Inherited Myokymia: A Clinical and Genetic Study of a Family
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China Medical University Hospital
临床试验: NCT01250704
BioSeek: NCT01250704
关键词
抽象
Neuromyotonia (NMT), so called Isaac's syndrome, is a rare disorder in which hyperexcitability of peripheral motor nerves leads to intermittent muscle contractions. It is characterized by muscle twitching at rest (visible myokymia), cramps, hyperhidrosis, paraesthesiae, mild muscle weakness. and impaired muscle relaxation, or pseudomyotonia. Electromyographic recording is a key diagnostic tool in detecting myokymia and neuromyotonia. Pathophysiology of neuromyotonia is claimed to be related immune disorder, autoimmune anti-voltage-gated potassium-channel antibodies and genetic mutation in potassium channel. KCNA1 (Kv1.1) mutation was mostly reported in a autosomal dominant trait. In the present study, we report a family affected with myokymia,worsening with elevated body temperature, febrile illness or spicy food. How the change in temperature influence clinical features of channelopathies is an interesting topic. Variant clinical severity of family members are recorded. The index patient has possible autoimmune mechanism involvement because of his clinical feature of myasthenia gravis with thymoma and hyperthyroidism. Further analyzing the genetic mutation in potassium channelopathy may provide researchers some pathophysiological insight into the Isaac's syndrome.
日期
最后验证: | 10/31/2010 |
首次提交: | 11/28/2010 |
提交的预估入学人数: | 11/28/2010 |
首次发布: | 11/30/2010 |
上次提交的更新: | 11/28/2010 |
最近更新发布: | 11/30/2010 |
实际学习开始日期: | 03/31/2010 |
预计主要完成日期: | 02/28/2011 |
状况或疾病
A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome
相
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资格标准
有资格学习的性别 | All |
取样方式 | Non-Probability Sample |
接受健康志愿者 | 是 |
标准 | Inclusion Criteria: - The disease was initially diagnosed of Isaacs syndrome by two neurologist(Dr Tsai and Dr Yang). We will recruit family members of diseased patient and normal subjects for clinical, electromyographic and genetic studies. Exclusion Criteria: - none |