spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0020771
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
is_a
SCAN1
exact
Spinocerebellar Ataxia with Axonal Neuropathy
exact
autosomal recessive spinocerebellar ataxia with axonal neuropathy
broad
spinocerebellar ataxia autosomal recessive with axonal neuropathy
related
spinocerebellar ataxia type 1 with axonal neuropathy
exact
spinocerebellar ataxia with axonal neuropathy
related
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
broad
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
exact
SPCP31B10.05