GM1 gangliosidoses
GM1 gangliosidoses (pronunciation: /ˌdʒiːˌɛmˈwʌn ˌɡæŋgliːəʊˈsaɪˌdəʊsiːz/) is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition is named after the substance GM1 ganglioside, which accumulates in the tissues and organs of affected individuals due to a deficiency of a particular enzyme.
Etymology
The term "GM1 gangliosidoses" is derived from the name of the substance "GM1 ganglioside" that builds up in the body's tissues and organs in this condition. The term "ganglioside" itself comes from the Greek words "ganglion" (meaning a mass of nerve tissue) and "sides" (meaning an element or group).
Types
There are three types of GM1 gangliosidoses, distinguished by the age at which symptoms first appear:
Symptoms
The symptoms of GM1 gangliosidoses vary widely among affected individuals and by the type of the disorder. Common symptoms include muscle weakness, dementia, and difficulty swallowing.
Causes
GM1 gangliosidoses is caused by mutations in the GLB1 gene. This gene provides instructions for making an enzyme called beta-galactosidase, which breaks down certain molecules in the body. Mutations in the GLB1 gene reduce or eliminate the activity of beta-galactosidase, causing molecules to accumulate in the body's cells and tissues.
Treatment
There is currently no cure for GM1 gangliosidoses. Treatment is supportive and based on the signs and symptoms present in each individual. This may include physical therapy, medication to control symptoms, and nutritional support.
See also
External links
- Medical encyclopedia article on GM1 gangliosidoses
- Wikipedia's article - GM1 gangliosidoses
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