杜氏肌营养不良-一个案例研究

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您请求的操作仅限于组中的用户:====当前情景==== J.D.这是他8岁时的评估结果。由于我们的治疗,J.D.能够保持他在学校的活动和参与,以及他喜欢的活动。不幸的是,他的下肢肌肉无力已经恶化以至于他不能再走路了。他现在处于疾病的早期非移动阶段。法学博士由于他无法行走,这对他的功能性活动造成了影响,他的PedsQL分数大幅下降。法学博士英国的MFM分数也有所下降。值得注意的是,J.D在远端肢体和运动功能领域的评分仍然较高。这表明该疾病主要影响近端肌肉,而手的远端肌肉仍未受影响。 Because of this J.D. is still able to find enjoyment with his Star Wars lego sets. Because of his decreased mobility the NSAA and 6MWT will no longer be used as an outcome measure as it may not be valid and meaningful to him anymore. J.D. has also seen some decreases in his seated balance indicated by his decreased score on the MFM Domain 2: Axial and Proximal Limb Motor Function. While seated J.D. is only now only able to accept mild internal perturbations. Manual muscle testing now reveals greater weakness in the proximal upper limb muscles scoring 3+ bilaterally in these muscles. Due to manual therapy and a home stretching program, ROM in the upper extremities has been spared. Because he is now in the non-ambulatory stage, respiratory function will start to become a greater concern. J.D. has been referred to a respiratory therapist for pulmonary function testing. He has also been referred an orthopaedic surgeon to monitor for changes in scoliosis and the need for braces and possible invasive procedures. An occupational therapist has also been involved in the treatment plan for J.D. They will be recommending home modifications now that J.D. is non-ambulatory. We will continue to see J.D. for weekly physical therapy sessions to continue to slow the disease progression. Inter-professional communication with all those that are involved in his care will be important to ensure we are providing the best care for J.D.

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