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Acta Myologica (1)
BMC Musculoskeletal Disorders (1)
The Scientific World Journal (1)
Forst, Jürgen (2)
Forst, Raimund (2)
Fujak, Albert (2)
FORST, JÜRGEN (1)
FORST, RAIMUND (1)
Haaker, Gerrit (1)
Raab, Wolfgang (1)
Richter, Silvia (1)
Schuh, Alexander (1)
Year of Publication
Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients
The Scientific World Journal
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.
Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients
BMC Musculoskeletal Disorders
Progressive scoliosis, pelvic obliquity and increasing reduction of pulmonary function are among the most significant problems for patients with SMA type II and SMA type III once they have lost the ability to walk. The aim of this study was to examine and document the development and natural course of scoliosis in patients with spinal muscular atrophy type II and IIIa.
For the purposes of a descriptive clinical study, we observed 126 patients, 99 with SMA II and 27 with SMA IIIa and the data of scoliosis, pelvic obliquity and relative age-dependent inspiratory vital capacity were evaluated.
Scoliosis and pelvic obliquity were regularly observed already in children under 4 years old in the group with SMA II. The severity and progression of both conditions were much more pronounced in the SMA II group than in the IIIa group. There was already a distinct reduction in relative vital capacity in the group of 4- to 6-year-olds with SMA II.
The differences between the two SMA types II and IIIa described in this study should be taken into consideration when developing new treatments and in management of scoliosis in the childhood years of these patients.
Spinal muscular atrophy; Scoliosis; Pelvic obliquity; Pulmonary function; Natural course
Surgical treatment of Duchenne muscular dystrophy patients in Germany: the present situation
In 1988, we familiarised ourselves at Poitiers with the concept of operative treatment of the lower limbs and the spine in Duchenne muscular dystrophy (DMD) patients which Yves Rideau and his collaborators (1, 2) had developed there in the early 1980s. Thereupon, we immediately established the techniques at our home universities, first at the Technische Universität Aachen and, from 1999 on, at the Universitätsklinikum Erlangen, Germany. Since then, we have applied the technique to more than 500 DMD patients in total by performing more than 800 operations on the lower limbs and/or spine. In support of findings reported by Professor Rideau in this issue (3) we observed that, where patients are still ambulatory at the time of operation, the operation delays the point at which patients become wheelchair-bound by about two years. Likewise, patients receiving this treatment were/are also able to perform the Gowers' manoeuvre for around two years longer (4-6).
Duchenne muscular dystrophy; prophylactic surgery; prevention of scoliosis
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