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Autosomal recessive spastic paraplegia type 21
Disease definition
Autosomal 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.
ORPHA:101001
Classification level: Disorder- Synonym(s):
- Mast syndrome
- SPG21
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood, Adolescent, Adult
- ICD-10: G11.4
- OMIM: 248900
- UMLS: C1855346
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2018)
- Disability factsheet
- Français (2018, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.