/spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Rare Disease

MONDO:0018996

Also Known As

AOA2SCAN 2SCAN2ataxia with oculomotor apraxia type 2ataxia-ocular apraxia 2ataxia-oculomotor apraxia 2ataxia-oculomotor apraxia type 2spinocerebellar ataxia with axonal neuropathy type 2spinocerebellar ataxia, autosomal recessive 1spinocerebellar ataxia, autosomal recessive type 1SCAR1autosomal recessive spinocerebellar ataxia-1

Definition

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.