IllnessMorbus Pompe

NGS +

Pompe disease is a hereditary glycogenosis caused by a lysosomal alpha-glucosidase defect in which glycogen accumulates primarily in muscle. The three clinical courses include the classic infantile form, the non-classic infantile form and the late form. The classic form of Pompe disease begins several months after birth. Infants develop myopathy, hypotonia, hepatomegaly and cardiac abnormalities, failure to thrive and respiratory problems. The non-classical form of Pompe disease usually appears about at 1 year of age with delayed motor skills and progressive muscle weakness. Cardiomegaly, severe respiratory problems limit the lifespan to early childhood. The late-onset type begins in childhood, adolescence or adulthood with progressive muscle weakness, especially in the legs and trunk, including the respiratory muscles, which can lead to respiratory failure. Inheritance is autosomal recessive. DNA sequence analysis detects 83-93% of subjects with pathogenic variants as well as 5-13% of subjects by deletions/duplications (mainly exon 18 at 5-7%). Nevertheless, inconspicuous genetic findings do not provide absolutely certain exclusion of the suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1261/

• Alias: Alpha-1,4-glucosidase acid deficiency (GAA)
• Alias: Alpha-1,4-glucosidase deficiency (GAA)
• Alias: GAA deficiency (GAA)
• Alias: Glycogen storage disease type 2; GSD type 2 (GAA)
• Alias: Glycogen storage disease type II; GSD type II (GAA)
• Alias: Glycogenosis type 2, Glycogenosis type II (GAA)
• Alias: Glycogenosis, generalised, cardiac form (GAA)
• Alias: Pompe disease (GAA)