hereditary spastic paraplegia 7
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.
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0019064
hereditary spastic paraplegia
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MONDO:0100309
hereditary ataxia
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SPG7
exact
SPG7 hereditary spastic paraplegia
exact
hereditary spastic paraplegia 7
exact
hereditary spastic paraplegia caused by mutation in SPG7
exact
hereditary spastic paraplegia paraplegin type
related
hereditary spastic paraplegia type 7
exact
spastic paraplegia 7
related
spastic paraplegia 7, autosomal recessive
related
spastic paraplegia type 7
exact