Condition
Gangliosidosis, GM1
Neurology
Overview
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Gangliosidosis, GM1
- Topic type
- Condition
- Category
- Neurology
- MeSH classification
- C10.228.140.163.100.435.825.300.400|C16.320.565.189.435.825.300.400|C16.320.565.398.641.803.350.360|C16.320.565.595.554.825.300.400|C18.452.132.100.435.825.300.400|C18.452.584.563.641.803.350.360|C18.452.648.189.435.825.300.400|C18.452.648.398.641.803.350.360|C18.452.648.595.554.825.300.400
Preparing for an appointment about Gangliosidosis, GM1
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- Write down your symptoms and when they started.
- Bring details of any medicines, supplements or previous treatments.
- Ask what tests or assessments may be needed.
- Ask what treatment or management options may be suitable.
- Ask when you should seek urgent medical help or follow-up care.
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.