Becker muscular dystrophy

贝克尔肌营养不良
  • 文章类型: Journal Article
    Becker肌营养不良(BMD)是神经肌肉疾病中最常见的疾病之一。影响大约每18,000名男性出生中就有1名。它与X染色体上的基因突变有关。与Duchenne肌营养不良相反,改善护理和管理改变了患者的预后和预期寿命,很少发布BMD管理指南。许多临床医生在管理这种疾病的并发症方面缺乏经验。在法国,来自广泛学科的专家委员会于2019年开会,以建立建议,目的是改善BMD患者的护理。这里,我们提出了尽可能快地提供BMD诊断和鉴别诊断的工具.然后,我们描述了优化BMD管理所必需的多学科方法。我们为神经系统的初步评估和随访提供建议,呼吸,心脏,以及存在BMD的男性的骨科后果。最后,我们描述了这些并发症的最佳治疗管理.我们还为女性携带者提供心脏管理指导。
    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.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    More patients suffering with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are presenting to perianesthesia settings for emergent and nonemergent treatment and care. A group of collaborative health care providers at Rush University Medical Center in Chicago developed a multidisciplinary DMD/BMD Task Force to study this disorder and create a set of guidelines to aid those engaging in the planning, execution of care, and recovery of this unique population in the perianesthesia setting. Attention to detail, well-executed preplanning, meticulous awareness of the patient, and prearranged implementation and intervention has proven to offset potential problems and complications and is the key to a successful perianesthesia period.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Sci-hub)

公众号