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Hereditary spastic paraplegia 7
rareAutosomal 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.
- Identifiers
- MONDO:0011803 OMIM:607259Orphanet:99013
- Causal genes
- SPG7
- Part of
- Hereditary ataxiaHereditary spastic paraplegiaMitochondrial oxidative phosphorylation disorder
- 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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