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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia type 6


Other Names for this Disease
  • SCA6
  • Spinocerebellar ataxia 6
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Overview



What is spinocerebellar ataxia type 6 (SCA6)?

What is the outlook for individuals diagnosed with spinocerebellar ataxia type 6 (SCA6)?

How might spinocerebellar ataxia type 6 (SCA6) be treated?


What is spinocerebellar ataxia type 6 (SCA6)?

Spinocerebellar ataxia type 6 (SCA6) is a neurological condition characterized by progressive problems with movement. Initial symptoms include problems with coordination and balance (ataxia). Other early signs and symptoms include speech difficulties (dysarthria), involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia). The signs and symptoms of SCA6 typically begin in a person's forties or fifties. Most people with this disorder require wheelchair assistance by the time they are in their sixties. Spinocerebellar ataxia type 6 is caused by mutations in the CACNA1A gene. This condition is inherited in an autosomal dominant pattern.[1]
Last updated: 10/10/2012

What is the outlook for individuals diagnosed with spinocerebellar ataxia type 6 (SCA6)?

The severity of symptoms associated with SCA6 varies, even within families. In most cases, symptoms develop in the forties or fifties and progress slowly.[1][2][3] Over time, most individuals with SCA6 develop gait ataxia, loss of coordination in their arms, tremors, uncontrolled muscle tensing (dystonia), and dysarthria.[1][3] Dysphagia and choking are also common. Cognitive function is generally preserved.[3] Most people with this disorder require wheelchair assistance by the time they are in their sixties.[1] Lifespan is not usually shortened by this disease.[2][3]
Last updated: 10/10/2012

How might spinocerebellar ataxia type 6 (SCA6) be treated?

While there is no specific treatment which can prevent of slow the progression of SCA6, there are therapies available to help manage the symptoms.[2] For instance:[3]

 

  • Episodes of ataxia, vertigo, and sleep disorders can be treated with medication,
  • Home modifications may be made for safety and convenience,
  • Canes and walkers can allow for continued mobility,
  • Speech therapy and communication devices may help with dysarthria, and
  • Weighted eating utensils and dressing hooks can help patients maintain independence. 

Affected individuals should be followed annually or semiannually by a neurologist, with consultations as needed with other specialists.[3] More detailed information related to the treatment of SCA6 can be accessed through the GeneReviews Web site.

Last updated: 10/10/2012

References
  1. Spinocerebellar ataxia type 6. Genetics Home Reference (GHR). 2011; http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6. Accessed 10/10/2012.
  2. Frequently Asked Questions About Spinocerebellar Ataxia Type 6 (SCA6). National Ataxia Foundation. 2012; http://www.ataxia.org/pdf/NAF%20Web%20Content%20Publication%20SCA6.pdf. Accessed 10/10/2012.
  3. Gomez CM. Spinocerebellar Ataxia Type 6. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1140/. Accessed 10/10/2012.