Case18: Female, Unknown years onset, Unknown years diagnosis, 25 years report

CasePresentingHPOs: HP:0003325, HP:0003327, HP:0003236 (Limb-girdle muscle weakness, Axial muscle weakness, Increased serum CK)

CaseAddInfo: Late-Onset Pompe Disease

Case#: 4, age 24, age 18 (report)

DiseaseAssertion: Pompe Disease

FamilyInfo: Family 4, no further information

CasePresenting HPOs:HP:0012378, HP:0003546, HP:0001324 (fatigue, exercise intolerance, muscle weakness)

CaseHPOFreeText: vacuolar myopathy biopsy PAS +

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: single gene sequencing/analysis, 40.54 NaG/AaGIA, 90.54% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range

Variants:

Variant 1:NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)

ClinVar: 189009

Variant 2: not reported

ParentalGenotypes: N/A

PreviouslyPublished: N/A

Case#: Patient 1, female, 2.5 months of age at diagnosis, Hispanic

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0001638, HP:0032988, HP:0001252, HP:0001270, HP:0002015, HP:0012378

(Cardiomyopathy, Persistent head lag, Muscular hypotonia, Motor delay, Dysphagia, Fatigue)

CaseHPOFreeText: NG tube feeding was left after Enzyme Replacement Therapy (ERT).

Cardiac status at base line was 160 LVMI g/m^2, after ERT IT WAS 81 LVMI g/m^2

Patient needed oxygen at baseline, no respiratory support at ERT.

one episode of Infusion Associated Reactions (IARs) to ERT.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting:

Variant 1: NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)

ClinVar: 189009

CAID: CA274250

gnomAD: Highest population MAF= 0.00004888 (European non-Finnish)

ParentalGenotype:N/A

PreviouslyPublished:N/A