delayed diagnosis

LOPD can be misdiagnosed as inflammatory muscle disease: Study

A man with late-onset Pompe disease (LOPD) was initially misdiagnosed with an inflammatory muscle disease called polymyositis, according to a case study highlighting the need to incorporate imaging tests in clinical practice to reduce the delay in diagnosis and treatment. After medication failed to improve his muscle strength, the…

Myozyme Benefits LOPD Patient Misdiagnosed For 3 Decades

A woman was diagnosed with advanced late-onset Pompe disease after three decades of being misdiagnosed, according to a recent case report. After diagnosis, the woman began treatment with Myozyme (alglucosidase alfa), which led to marked improvements that enabled her to live independently. The findings underscore a need for…

Direct Referral to Expert Centers May Lead to Early Pompe Diagnosis, Study Suggests

People with Pompe disease symptoms who are not directly referred to expert centers for a diagnostic work-up tend to take much longer to be properly diagnosed with this rare genetic disorder, a study shows. Researchers say facilitating direct referral might help with early diagnosis of Pompe. The study,…