Autosomal spastic paraplegia type 58

Orpha code: 397946OMIM code: 611302

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal spastic ataxia type 2
SPAX2
SPG58
Autosomalna recesywna ataksja spastyczna typu 2
SPAX2
SPG58
Kod ORPHA
397946
Kod OMIM
611302
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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