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Hereditary spastic paraplegia 12
rareAutosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
- Identifiers
- MONDO:0011489 OMIM:604805Orphanet:100993
- Causal genes
- RTN2
- Also known as
- autosomal dominant spastic paraplegia type 12 · hereditary spastic paraplegia caused by mutation in RTN2 · hereditary spastic paraplegia type 12 · RTN2 hereditary spastic paraplegia · spastic paraplegia 12
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