Autosomal recessive spastic paraplegia type 21

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Autosomal recessive spastic paraplegia type 21

Synonyms: Mast syndrome | SPG21

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Autosomal recessive spastic paraplegia type 21?

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Advocacy Organizations

Eleanor Kaplan Foundation Inc.

The Eleanor Kaplan Foundation or TeamLeni, is a 501c3 to raise awareness, fund and establish research programs and develop curative therapeutics for SPG49 and all TECPR2 related disorders.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.