20
Patient20: Male, 22 years report, 12 year onset
CasePresentingHPOs: HP:0001324, HP:0002098 (Muscle weakness, Respiratory distress)
HPOsFreeText: GAA activity 11.6% from leukocyte, Respiratory Assistance needed
CaseNotHPOs: HP:0001640, HP:0002240 (Cardiomegaly, Hepatomegaly)
NotHPOsFreeText: Wheelchair not needed
CaseAddInfo: LOPD
44
Case44: Male, 10yo at onset, 15yo at enrollment
CasePresentingHPOs: HP:0007340, HP:0003701, HP:0003327, HP:0003236, HP:0002111, HP:0100748, HP:0003458
HPOsFreeText: symmetric muscle weakness of extremities, CK = 3313 IU/L, FVC = 23%, Unspecific myopathic change, DBS GAA activity = 0.1, mixed leukocyte GAA activity = 1.80
CaseNotHPOs: HP:0001627, HP:0002086
NotHPOsFreeText:
CaseAddInfo: 5 years between onset and diagnosis
CasePreviousTesting: clinical history, laboratory data, DBS and ML assays to measure GAA activity, electromyography, muscle pathology analysis
CaseGenotypingMethod: full sequencing of GAA gene
VariantAllele1: NM_000152.4(GAA):c.546G>T (p.Thr182=)
ClinVar: 370637, https://www.ncbi.nlm.nih.gov/clinvar/variation/370637/
gnomAD: n/a
VariantAllele2: NM_000152.4(GAA):c.1316T>A (p.Met439Lys)
ClinVar: 371305, https://www.ncbi.nlm.nih.gov/clinvar/variation/371305/
gnomAD: 3.988e-05, http://exac.broadinstitute.org/variant/17-78082617-T-A