/mast syndrome

mast syndrome

Rare Disease

MONDO:0009568

Also Known As

Mast syndromeSPG21autosomal recessive spastic paraplegia 21autosomal recessive spastic paraplegia type 21hereditary spastic paraplegia 21mast syndromespastic paraplegia 21, autosomal recessive

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.