Orthopedic management of patients with pompe disease: a retrospective case series of 8 patients

Journal article


Publication Details

Author(s): Haaker G, Forst J, Forst R, Fujak A
Journal: Thescientificworldjournal
Publication year: 2014
Volume: 2014
Pages range: 963861
ISSN: 1537-744X


Abstract


Introduction. Pompe disease (PD), a lysosomal storage disease as well as a neuromuscular disorder, is a rare disease marked by progressive muscle weakness. Enzyme replacement therapy (ERT) in recent years allowed longer survival but brought new problems to the treatment of PD with increasing affection of the musculoskeletal system, particularly with a significantly higher prevalence of scoliosis. The present paper deals with the orthopedic problems in patients with PD and is the first to describe surgical treatment of scoliosis in PD patients. Patients and Methods. The orthopedic problems and treatment of eight patients with PD from orthopedic consultation for neuromuscular disorders are retrospectively presented. We analyzed the problems of scoliosis, hip dysplasia, feet deformities, and contractures and presented the orthopedic treatment options. Results. Six of our eight PD patients had scoliosis and two young patients were treated by operative spine stabilization with benefits for posture and sitting ability. Hip joint surgery, operative contracture release, and feet deformity correction were performed with benefits for independent activity. Conclusion. Orthopedic management gains importance due to extended survival and musculoskeletal involvement under ERT. Surgical treatment is indicated in distinct cases. Further investigation is required to evidence the effect of surgical spine stabilization in PD.



FAU Authors / FAU Editors

Forst, Raimund Prof. Dr. med.
Lehrstuhl für Orthopädie mit Orthopädischer Chirurgie
Forst, Jürgen Prof. Dr.
Medizinische Fakultät


How to cite

APA:
Haaker, G., Forst, J., Forst, R., & Fujak, A. (2014). Orthopedic management of patients with pompe disease: a retrospective case series of 8 patients. Thescientificworldjournal, 2014, 963861. https://dx.doi.org/10.1155/2014/963861

MLA:
Haaker, Gerrit, et al. "Orthopedic management of patients with pompe disease: a retrospective case series of 8 patients." Thescientificworldjournal 2014 (2014): 963861.

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Last updated on 2019-21-07 at 08:07

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