Autosomal recessive spastic paraplegia type 76

Orpha code: 488594OMIM code: 616907

Definicja

Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.

Disease data
Klasyfikacja

Disease

Synonimy
SPG76
SPG76
Kod ORPHA
488594
Kod OMIM
616907
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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