GM2 gangliosidoses

GM2 Gangliosidoses

GM2 gangliosidoses (pronunciation: /ɡiː.ɛm.tuː ɡæŋˌgliː.əʊˈsaɪˌdoʊsɪz/) is a group of rare and fatal genetic disorders that progressively destroy nerve cells (neurons) in the brain and spinal cord.

The term "GM2 gangliosidoses" is derived from the name of a specific molecule, GM2 ganglioside, that accumulates abnormally in the cells and tissues of individuals with these disorders due to a deficiency of a specific enzyme.

Types

The three most common types of GM2 gangliosidoses are:

• Tay-Sachs disease
• Sandhoff disease
• AB variant GM2 gangliosidosis

Symptoms

Symptoms of GM2 gangliosidoses typically include muscle weakness, loss of motor skills, decreased social engagement, seizures, and progressive loss of mental and physical abilities.

Causes

GM2 gangliosidoses are caused by mutations in the HEXA, HEXB, or GM2A genes. These mutations lead to a deficiency of the enzyme beta-hexosaminidase, which is necessary for the breakdown of GM2 gangliosides in the body.

Diagnosis

Diagnosis of GM2 gangliosidoses is typically made through a combination of clinical examination, genetic testing, and enzyme analysis.

Treatment

There is currently no cure for GM2 gangliosidoses. Treatment is supportive and aimed at managing symptoms and improving quality of life.

See also

• Lysosomal storage disease
• Neurodegenerative disease
• Genetic disorder

References

External links

• Medical encyclopedia article on GM2 gangliosidoses
• Wikipedia's article - GM2 gangliosidoses

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