Inherited Myokymia: A Clinical and Genetic Study of a Family

November 29, 2010 updated by: China Medical University Hospital
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.

Study Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

18

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Taiwan
      • Taichung, Taiwan, 404
        • Recruiting
        • China Medical University Hospital
        • Contact:
      • Taichung, Taiwan, 404
        • Not yet recruiting
        • China Medical University Hospital
        • Contact:
        • Principal Investigator:
          • Yi-Ting Hsu, MD
        • Principal Investigator:
          • Chon-Haw Tsai, MD,PhD
        • Principal Investigator:
          • Yu-Wan Yang, MD,MS
        • Principal Investigator:
          • FUU-JEN Tsai, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

We interview and examine the family members directly at our hospital and home visit or indirectly by telephone visit.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Cross-Sectional

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

China Medical University Hospital

Investigators

  • Study Director: Yi-Ting Hsu, MD, China Medical University Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2010

Primary Completion (Anticipated)

March 1, 2011

Study Registration Dates

First Submitted

November 29, 2010

First Submitted That Met QC Criteria

November 29, 2010

First Posted (Estimate)

December 1, 2010

Study Record Updates

Last Update Posted (Estimate)

December 1, 2010

Last Update Submitted That Met QC Criteria

November 29, 2010

Last Verified

November 1, 2010

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • DMR99-IRB-190

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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