autosomal recessive spinocerebellar ataxia 2

An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous m

An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34.

Signs and symptoms

• Gaze-evoked nystagmus
• Dysmetria
• Gait ataxia
• Delayed ability to walk
• Dysarthria
• Intellectual disability
• Delayed speech and language development
• Hyperreflexia
• Hypotonia
• Ataxia

Also known as: SCAR2