About PMM2-CDG

Is there a cure/medications for PMM2-CDG?

At this time, there is no cure for PMM2-CDG. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, and medications to help with seizures, muscle spasms, and other symptoms.

What are the risk factors for PMM2-CDG?

The risk factors for PMM2-CDG include:

1. Inheritance: PMM2-CDG is an autosomal recessive disorder, meaning that both parents must carry a mutated copy of the PMM2 gene in order for a child to be affected.

2. Ethnicity: PMM2-CDG is more common in certain ethnic groups, such as those of Ashkenazi Jewish descent.

3. Age: PMM2-CDG is usually diagnosed in infancy or early childhood.

4. Family history: A family history of PMM2-CDG increases the risk of a child being affected.

What are the treatments for PMM2-CDG?

Currently, there is no cure for PMM2-CDG. Treatment focuses on managing the symptoms and complications of the disorder. This may include physical therapy, occupational therapy, speech therapy, dietary modifications, and medications to manage seizures, gastrointestinal issues, and other symptoms. In some cases, surgery may be necessary to address certain complications.

What are the causes of PMM2-CDG?

PMM2-CDG is caused by mutations in the PMM2 gene. These mutations lead to a deficiency in the enzyme phosphomannomutase 2, which is responsible for the proper metabolism of carbohydrates. This deficiency leads to a wide range of symptoms, including developmental delays, seizures, and intellectual disability.

What are the symptoms of PMM2-CDG?

The symptoms of PMM2-CDG vary from person to person, but can include:

-Developmental delays
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Frequent infections
-Cerebellar ataxia
-Gait abnormalities
-Vision and hearing problems
-Gastrointestinal issues
-Heart defects
-Kidney problems
-Skin rashes
-Liver dysfunction
-Skeletal abnormalities

What is PMM2-CDG?

PMM2-CDG (Phosphomannomutase 2-Congenital Disorder of Glycosylation) is a rare genetic disorder caused by a mutation in the PMM2 gene. It is characterized by a wide range of symptoms, including developmental delays, seizures, movement disorders, and intellectual disability. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.