Hereditary spastic paraplegia 62
Hereditary spastic paraplegia 62
Definition
Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
Also known as autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1, autosomal recessive spastic paraplegia type 62, ERLIN1 autosomal recessive pure spastic paraplegia, hereditary spastic paraplegia type 62, spastic paraplegia 62, autosomal recessive, SPG62 — per MONDO