/spastic ataxia 5

spastic ataxia 5

Rare Disease

MONDO:0013776

Also Known As

AFG3L2 autosomal recessive spastic ataxiaAFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndromeAFG3L2-related spastic ataxia-neuropathy syndromeSPAX5autosomal recessive spastic ataxia caused by mutation in AFG3L2autosomal recessive spastic ataxia type 5spastic ataxia type 5early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromespastic ataxia 5, autosomal recessive

Definition

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.