Khadilkar S, Bhutada A, Nallamilli B, Hegde M
Department of Neurology, Grant Government Medical College and JJ Hospital, Mumbai, India and *Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, Georgia, 30322, USA. Correspondence to: Prof Satish Khadilkar, 110, New Wing, First Floor, Bombay Hospital, 12, New Marine Lines, Mumbai 400 020, India.
Indian Pediatr. 2015 Mar 8;52(3):243-4. doi: 10.1007/s13312-015-0616-z.
Congenital Myasthenic Syndromes (CMS) are heterogeneous genetic diseases.
Two siblings presented with progressive limb girdle weakness without significant fluctuations or ocular muscle weakness. Repetitive nerve stimulation showed a decremental response and there was no response to pyridostigmine therapy.
A trial of salbutamol produced a remarkable, consistent improvement. Mutation in exon 5 of the DOK7 gene was found in both siblings.
Patients with congenital myasthenic syndrome with DOK 7 mutation benefit remarkably with salbutamol.
先天性肌无力综合征（CMS）是一组异质性遗传性疾病。
两名同胞表现为进行性肢体带肌无力，无明显波动，也无眼肌无力。重复神经刺激显示递减反应，对吡啶斯的明治疗无反应。
沙丁胺醇试验产生了显著且持续的改善。在两名同胞中均发现DOK7基因第5外显子突变。
患有DOK7突变的先天性肌无力综合征患者使用沙丁胺醇可显著获益。
