Abstract：
A 19-year-old female, normal at birth, grew up without neck movement when getting up. She needed a handrail to climb stairs since the age of 10 years old, and walked slowly since the age of 16 years old. Neurological examination revealed loss of deep tendon reflexes, decreased vibratory sensation, weakness of distal muscles of the lower extremities, and weakness of mainly cervical trunk muscles suspected to be due to myopathy. Nerve conduction studies suggested axonal polyneuropathy, and needle EMG showed short duration MUP, myotonic discharge, and rimmed vacuoles on muscle biopsy. Genetic analysis revealed a previously reported pathological mutation (p.P209L, heterozygous) in Bcl2-Associated Athanogene 3 (BAG3), and a diagnosis of MFM6 was made. P209L is a poor prognosis myopathy that develops in childhood and is associated with cardiomyopathy. P209L is a solitary myopathy associated with axonal neuropathy and characterized by apex foot contracture and weak neck to trunk flexion. This disease is suspected in young-onset neuromyopathy.
摘要：
一个19岁的女性,出生时正常,起床时没有脖子运动。她从10岁起就需要扶手爬楼梯，从16岁开始慢慢走。神经系统检查显示深肌腱反射丧失，振动感觉降低，下肢远端肌肉无力，怀疑是由肌病引起的主要颈干肌肉无力。神经传导研究提示轴索多发性神经病,和针肌电图显示短持续时间MUP，肌强直放电，肌肉活检上有边缘的空泡。遗传分析显示先前报道的病理突变（p。P209L,杂合）在Bcl2相关的Athanogene3（BAG3）中，并诊断为MFM6。P209L是一种预后不良的肌病，在儿童时期发展并与心肌病有关。P209L是一种与轴索神经病相关的孤立性肌病，其特征是脚尖挛缩和颈至躯干屈曲无力。这种疾病在年轻发作的神经肌病中被怀疑。
