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.

Also known as: REEP1 hereditary spastic paraplegia, SPG31, autosomal dominant spastic paraplegia type 31, hereditary spastic paraplegia caused by mutation in REEP1, hereditary spastic paraplegia type 31, spastic paraplegia 31, spastic paraplegia 31, autosomal dominant

2 clinical trials for this condition and its sub-types, 0 tagged with Hereditary spastic paraplegia 31 itself.