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Hereditary spastic paraplegia 7

rare

Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.

Causal genes
SPG7
Also known as
hereditary spastic paraplegia caused by mutation in SPG7 · hereditary spastic paraplegia paraplegin type · hereditary spastic paraplegia type 7 · spastic paraplegia 7 · spastic paraplegia 7, autosomal recessive

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