9
Case9: Male, 40 years onset, 45 years diagnosis, 74 years report, France
CasePresentingHPOs: HP:0002540, HP:0002878, HP:0004887 (Inability to walk, Respiratory failure, Respiratory failure requiring assisted ventilation)
HPOsFreeText: Lost ambulation at 50 years, Started invasive ventilation at 67 years, Started ERT given every other week at a dose of 20 mg/kg at 70 years for 43 months, Peak Anti-rhGAA antibodies at 1:409,600, Time off ventilation stayed constant at 0 min, Total Motor Function Measure from 29 to 26, 6MWT stayed constant at 0 meters
CaseNotHPOs: HP:0030148 (Heart murmur)
NotHPOsFreeText: No adverse reaction to ERT was recorded
CaseAddInfo: Late Onset Pompe Disease