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Inherited Myokymia: A Clinical and Genetic Study of a Family

NCT01250704 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 18

Last updated 2010-12-01

No results posted yet for this study

Summary

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.

Conditions

  • A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome

Sponsors & Collaborators

  • China Medical University Hospital

    lead OTHER

Principal Investigators

  • Yi-Ting Hsu, MD · China Medical University Hospital

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2010-04-30
Primary Completion
2011-03-31

Countries

  • Taiwan

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01250704 on ClinicalTrials.gov