Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study

Marie Wencel1, Aziz Shaibani1, Namita A Goyal1

  • 1Department of Neurology (M.W., N.A.G., T.M.), University of California, Irvine; Nerve and Muscle Center of Texas (A.S., Z.R.), Houston, TX; Department of Neurology (M.M.D., M.H.), University of Kansas Medical Center; Department of Neurology and Neurotherapeutics (J.T., S.H.), University of Texas Southwestern, Dallas; Department of Neurology (N.E.J.), Virginia Commonwealth University, Richmond (affiliated with University of Utah, Salt Lake City at the Time of Study); Department of Neurology (L.G.), Indiana University School of Medicine, Indianapolis (affiliated with University of Iowa at the Time of Study); Department of Neurology (S.B.), Pennsylvania State University, Hershey; Department of Neurology (M.P.W.), UC Denver, CO (affiliated with Department of Neurology, Pennsylvania State University, Hershey at the Time of the Study); Department of Neurology and the Montreal Neurological Institute (A.L.G.), McGill University, Montreal, Quebec, Canada; Department of Neurology (M.L.F.), Ohio State University, Columbus; Department of Neurology (N.G.), Stanford University, Palo Alto, CA; Department of Neurology and Pathology (A.P., J.F.), Washington University, St. Louis, Missouri; Department of Neurology (A.P., C.K.), University of Pennsylvania, Philadelphia (affiliated with Oregon Health & Science University, Portland at the Time of Study); Department of Neurology (J.W.R.), University of California, San Francisco; and Departments of Neurology (T.M.), Orthopaedic Surgery and Pathology and Laboratory Medicine, University of California, Irvine.

Neurology. Genetics
|October 27, 2022
PubMed
Summary

The prevalence of late-onset Pompe disease (LOPD) is 1% in patients with proximal muscle weakness or neck weakness. This study also identified pseudodeficiency alleles at an equal rate in neuromuscular practices.