/ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Rare Disease

MONDO:0008842

Also Known As

AOA1APTX oculomotor apraxia or related oculomotor diseaseataxia with oculomotor apraxia type 1ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaoculomotor apraxia or related oculomotor disease caused by mutation in APTXEAOHEOCA-HAataxia, adult-onset, with oculomotor apraxiaataxia-oculomotor apraxia 1ataxia-oculomotor apraxia syndromeataxia-oculomotor apraxia type 1ataxia-telangiectasia-like syndromecerebellar ataxia, early-onset, with hypoalbuminemiaearly-onset ataxia with oculomotor apraxia and hypoalbuminemiaearly-onset cerebellar ataxia with hypoalbuminemia

Definition

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.