hereditary spastic paraplegia 31
A 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.
MONDO:0019064
hereditary spastic paraplegia
is_a
REEP1 hereditary spastic paraplegia
exact
SPG31
exact
autosomal dominant spastic paraplegia type 31
exact
hereditary spastic paraplegia caused by mutation in REEP1
exact
hereditary spastic paraplegia type 31
exact
spastic paraplegia 31
related
spastic paraplegia 31, autosomal dominant
related
SPBC30D10.09c