Case#: LOPD patient #1, Male, 69, ethnicity unknown.

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0002094, HP:0006554, HP:0012378, HP:0001324 (Dyspnea, Acute respiratory failure, Fatigue, Lower Girdle Muscle Weakness and Upper Girdle Muscle Weakness)

CaseHPOFreeText: Dyspnea was present during exercise, not at rest. Lower Girdle Muscle Weakness and Upper Girdle Muscle Weakness share the same HPO.

CaseNotHPOs:

CaseNotHPOFreeText: Patient has normal creatine phosphokinase levels, No Dyspnea at rest, No Ortopnea, No Airways infections, no myalgia

CasePreviousTesting: GAA gene sequencing to asses genotype.

GAA activity was reduced (0.36 microMol/L/h) in reference to standard (10.1 ± 6.6 microMol/L/h) This was measured by dried blood spot .

GAA muscle activity was 3.6 pmol/min/mg, no reference range was provided

Variant: Variant 1: NM_000152.5:c.-32-13T>G

ClinVar: 4027

CAID: CA116606

gnomAD: MAF= 0.005541 (Ashkenazi Jewish)

Variant 2: NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)

ClinVar:371277

CAID:CA16041893

gnomAD: N/A

ParentalGenotype: N/A

PreviouslyPublished: N/A