GM1 Gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
The condition has traditionally been classified into three major types based on the age at which signs and symptoms first appear.
- Type I – Infantile
- Type II – Late infantile and Juvenile
- Type III – Adult/chronic
Although the three types differ in severity, their features can overlap significantly. Because of this overlap, researchers believe that GM1 Gangliosidosis represents a continuous disease spectrum instead of three distinct types.
All individuals with GM 1 Gangliosidosis have a deficiency, or absence, of the enzyme β-galactosidase which results in the accumulation of molecules that this enzyme is responsible for breaking down.
To date there are no specific treatments for GM 1 Gangliosidosis. Affected individuals receive a range of treatments to address the varying symptoms of the condition.
This condition is inherited in an autosomal recessive pattern, which means that in an affected individual, both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.
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