PDF(Pubmed)
Abstract：
BACKGROUND: Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7 CMS requires different treatment than other CMS types. Regarding DOK7\'s special considerations and challenges ahead of neurologists, we describe seven DOK7 patients and evaluate their response to treatment.
METHODS: The authors visited these patients in the neuromuscular clinics of Tehran and Kerman Universities of Medical Sciences Hospitals. They diagnosed these patients based on clinical findings and neurophysiological studies, which Whole Exome Sequencing confirmed. For each patient, we tried unique medications and recorded the clinical response.
RESULTS: The symptoms started from birth to as late as the age of 33, with the mean age of onset being 12.5. Common symptoms were: Limb-girdle weakness in 6, fluctuating symptoms in 5, ptosis in 4, bifacial weakness in 3, reduced extraocular movement in 3, bulbar symptoms in 2 and dyspnea in 2 3-Hz RNS was decremental in 5 out of 6 patients. Salbutamol was the most effective. c.1124_1127dupTGCC is the most common variant; three patients had this variant.
CONCLUSIONS: We strongly recommend that neurologists consider CMS in patients with these symptoms and a similar familial history. We recommend prescribing salbutamol as the first-choice treatment option for DOK7 patients.
METHODS: The authors visited these patients in the neuromuscular clinics of Tehran and Kerman Universities of Medical Sciences Hospitals. They diagnosed these patients based on clinical findings and neurophysiological studies, which Whole Exome Sequencing confirmed. For each patient, we tried unique medications and recorded the clinical response.
RESULTS: The symptoms started from birth to as late as the age of 33, with the mean age of onset being 12.5. Common symptoms were: Limb-girdle weakness in 6, fluctuating symptoms in 5, ptosis in 4, bifacial weakness in 3, reduced extraocular movement in 3, bulbar symptoms in 2 and dyspnea in 2 3-Hz RNS was decremental in 5 out of 6 patients. Salbutamol was the most effective. c.1124_1127dupTGCC is the most common variant; three patients had this variant.
CONCLUSIONS: We strongly recommend that neurologists consider CMS in patients with these symptoms and a similar familial history. We recommend prescribing salbutamol as the first-choice treatment option for DOK7 patients.
摘要：
背景：先天性肌无力综合征（CMS）是神经肌肉领域最具挑战性的鉴别诊断之一，由不同的基因型和表型组成。对接蛋白7(Dok-7)中的突变是CMS的常见原因。DOK7CMS需要与其他CMS类型不同的处理。关于DOK7的特殊考虑和神经学家面临的挑战，我们描述了7例DOK7患者,并评估了他们对治疗的反应.
方法：作者在德黑兰和克尔曼大学医学院的神经肌肉诊所访问了这些患者。他们根据临床发现和神经生理学研究诊断这些患者，全外显子组测序证实。对于每个病人来说,我们尝试了独特的药物治疗,并记录了临床反应.
结果：症状从出生开始，直到33岁，平均发病年龄为12.5岁。常见症状为：肢体腰带无力6例，波动症状5例，下垂症状4例，双面无力3例，眼外运动减少3例，延髓症状2例，呼吸困难2例，3-HzRNS减少6例。沙丁胺醇是最有效的。c.1124_1127dupTGCC是最常见的变异；三名患者有这种变异。
结论：我们强烈建议神经科医师在有这些症状和相似家族史的患者中考虑CMS。我们建议将沙丁胺醇作为DOK7患者的首选治疗选择。
方法：作者在德黑兰和克尔曼大学医学院的神经肌肉诊所访问了这些患者。他们根据临床发现和神经生理学研究诊断这些患者，全外显子组测序证实。对于每个病人来说,我们尝试了独特的药物治疗,并记录了临床反应.
结果：症状从出生开始，直到33岁，平均发病年龄为12.5岁。常见症状为：肢体腰带无力6例，波动症状5例，下垂症状4例，双面无力3例，眼外运动减少3例，延髓症状2例，呼吸困难2例，3-HzRNS减少6例。沙丁胺醇是最有效的。c.1124_1127dupTGCC是最常见的变异；三名患者有这种变异。
结论：我们强烈建议神经科医师在有这些症状和相似家族史的患者中考虑CMS。我们建议将沙丁胺醇作为DOK7患者的首选治疗选择。
