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Items: 5

1.

ACID ALPHA-GLUCOSIDASE, ALLELE 4

MedGen UID:
865419
Concept ID:
C4016982
Finding
2.

GLYCOGEN STORAGE DISEASE II, ADULT FORM

MedGen UID:
865418
Concept ID:
C4016981
Finding
3.

GLYCOGEN STORAGE DISEASE II, INFANTILE FORM

MedGen UID:
865417
Concept ID:
C4016980
Finding
4.

ACID ALPHA-GLUCOSIDASE, ALLELE 2

MedGen UID:
865416
Concept ID:
C4016979
Finding
5.

Glycogen storage disease, type II

Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon. [from GTR]

MedGen UID:
5340
Concept ID:
C0017921
Disease or Syndrome
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