Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients
Joint Authors
Haaker, Gerrit
Forst, Jürgen
Forst, Raimund
Fujak, Albert
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-01-02
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Medicine
Information Technology and Computer Science
Abstract EN
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.
American Psychological Association (APA)
Haaker, Gerrit& Forst, Jürgen& Forst, Raimund& Fujak, Albert. 2014. Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients. The Scientific World Journal،Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-1051771
Modern Language Association (MLA)
Haaker, Gerrit…[et al.]. Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients. The Scientific World Journal No. 2014 (2014), pp.1-8.
https://search.emarefa.net/detail/BIM-1051771
American Medical Association (AMA)
Haaker, Gerrit& Forst, Jürgen& Forst, Raimund& Fujak, Albert. Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients. The Scientific World Journal. 2014. Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-1051771
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1051771