/hereditary spastic paraplegia 31

hereditary spastic paraplegia 31

Rare Disease

MONDO:0012453

Also Known As

REEP1 hereditary spastic paraplegiaSPG31autosomal dominant spastic paraplegia 31autosomal dominant spastic paraplegia type 31hereditary spastic paraplegia caused by mutation in REEP1hereditary spastic paraplegia type 31spastic paraplegia 31spastic paraplegia 31, autosomal dominant

Definition

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.