Autosomal recessive spastic paraplegia type 20

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Autosomal recessive spastic paraplegia type 20

Synonyms: Childhood-onset spastic paraparesis-distal muscle wasting syndrome | SPG20 | Troyer syndrome

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy psuedobulbar palsy motor and cognitive delays mild cerebellar signs (dysarthria dysdiadochokinesia mild intention tremor) short stature and subtle skeletal abnormalities (pes cavus mild talipes equinovarus kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1) which encodes the protein spartin.

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 20?

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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.