Autosomal recessive neuromyotonia and axonal neuropathy

An autosomal recessive condition caused by mutation(s) in the SETX gene, encoding probable helicase senataxin. It is characterized by juvenile onset progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased concentrations of serum alpha-fetoprotein. Oculomotor apraxia is common, but is not always present.

Disease Alternative Name

ataxia with oculomotor apraxia type 2
spinocerebellar ataxia
autosomal recessive
with axonal neuropathy 2
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