Spastic paraplegia type 7

Orpha code: 99013OMIM code: 607259

Definicja

A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, <i>pes cavus</i>, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia.

Disease data
Klasyfikacja

Disease

Synonimy
SPG7
SPG7
Kod ORPHA
99013
Kod OMIM
607259
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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