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Flotats-Bastardas M, Ebrahimi-Fakhari D, Bernert G, et al. Nichtgehfähige Patienten mit Duchenne-Muskeldystrophie : Empfehlungen zur Dokumentation des Krankheits- und Therapieverlaufs. [Non-ambulatory patients with Duchenne muscular dystrophy : Recommendations for monitoring disease progression and course of treatment]. Nervenarzt. 2019;90(8):817-823doi: 10.1007/s00115-019-0754-y.
Flotats-Bastardas, M., Ebrahimi-Fakhari, D., Bernert, G., Ziegler, A., Schlachter, K., Poryo, M., Hahn, A., & Meyer, S. (2019). Nichtgehfähige Patienten mit Duchenne-Muskeldystrophie : Empfehlungen zur Dokumentation des Krankheits- und Therapieverlaufs. [Non-ambulatory patients with Duchenne muscular dystrophy : Recommendations for monitoring disease progression and course of treatment]. Der Nervenarzt, 90(8), 817-823. https://doi.org/10.1007/s00115-019-0754-y
Flotats-Bastardas, Marina, et al. "Nichtgehfähige Patienten mit Duchenne-Muskeldystrophie : Empfehlungen zur Dokumentation des Krankheits- und Therapieverlaufs." [Non-ambulatory patients with Duchenne muscular dystrophy : Recommendations for monitoring disease progression and course of treatment]. Der Nervenarzt vol. 90,8 (2019): 817-823. doi: https://doi.org/10.1007/s00115-019-0754-y
Flotats-Bastardas M, Ebrahimi-Fakhari D, Bernert G, Ziegler A, Schlachter K, Poryo M, Hahn A, Meyer S. Nichtgehfähige Patienten mit Duchenne-Muskeldystrophie : Empfehlungen zur Dokumentation des Krankheits- und Therapieverlaufs. [Non-ambulatory patients with Duchenne muscular dystrophy : Recommendations for monitoring disease progression and course of treatment]. Nervenarzt. 2019 Aug;90(8):817-823. doi: 10.1007/s00115-019-0754-y. German. PMID: 31270551.
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Nervenarzt. 2019 Aug;90(8):817-823. doi: 10.1007/s00115-019-0754-y.

[Non-ambulatory patients with Duchenne muscular dystrophy : Recommendations for monitoring disease progression and course of treatment].

Der Nervenarzt

[Article in German]
Marina Flotats-Bastardas, Daniel Ebrahimi-Fakhari, Günther Bernert, Andreas Ziegler, Kurt Schlachter, Martin Poryo, Andreas Hahn, Sascha Meyer

Affiliations

  1. Klinik für Allgemeine Pädiatrie und Neonatologie, Sektion Neuropädiatrie, Universitätsklinikum des Saarlandes, Geb. 9, 66421, Homburg, Deutschland.
  2. Sozialmedizinisches Zentrum Süd, Kaiser-Franz-Josef-Spital mit Gottfried von Preyer'schem Kinderspital, Wien, Österreich.
  3. Sektion für Neuropädiatrie und Stoffwechselmedizin, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Heidelberg, Deutschland.
  4. Klinik für Kinder- und Jugendheilkunde, Landeskrankenhaus Bregenz, Bregenz, Österreich.
  5. Klinik für Pädiatrische Kardiologie, Universitätsklinikum des Saarlandes, Homburg, Deutschland.
  6. Abteilung Kinderneurologie, Sozialpädiatrie und Epileptologie, Universitätskinderklinik Gießen, Gießen, Deutschland.
  7. Klinik für Allgemeine Pädiatrie und Neonatologie, Sektion Neuropädiatrie, Universitätsklinikum des Saarlandes, Geb. 9, 66421, Homburg, Deutschland. [email protected].

PMID: 31270551 DOI: 10.1007/s00115-019-0754-y

Abstract

BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe X‑linked recessive neuromuscular disorder. In children without corticosteroid therapy, progressive muscular weakness is associated with loss of ambulation on average by the age of 9.5 years.

OBJECTIVE, MATERIAL AND METHODS: On the basis of current guidelines, a group of experts in this field defined a number of clinical parameters and examinations that should be performed on a regular basis to assess changes over time in non-ambulant patients.

RESULTS AND CONCLUSION: To assess function of the upper extremities the Brooke upper extremity functional rating scale or the performance of upper limb test should be used. For assessment of pulmonary function measurement of forced vital capacity (FVC) is recommended. The extent of cardiac involvement can best be evaluated using cardiac magnetic resonance imaging (MRI), measurement of the ejection fraction (EF) and the left ventricular shortening fraction (LVSF) by echocardiography. The pediatric quality of life inventory should be used for assessment of quality of life. In addition, the body mass index (BMI), the number of infections and need for in-hospital treatment as well as early detection of orthopedic problems, most importantly the development of scoliosis should be monitored. After transition from pediatric to adult care DMD patients should be primarily cared for by adult neurologists and specialists in pulmonary and cardiac medicine.

Keywords: Duchenne muscular dystrophy; Left ventricular dysfunction; Loss of ambulation; Pulmonary dysfunction; Transition

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