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Mast syndrome
rareAutosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
- Identifiers
- MONDO:0009568 OMIM:248900Orphanet:101001
- Causal genes
- SPG21
- Part of
- Hereditary spastic paraplegia
- Also known as
- autosomal recessive spastic paraplegia type 21 · SPG21
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