30
Case30: Female, 10 yr onset, 11 yr diagnosis, 16.4 yr report
CasePresentingHPOs: HP:0002650 (Scoliosis)
HPOsFreeText: Wheelchair used at 16 yr, Respiratory support used at 12 yr, FVC z-score sitting -8.07 (13% pred), 72% MRC Scale, 1560 CK U/l, 3.4 GAA activity (nmol/h/mg)^h from cultured fibroblasts
3
Case#: 3, age 48, age 41 (report)
DiseaseAssertion: Pompe Disease
FamilyInfo: Family 3, no further information
CasePresenting HPOs:HP:0012378, HP:0003546, HP:0001324 (fatigue, exercise intolerance, muscle weakness)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: single gene sequencing/analysis, 63.85 NaG/AaGIA, 91% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range
Variants:
Variant 1:NM_000152.5(GAA):c.-32-3C>A
ClinVar: 371622
Variant 2:NM_000152.5(GAA):c.-32-3C>A
ClinVar: 371622
ParentalGenotypes: N/A
PreviouslyPublished: N/A