Consortium for Health and Military Performance (CHAMP), Uniformed Services University of the Health Sciences, Bethesda, Maryland.
USUHS University Family Health Center, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
FP Essent. 2024 Sep;544:12-19.
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder with progressive proximal weakness as the principal sign. Glucocorticoids and physical therapy are the mainstay of treatment. Exercise intolerance is the hallmark of metabolic myopathies, which require a combination of laboratory testing, electrodiagnostic testing, and muscle biopsy for diagnosis. Joint hypermobility may be an isolated finding or be associated with hypermobility Ehlers-Danlos syndrome (EDS), other variants of EDS, or marfanoid syndromes. The latter conditions are associated with aortic and cardiac valvular abnormalities. Osteogenesis imperfecta encompasses a group of disorders characterized by bone fragility presenting with a low-impact fracture as a result of minimal trauma. Management includes multidiscipline specialists. Down syndrome (DS), or trisomy 21, is the most common chromosome abnormality identified in live births. Routine evaluation of atlantoaxial instability with x-ray is no longer recommended for children with DS without symptoms of atlantoaxial instability; however, clinical evaluation of symptoms is required for sports preparticipation. Achondroplasia is the most common skeletal dysplasia. Clinical signs are macrocephaly, short limb, short stature with disproportionately shorter humerus and femur, along with characteristic findings in pelvis and lumbar spine x-rays. Caregivers should be educated on proper positioning and handling to avoid complications, including car seat-related deaths.
杜氏肌营养不良症（DMD）是一种 X 连锁隐性遗传疾病，以进行性近端肌无力为主要表现。糖皮质激素和物理治疗是治疗的主要手段。运动不耐受是代谢性肌病的标志，需要结合实验室检查、电诊断检查和肌肉活检进行诊断。关节过度活动可能是孤立的发现，也可能与过度活动型埃勒斯-当洛斯综合征（EDS）、EDS 的其他变体或马凡综合征有关。后一种情况与主动脉和心脏瓣膜异常有关。成骨不全症包括一组以骨脆弱为特征的疾病，表现为轻微创伤导致的低创伤性骨折。管理包括多学科专家。唐氏综合征（DS）或 21 三体，是最常见的染色体异常，在活产儿中被发现。对于没有寰枢椎不稳定症状的 DS 儿童，不再推荐常规进行寰枢椎不稳定的 X 射线评估；然而，需要对症状进行临床评估，以进行运动前的参与。软骨发育不全是最常见的骨骼发育不良。临床表现为大头畸形、短肢、身材矮小，伴有不成比例的短肱骨和股骨，以及骨盆和腰椎 X 射线的特征性发现。应教育照顾者正确的定位和处理方法，以避免并发症，包括与汽车座椅相关的死亡。
