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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.
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.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Late-onset Pompe disease (LOPD) is a rare genetic disorder.
- Early diagnosis and treatment are crucial for managing LOPD.
- Prevalence data in undiagnosed populations is limited.
Purpose of the Study:
- To determine the prevalence of LOPD in patients presenting with specific neuromuscular symptoms.
- To assess the frequency of pseudodeficiency alleles and carrier status for GAA mutations.
Main Methods:
- A prospective study was conducted across 13 academic neuromuscular centers in the US and Canada.
- Patients with proximal muscle weakness, hyperCKemia, or neck muscle weakness were recruited.
- Acid alpha-glucosidase (GAA) enzyme assay and genetic mutation analysis were performed.
Main Results:
- Late-onset Pompe disease (LOPD) was confirmed in 1% of participants.
- Pseudodeficiency of GAA was found in 1% of participants.
- 1.9% of participants were identified as heterozygous carriers for pathogenic GAA mutations.
Conclusions:
- The prevalence of LOPD in symptomatic patients seeking care at specialized neuromuscular centers is approximately 1%.
- Pseudodeficiency alleles occur at a similar frequency.
- Genetic testing for GAA mutations is important for diagnosing LOPD in at-risk individuals.
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