Autosomal dominant spastic paraplegia type 9A

Orpha code: 447753OMIM code: 601162

Definition

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
Classification

Disease

Synonyms
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
ORPHA code
447753
OMIM code
601162
ICD10 code
G11.4
ICD11 code
-

No additional description.

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