Autosomal recessive spastic paraplegia type 26

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Autosomal recessive spastic paraplegia type 26

Synonyms: GM2 synthase deficiency | SPG26

Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay cerebellar ataxia dysarthria and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus scoliosis) dyskinesia dystonia cataracts cerebellar signs (i.e. saccadic dysfunction nystagmus dysmetria) bladder disturbances and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3) encoding Beta-1 4 N-acetylgalactosaminyltransferase 1.

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 http://www.orphadata.org. Data version April 2024

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Autosomal recessive spastic paraplegia type 26?

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Advocacy Organizations

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.

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