Autosomal spastic paraplegia type 58

Orpha code: 397946OMIM code: 611302

Definition

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
Classification

Disease

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

No additional description.

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