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Autosomal dominant spastic paraplegia type 9A
Disease 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.
ORPHA:447753
Classification level: Disorder- Synonym(s):
- AD-SPG9A
- Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
- Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Adolescent, Adult
- ICD-10: G11.4
- OMIM: 601162
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2021)
- Disability factsheet
- Français (2018, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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