Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)

Frequency of Pompe Disease in Patients Followed at CERCA for Myalgia With or Without Hyper Ckemia

Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase. This enzyme deficiency leads to glycogen overload in all cells but with a more marked expression in muscle cells. There is a great variability in the clinical manifestations and in the age of onset of symptoms depending on whether the enzyme deficiency is partial or total. The prevalence is estimated at 1 in 40,000. There is a specific treatment based on enzyme replacement therapy

Patients include: clinical examination, enzyme activity assay, muscle testing, cardiological and respiratory workup. Lowered enzyme activity suggests a pathogenic genetic variant to be identified. The secondary objective is to propose genetic counselling and a family investigation in order to identify relatives who are also affected.

Inclusion Criteria:

• • both sexes

  • with permanent myalgia, spontaneous or on effort,
  • with or without muscle deficit,
  • with or without HyperCkemia
  • without known etiologies
  • Age from 6 to 80 years
  • consulting for the first time or followed at CERCA
  • giving their free and informed consent to participate after information on the research
  • Affiliated to the social security system

Exclusion Criteria:

• Person placed under guardianship and/or curatorship
• Myalgias related to a known etiology