PMM2-CDG

PMM2-CDG (also known as Congenital disorder of glycosylation type Ia) is a rare genetic disorder that affects the nervous system and other parts of the body. It is caused by mutations in the PMM2 gene.

Symptoms

The symptoms of PMM2-CDG can vary widely among affected individuals. They can include developmental delay, intellectual disability, seizures, abnormal eye movements, and problems with balance and coordination (ataxia). Some affected individuals may also have hypotonia (low muscle tone), an unusually small head size (microcephaly), or other physical abnormalities.

Causes

PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme that is involved in a process called glycosylation, which is important for the proper functioning of many different proteins and lipids in the body.

Diagnosis

The diagnosis of PMM2-CDG is usually based on the presence of characteristic clinical features and abnormal laboratory test results. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for PMM2-CDG. Treatment is supportive and based on the symptoms in each individual. It may include physical therapy, occupational therapy, speech therapy, and other interventions to help manage symptoms and improve quality of life.

Prognosis

The prognosis for individuals with PMM2-CDG varies. Some individuals have a mild form of the disorder and live into adulthood, while others have a more severe form and may not survive past infancy or early childhood.

See also

• Congenital disorder of glycosylation
• PMM2
• Glycosylation

External links

• PMM2-CDG at Genetics Home Reference
• PMM2-CDG at National Organization for Rare Disorders

PMM2-CDG Resources
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