/spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

Rare Disease

MONDO:0011801

Also Known As

autosomal recessive spinocerebellar ataxia with axonal neuropathyspinocerebellar ataxia, autosomal recessive, with axonal neuropathySCAN1Spinocerebellar Ataxia with Axonal Neuropathyspinocerebellar ataxia type 1 with axonal neuropathyspinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1spinocerebellar ataxia autosomal recessive with axonal neuropathyspinocerebellar ataxia with axonal neuropathyspinocerebellar ataxia with axonal neuropathy type 1

Definition

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.