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

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 achiev...

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Bibliographic Details
Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2012-02, Vol.160C (1), p.69-79
Main Authors: Case, Laura E., Beckemeyer, Alexandra A., Kishnani, Priya S.
Format: Article
Language:English
Subjects:
Age of Onset
alpha-Glucosidases - deficiency
alpha-Glucosidases - metabolism
Child
Child, Preschool
emerging phenotype
Enzyme Replacement Therapy - adverse effects
Exercise
Glycogen Storage Disease Type II - metabolism
Glycogen Storage Disease Type II - physiopathology
Glycogen Storage Disease Type II - therapy
Humans
Motor Activity - physiology
Muscle, Skeletal - pathology
musculoskeletal management
physical therapy and exercise
Pompe disease on ERT
residual weakness
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Summary: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.
ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.31321