Autosomalna recesywna paraplegia spastyczna typu 21

Kod Orpha: 101001Kod OMIM: 248900

Definicja

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.

Dane
Klasyfikacja

Choroba

Synonimy
Mast syndrome
SPG21
Zespół Mast
SPG21
Kod ORPHA
101001
Kod OMIM
248900
Kod ICD10
G11.4
Kod ICD11
8B44.01

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