Aoki Reika, Kokubun Norito, Komagamine Tomoko, Ishii Yuko, Nishino Ichizo, Hirata Koichi
Department of Neurology, Dokkyo Medical University.
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP).
Rinsho Shinkeigaku. 2020 May 26;60(5):334-339. doi: 10.5692/clinicalneurol.cn-001380. Epub 2020 Apr 18.
Hereditary myopathy with early respiratory failure (HMERF) with heterozygous mutations in the titin gene (TTN) is characterized by respiratory failure developing from the early phase of limb weakness or gait disturbance. Here, we describe a characteristic distribution of muscle involvement in three members of a HMERF family with a TTN mutation. Despite the differences in severity exhibited among the father, daughter and son, the systemic imaging studies showed a similar pattern among these individuals. The semitendinosus and fibularis longus muscles were selectively affected, as described previously. In addition, we found marked atrophy in the sternocleidomastoid and psoas major muscles, regardless of the disease severity. The atrophy in selective trunk muscles observed in routine CT scans can be useful for the differential diagnosis of hereditary myopathies with heart and respiratory failure.
伴有肌联蛋白基因（TTN）杂合突变的遗传性肌病伴早期呼吸衰竭（HMERF）的特征是，呼吸衰竭从肢体无力或步态障碍的早期阶段开始发展。在此，我们描述了一个携带TTN突变的HMERF家族中三名成员肌肉受累的特征性分布。尽管父亲、女儿和儿子之间表现出严重程度的差异，但全身影像学研究显示这些个体之间存在相似的模式。如先前所述，半腱肌和腓骨长肌受到选择性影响。此外，我们发现胸锁乳突肌和腰大肌明显萎缩，与疾病严重程度无关。在常规CT扫描中观察到的选择性躯干肌肉萎缩，可能有助于对伴有心脏和呼吸衰竭的遗传性肌病进行鉴别诊断。
