What is the prevalence of PMM2-CDG?
How many people does PMM2-CDG affect? Does it have the same prevalence in men and women? And in the different countries?
PMM2-CDG is a rare genetic disorder caused by mutations in the PMM2 gene. It belongs to a group of disorders known as congenital disorders of glycosylation (CDG). The prevalence of PMM2-CDG is estimated to be around 1 in 50,000 to 100,000 individuals worldwide. This means that it is considered a rare condition. PMM2-CDG affects various organs and systems in the body, leading to a wide range of symptoms and severity. Early diagnosis and management are crucial for improving the quality of life for individuals with PMM2-CDG.
PMM2-CDG (Phosphomannomutase 2-congenital disorder of glycosylation) is a rare genetic disorder that affects the body's ability to produce certain proteins and sugars. It is estimated to have a prevalence of approximately 1 in 20,000 to 1 in 50,000 individuals worldwide.
Individuals with PMM2-CDG may experience a wide range of symptoms, including developmental delays, intellectual disability, liver dysfunction, muscle weakness, and impaired blood clotting. The severity of the condition can vary significantly from person to person.
Due to its rarity, PMM2-CDG often goes undiagnosed or misdiagnosed, making it challenging to determine the exact prevalence. However, advancements in genetic testing and increased awareness have led to improved identification and understanding of this disorder.
While there is currently no cure for PMM2-CDG, management focuses on addressing individual symptoms and providing supportive care. Early intervention and multidisciplinary approaches involving various medical specialists can help improve the quality of life for individuals with PMM2-CDG.
