Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations

Authors

  • Laura E. Case,

    Corresponding author
    • Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, DUMC Box 104002, Durham, NC 27708.
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    • Laura E. Case, PT, DPT, MS, PCS, C/NDT is Assistant Professor in the Division of Physical Therapy at Duke University, and is a Board Certified Specialist in Pediatric Physical Therapy who has dedicated her career to the treatment across the lifespan of individuals with neurological, neuromuscular, and metabolic conditions including Pompe disease, Duchenne muscular dystrophy, spinal muscular atrophy, and cerebral palsy; to research in these areas; and to teaching. She has been involved in numerous clinical trials for the treatment of these diagnoses.

  • Alexandra A. Beckemeyer,

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    • Alexandra A. Beckemeyer is an undergraduate research assistant for Priya S. Kishnani at Duke University Medical Center.

  • Priya S. Kishnani

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    • Priya S. Kishnani is Chief of Medical Genetics, Professor of Pediatrics, and a clinician scientist at Duke who is dedicated to the care and treatment of individuals with Pompe disease and other metabolic disorders. She has been involved in numerous clinical trials for the treatment of Pompe disease, Down syndrome, and many other conditions. She continues to research new therapies for Pompe disease, Down syndrome, and other glycogen storage diseases.


  • How to cite this article: Case LE, Beckemeyer AA, Kishnani PS. 2012. Infantile Pompe disease on ERT—Update on clinical presentation, musculoskeletal management, and exercise considerations. Am J Med Genet Part C Semin Med Genet 160C:69–79.

Abstract

Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disease are surviving beyond infancy, some achieving independent walking and functional levels never before possible. Individuals with late-onset Pompe disease are experiencing motor and respiratory improvement and/or stabilization with slower progression of impairments. A new phenotype is emerging for those with infantile Pompe disease treated with ERT. This new phenotype appears to be distinct from the late-onset phenotype rather than a shift from infantile to late-onset phenotype that might be expected from a simple diminution of symptoms with ERT. Questions arise regarding the etiology of the distinct distribution of weakness in this new phenotype, with increasing questions regarding exercise and musculoskeletal management. Answers require an increased understanding of the muscle pathology in Pompe disease, how that muscle pathology may be impacted by ERT, and the potential impact of, and need for, other clinical interventions. This article reviews the current state of knowledge regarding the pathology of muscle involvement in Pompe disease and the potential change in muscle pathology with ERT; the newly emerging musculoskeletal and gross motor phenotype of infantile Pompe disease treated with ERT; updated recommendations regarding musculoskeletal management in Pompe disease, particularly in children now surviving longer with residual weakness impacting development and integrity of the musculoskeletal system; and the potential impact and role of exercise in infantile Pompe survivors treated with ERT. © 2012 Wiley Periodicals, Inc.

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