Autosomal dominant spastic paraplegia type 8

Orpha code: 100989OMIM code: 603563

Definicja

A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.

Disease data
Klasyfikacja

Disease

Synonimy
SPG8
SPG8
Kod ORPHA
100989
Kod OMIM
603563
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