/spastic ataxia 2

spastic ataxia 2

Rare Disease

MONDO:0012651

Also Known As

KIF1C spastic ataxiaSPAX2SPG58autosomal recessive spastic ataxia type 2spastic ataxia 2spastic ataxia caused by mutation in KIF1Cspastic ataxia type 2autosomal recessive spastic paraplegia type 58spastic ataxia 2, autosomal recessive

Definition

Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.