.
Read this article:
Spinocerebellar ataxia - Wikipedia, the free encyclopedia
- Cerebellar ataxia [Last Updated On: August 18th, 2024] [Originally Added On: May 9th, 2011]
- Ataxia 05 The Empty's Responce [Last Updated On: August 18th, 2024] [Originally Added On: May 10th, 2011]
- Ataxia - The Empty's Response [Last Updated On: August 18th, 2024] [Originally Added On: May 10th, 2011]
- Ataxia - The Empty's Response [Last Updated On: August 18th, 2024] [Originally Added On: May 10th, 2011]
- Ataxia 05 The Empty's Responce [Last Updated On: August 18th, 2024] [Originally Added On: May 10th, 2011]
- spinocerebellar ataxia [Last Updated On: August 18th, 2024] [Originally Added On: May 16th, 2011]
- Ataxic Dysarthria speaker give Toastmaster Speech 4 w/minimal reading or notes [Last Updated On: August 18th, 2024] [Originally Added On: June 8th, 2011]
- Introduction to Friedreich's Ataxia and FARA [Last Updated On: August 18th, 2024] [Originally Added On: June 10th, 2011]
- Introduction to Friedreich's Ataxia and FARA [Last Updated On: August 18th, 2024] [Originally Added On: June 10th, 2011]
- Friedreich Ataxia [Last Updated On: August 18th, 2024] [Originally Added On: June 10th, 2011]
- Ataxia telangiectasia -- Dr.J.Bhaskar - Part 1 of 2 [Last Updated On: August 18th, 2024] [Originally Added On: June 19th, 2011]
- Abnormal Gait Exam : Ataxic Gait Demonstration [Last Updated On: August 18th, 2024] [Originally Added On: June 30th, 2011]
- Ataxia The Soldier live [Last Updated On: August 18th, 2024] [Originally Added On: July 12th, 2011]
- David Blair - Spinocerebellar Ataxia [Last Updated On: August 18th, 2024] [Originally Added On: July 18th, 2011]
- Ataxic Cerebral Palsy [Last Updated On: August 18th, 2024] [Originally Added On: July 23rd, 2011]
- Cerebral Palsy: Diagnosis [Last Updated On: August 18th, 2024] [Originally Added On: July 29th, 2011]
- Ataxia - Stem Cell Treatment TV Special (Part 1) [Last Updated On: August 18th, 2024] [Originally Added On: August 4th, 2011]
- Joseph, Friedreich's Ataxia, before stem cell treatment at Tiantan Puhua Hospital Beijing [Last Updated On: August 18th, 2024] [Originally Added On: September 18th, 2011]
- Joseph, Friedreich's Ataxia, before stem cell treatment at Tiantan Puhua Hospital Beijing [Last Updated On: August 18th, 2024] [Originally Added On: September 18th, 2011]
- Martin - Ataxia Stem Cell Patient [Last Updated On: August 18th, 2024] [Originally Added On: October 6th, 2011]
- Ataxia - The Sides (Music Video) [Last Updated On: August 18th, 2024] [Originally Added On: October 6th, 2011]
- Brian - Ataxia Survivor Part 1 - Video [Last Updated On: August 18th, 2024] [Originally Added On: October 14th, 2011]
- Kyle Bryant on Living With Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: October 29th, 2011]
- Kyle Bryant on Living With Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: October 29th, 2011]
- Webcast : Ataxia Telangiectasia (AT) - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 10th, 2011]
- Friedreich Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 13th, 2011]
- Spinocerebellar Ataxia Disease - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 14th, 2011]
- Ataxia Angel : Marguerite Black - Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 20th, 2011]
- Ataxia Angel : Marguerite Black - Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 20th, 2011]
- Ataxic Dysarthria Toastmaster speech 18 - Video [Last Updated On: August 18th, 2024] [Originally Added On: December 14th, 2011]
- Ataxia -addition (LIVE) - Video [Last Updated On: August 18th, 2024] [Originally Added On: December 18th, 2011]
- What is Ataxia? - Video [Last Updated On: August 18th, 2024] [Originally Added On: January 8th, 2012]
- Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: January 12th, 2012]
- Episodic Ataxia Documentary - Video [Last Updated On: August 18th, 2024] [Originally Added On: January 16th, 2012]
- Living with Cerebellar Hypoplasia (Ataxia) - Ethans Story - Video [Last Updated On: August 18th, 2024] [Originally Added On: January 25th, 2012]
- BBC - My Autism and Me - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- Autism Speaks/Ad Council Awareness PSA featuring Tommy Hilfiger - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- Apps for Autism - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- 10-Year-Old Blind Autistic Boy Sings "Open the Eyes of my Heart" - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- Illinois Company Seeks Adults With Autism - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- 10-Year-Old Blind Autistic Boy Sings "Open the Eyes of my Heart" - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- Jeremy Davidson on the Freidrich's Ataxia Research Alliance - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Jeremy Davidson on the Freidrich's Ataxia Research Alliance - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Ataxia resulting from brain tumour in 3 year old girl. - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Fighting Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Fighting Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Cerebellar Ataxia: Informative Speech - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Within The Ruins - Ataxia (BEST QUALITY W/DOWNLOAD LINK) - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Ataxia- The Sides - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Joseph, Friedreich's Ataxia, after stem cell treatment at Tiantan Puhua Hospital Beijing - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Joseph, Friedreich's Ataxia, after stem cell treatment at Tiantan Puhua Hospital Beijing - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Jospeh, Friedreich's Ataxia, physical therapy after stem cell treatment - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Ataxia / Ataxic Dysarthria Alice_Speech_11.MOD - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Jospeh, Friedreich's Ataxia, physical therapy after stem cell treatment - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- H1N1 Vaccine (Nasal Mist): Ataxia Side Effects - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- ViroPharma to Release 2011 Fourth Quarter and Full Year Financial Results on February 28, 2012 [Last Updated On: August 18th, 2024] [Originally Added On: February 16th, 2012]
- PRINCETON: Contest to raise funds for boy with rare disease [Last Updated On: August 18th, 2024] [Originally Added On: February 16th, 2012]
- Wish granted for Penta student [Last Updated On: August 18th, 2024] [Originally Added On: February 16th, 2012]
- Working with Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 24th, 2012]
- Opsoclonus Myoclonus Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 24th, 2012]
- More on movement disorders [Last Updated On: August 18th, 2024] [Originally Added On: February 24th, 2012]
- In Saguenay, a family takes on a disease that haunts the region [Last Updated On: August 18th, 2024] [Originally Added On: February 26th, 2012]
- Exciting developments [Last Updated On: August 18th, 2024] [Originally Added On: February 26th, 2012]
- Ataxia Long Term Disability.MOD - Dysarthria speaker gives Long Term Disability Toastmaster speech - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 26th, 2012]
- Rare disease strikes family [Last Updated On: August 18th, 2024] [Originally Added On: February 28th, 2012]
- Ataxia - Ataxic gait - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 28th, 2012]
- Evie Read is an active five-year-old - but ataxia-telangiectasia will rob her of ability to speak and walk while ... [Last Updated On: August 18th, 2024] [Originally Added On: February 29th, 2012]
- Denton bike riders aim to beat rare disease [Last Updated On: August 18th, 2024] [Originally Added On: March 26th, 2012]
- Multiple Sclerosis Patients Find Improvement in Walking with BalanceWear® [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Cypress resident crowned Little Miss Wheelchair Texas [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Man charged with leaving mercury in Albany Med cafeteria now facing federal charges [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Interim results of VITOBA™ (VImpaT® added to One Baseline AED) Study Presented at the 64th Annual Meeting of the ... [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Man arrested or planting mercury at Albany Med faces federal charges [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Davis bike ride to raise funds for disease [Last Updated On: August 18th, 2024] [Originally Added On: May 3rd, 2012]
- Searching for a cure [Last Updated On: August 18th, 2024] [Originally Added On: May 3rd, 2012]
- ViroPharma to Participate in Two May Healthcare Investor Conferences [Last Updated On: August 18th, 2024] [Originally Added On: May 3rd, 2012]
- Veterinary Q&A: Outdoor plants and your pets [Last Updated On: August 18th, 2024] [Originally Added On: May 11th, 2012]
- Veterinary Q&A: Outdoor plants and your pets [Last Updated On: August 18th, 2024] [Originally Added On: May 11th, 2012]
- Sam Bridgman: The University of Portland comes together to help support one of its own [Last Updated On: August 18th, 2024] [Originally Added On: May 25th, 2012]
- Prayer for Mercy: Henderson family seeks a cure for 6-year-old's unique condition [Last Updated On: August 18th, 2024] [Originally Added On: May 25th, 2012]