Autosomal dominant spastic paraplegia type 9A

Orpha code: 447753OMIM code: 601162

Definicja

A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.

Disease data
Klasyfikacja

Disease

Synonimy
AD-SPG9A
Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
AD-SPG9A
Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
Kod ORPHA
447753
Kod OMIM
601162
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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