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Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients

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 affecti...

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Autores principales: Haaker, Gerrit, Forst, Jürgen, Forst, Raimund, Fujak, Albert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910124/
https://www.ncbi.nlm.nih.gov/pubmed/24523658
http://dx.doi.org/10.1155/2014/963861
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author Haaker, Gerrit
Forst, Jürgen
Forst, Raimund
Fujak, Albert
author_facet Haaker, Gerrit
Forst, Jürgen
Forst, Raimund
Fujak, Albert
author_sort Haaker, Gerrit
collection PubMed
description 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.
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spelling pubmed-39101242014-02-12 Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients Haaker, Gerrit Forst, Jürgen Forst, Raimund Fujak, Albert ScientificWorldJournal Clinical Study 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. Hindawi Publishing Corporation 2014-01-02 /pmc/articles/PMC3910124/ /pubmed/24523658 http://dx.doi.org/10.1155/2014/963861 Text en Copyright © 2014 Gerrit Haaker et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Study
Haaker, Gerrit
Forst, Jürgen
Forst, Raimund
Fujak, Albert
Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients
title Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients
title_full Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients
title_fullStr Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients
title_full_unstemmed Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients
title_short Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients
title_sort orthopedic management of patients with pompe disease: a retrospective case series of 8 patients
topic Clinical Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910124/
https://www.ncbi.nlm.nih.gov/pubmed/24523658
http://dx.doi.org/10.1155/2014/963861
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