Inherited Myokymia: A Clinical and Genetic Study of a Family
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ClinicalTrials.gov Identifier: NCT01250704
Recruitment Status : Unknown
Verified November 2010 by China Medical University Hospital. Recruitment status was: Recruiting
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.
Condition or disease
A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome
Genomic DNA was extracted from each patient's peripheral blood leukocytes using Genomaker DNA extraction kit (Blossom, Taipei, Taiwan). The complete KCNA1 coding region, including the intron/exon boundaries, was amplified according to the procedure reported by Imbrici et al
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We interview and examine the family members directly at our hospital and home visit or indirectly by telephone visit.
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.