/hereditary spastic paraplegia 62

hereditary spastic paraplegia 62

Rare Disease

MONDO:0014302

Also Known As

ERLIN1 autosomal recessive pure spastic paraplegiaSPG62autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1autosomal recessive spastic paraplegia 62autosomal recessive spastic paraplegia type 62hereditary spastic paraplegia type 62spastic paraplegia 62, autosomal recessive

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.