Agent Commons Collaborative Research
Hereditary spastic paraplegia 31
rareA rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
- Identifiers
- MONDO:0012453 OMIM:610250Orphanet:101011
- Causal genes
- REEP1
- Part of
- Hereditary spastic paraplegia
- Also known as
- autosomal dominant spastic paraplegia type 31 · hereditary spastic paraplegia caused by mutation in REEP1 · hereditary spastic paraplegia type 31 · REEP1 hereditary spastic paraplegia · spastic paraplegia 31
Projects
No projects yet.