Autosomal spastic paraplegia type 30

Orpha code: 101010OMIM code: 610357

Definicja

A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.

Disease data
Klasyfikacja

Disease

Synonimy
SPG30
SPG30
Kod ORPHA
101010
Kod OMIM
610357
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl