| Autor: |
Magot, Armelle, Wahbi, Karim, Leturcq, France, Jaffre, Sandrine, Péréon, Yann, Sole, Guilhem, Ambrosi, Pierre, Boulle, Ralph, Cances, Claude, Cossee, Mireille, Debelleix, Stéphane, Delleci, Claire, Duboc, Denis, Feasson, Leonard, Ghorab, Karima, Goizet, Cyril, Gonzales, Jesus, Iriart, Xavier, Juntas-Morales, Raul, Llontop, Claudio |
| Předmět: |
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| Zdroj: |
Journal of Neurology; Oct2023, Vol. 270 Issue 10, p4763-4781, 19p |
| Abstrakt: |
Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelines have been published for management of BMD. Many clinicians are inexperienced in managing the complications of this disease. In France, a committee of experts from a wide range of disciplines met in 2019 to establish recommendations, with the goal of improving care of patients with BMD. Here, we present the tools to provide diagnosis of BMD as quickly as possible and for differential diagnoses. Then, we describe the multidisciplinary approach essential for optimum management of BMD. We give recommendations for the initial assessment and follow-up of the neurological, respiratory, cardiac, and orthopedic consequences of males who present with BMD. Finally, we describe the optimal therapeutic management of these complications. We also provide guidance on cardiac management for female carriers. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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