Zusammenfassung
Hintergrund
Die Betreuung von Patienten mit Duchenne-Muskeldystrophie (DMD) ist eine interdisziplinäre und vielschichtige Aufgabe. Entsprechend dem für die große Mehrheit der Betroffenen nahezu konstanten Verlauf richtet sie sich nach einem stadienorientierten Konzept. Obwohl bis heute noch keine kausale Therapie der DMD zur Verfügung steht, können ihr Verlauf und v. a. die Lebensqualität der Patienten durch etablierte medizinische Maßnahmen entscheidend verbessert werden.
Therapiestrategien
Zu den orthopädischen Problemen bei DMD-Patienten gehören Kontrakturen der unteren und oberen Extremitäten sowie die Sitzinstabilität infolge progredienter Skoliose mit Beckenschiefstand. Die orthopädische Behandlung umfasst konservative Maßnahmen wie Physiotherapie, Hilfsmittel- und Rollstuhlversorgung sowie kontrakturlösende Operationen der unteren Extremitäten und operative Stabilisierung der Wirbelsäule. Darüber hinaus werden Orthopäden und Unfallchirurgen mit der Versorgung und Prophylaxe von durch Osteoporose begünstigten Frakturen bei diesen Patienten konfrontiert. Der frühzeitige Beginn mit einer Glukokortikoidtherapie verzögert den Verlust der motorischen Fähigkeiten deutlich.
Behandlungsaspekte
Ein wichtiger Aspekt in der Betreuung der DMD-Patienten ist die zeitige Prophylaxe und Behandlung der respiratorischen Insuffizienz mit regelmäßiger Atemtherapie, das Erlernen von Atem- und Hustentechniken sowie der rechtzeitige Beginn einer nichtinvasiven apparativ-assistierten Beatmung. Ebenso relevant sind die Früherkennung und die kardioprotektive Behandlung der Kardiomyopathie.
Schlussfolgerung
Der Orthopäde begleitet den Patienten und seine Familie durch alle Stadien der Erkrankung und muss entsprechend über das aktuelle Management und die Behandlungsstrategien auch über die Grenzen seines Fachgebiets hinaus informiert sein.
Abstract
Background
The medical care of patients with Duchenne muscular dystrophy (DMD) is an interdisciplinary and multifaceted task. The vast majority of those affected show a nearly constant course which is reflected in a corresponding stage-oriented treatment concept. Although there is still no causal therapy available for DMD, the course and in particular the quality of life of patients can be decisively improved by established medical practices.
Therapeutic strategies
The orthopedic problems of DMD patients include contractures of the upper and lower extremities as well as sitting instability due to progressive scoliosis with pelvic imbalance. The orthopedic treatment incorporates conservative measures, such as physiotherapy, provision of orthotic devices and wheelchairs as well as surgery to resolve contractures of the lower extremities and surgical stabilization of the spine. Furthermore, in these patients orthopedic surgeons and trauma surgeons are confronted with the treatment and prophylaxis of fractures induced by osteoporosis. An early onset of glucocorticoid therapy markedly delays the loss of motor abilities.
Treatment aspects
An important aspect in the care of DMD patients is the timely prophylaxis and treatment of respiratory insufficiency with regular sessions of breathing therapy, learning breathing and coughing techniques and the sufficiently early start of non-invasive mechanically assisted ventilation. Of similar relevance are also the early recognition and cardioprotective treatment of cardiomyopathy.
Conclusion
The orthopedic surgeon accompanies the patient and family through all stages of the disease and must be appropriately informed on current management and treatment strategies even outside the limits of the personal field of specialization.
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Interessenkonflikt. A. Fujak, G. Haaker, J. Funk geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.
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Fujak, A., Haaker, G. & Funk, J. Aktuelle Betreuungsstrategien bei Duchenne-Muskeldystrophie. Orthopäde 43, 636–642 (2014). https://doi.org/10.1007/s00132-013-2217-7
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DOI: https://doi.org/10.1007/s00132-013-2217-7