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Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.
Am J Med Genet C Semin Med Genet 2012; 160C(1):69-79AJ

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.

Authors+Show Affiliations

Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, NC 27708, USA. laura.case@duke.eduNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

22252989

Citation

Case, Laura E., et al. "Infantile Pompe Disease On ERT: Update On Clinical Presentation, Musculoskeletal Management, and Exercise Considerations." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 160C, no. 1, 2012, pp. 69-79.
Case LE, Beckemeyer AA, Kishnani PS. Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. Am J Med Genet C Semin Med Genet. 2012;160C(1):69-79.
Case, L. E., Beckemeyer, A. A., & Kishnani, P. S. (2012). Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160C(1), pp. 69-79. doi:10.1002/ajmg.c.31321.
Case LE, Beckemeyer AA, Kishnani PS. Infantile Pompe Disease On ERT: Update On Clinical Presentation, Musculoskeletal Management, and Exercise Considerations. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):69-79. PubMed PMID: 22252989.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. AU - Case,Laura E, AU - Beckemeyer,Alexandra A, AU - Kishnani,Priya S, Y1 - 2012/01/17/ PY - 2012/1/19/entrez PY - 2012/1/19/pubmed PY - 2012/7/25/medline SP - 69 EP - 79 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 160C IS - 1 N2 - 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. SN - 1552-4876 UR - https://www.unboundmedicine.com/medline/citation/22252989/Infantile_Pompe_disease_on_ERT:_update_on_clinical_presentation_musculoskeletal_management_and_exercise_considerations_ L2 - https://doi.org/10.1002/ajmg.c.31321 DB - PRIME DP - Unbound Medicine ER -