Diagnosis and management of Becker muscular dystrophy: the French guidelines
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 progn...
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| Veröffentlicht in: | Journal of neurology 2023-10, Vol.270 (10), p.4763-4781 |
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| creator | Magot, Armelle Wahbi, Karim Leturcq, France Jaffre, Sandrine Péréon, Yann Sole, Guilhem |
| description | 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. |
| doi_str_mv | 10.1007/s00415-023-11837-5 |
| format | Article |
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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. 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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.</description><subject>Becker's muscular dystrophy</subject><subject>Diagnosis</subject><subject>Disease management</subject><subject>Duchenne's muscular dystrophy</subject><subject>Heart</subject><subject>Life span</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Muscular dystrophy</subject><subject>Neurology</subject><subject>Neuromuscular diseases</subject><subject>Neuroradiology</subject><subject>Neurosciences</subject><subject>Review</subject><subject>Sciences of the Universe</subject><issn>0340-5354</issn><issn>1432-1459</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kU1P3DAQhq0KVBbaP9BDZYlLOQTGX4nTG-VbWqmX9mw5zuxulsTZ2gnS_nu8zQISB06WPM-8nvFDyDcG5wyguIgAkqkMuMgY06LI1CcyY1LwjElVHpAZCAmZEkoekeMY1wCgU-EzORKF5LwoxIzMrxu79H1sIrW-pp31dokd-oH2C_oL3SMG2o3Rja0NtN7GIfSb1fYnHVZIbwN6t6LLsamxbTzGL-RwYduIX_fnCfl7e_Pn6j6b_757uLqcZ04qMWTMgsott7lwUutq4VxR17KsKptXrBS5UqVA4ODKSivLmRUVQpFrpSqtpebihJxNuSvbmk1oOhu2preNub-cm91d-pecgVRPLLE_JnYT-n8jxsF0TXTYttZjP0bDtZJSsFztYk_foet-DD5tkqg8jSUlFIniE-VCH2PAxesEDMzOi5m8mOTF_PdiVGr6vo8eqw7r15YXEQkQExBTyS8xvL39Qewz_vqV2Q</recordid><startdate>20231001</startdate><enddate>20231001</enddate><creator>Magot, Armelle</creator><creator>Wahbi, Karim</creator><creator>Leturcq, France</creator><creator>Jaffre, Sandrine</creator><creator>Péréon, Yann</creator><creator>Sole, Guilhem</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><general>Springer Verlag</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><orcidid>https://orcid.org/0000-0002-7589-1421</orcidid></search><sort><creationdate>20231001</creationdate><title>Diagnosis and management of Becker muscular dystrophy: the French guidelines</title><author>Magot, Armelle ; 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| subjects | Becker's muscular dystrophy Diagnosis Disease management Duchenne's muscular dystrophy Heart Life span Medicine Medicine & Public Health Muscular dystrophy Neurology Neuromuscular diseases Neuroradiology Neurosciences Review Sciences of the Universe |
| title | Diagnosis and management of Becker muscular dystrophy: the French guidelines |
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