Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 6 (pronounced: spi-no-cer-e-bel-lar a-tax-ia type six), often abbreviated as SCA6, is a rare, late-onset, autosomal dominant disorder, which is characterized by cerebellar ataxia and dysarthria.
Etymology
The term "Spinocerebellar" is derived from the Latin words 'spina' meaning 'spine', 'cerebellum' meaning 'little brain', and 'ataxia' meaning 'lack of order'. The term "type 6" refers to the specific subtype of the disorder.
Symptoms
The primary symptoms of SCA6 include dysarthria, nystagmus, and cerebellar ataxia. Other symptoms may include vertigo, migraine, and diplopia.
Causes
SCA6 is caused by a mutation in the CACNA1A gene, which provides instructions for making a protein that is involved in the transport of calcium ions into cells.
Diagnosis
Diagnosis of SCA6 is based on clinical examination, family history, and genetic testing.
Treatment
There is currently no cure for SCA6. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy.
Prognosis
The prognosis for individuals with SCA6 varies. Some individuals may remain ambulatory for several decades, while others may become wheelchair-bound.
See also
External links
- Medical encyclopedia article on Spinocerebellar ataxia type 6
- Wikipedia's article - Spinocerebellar ataxia type 6
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