Inherited Myokymia: A Clinical and Genetic Study of a Family

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

Official title:

Inherited Myokymia: A Clinical and Genetic Study of a Family

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01250704
• Other study ID #: DMR99-IRB-190
• Status: Recruiting
• Phase: N/A
• First received: November 29, 2010
• Last updated: November 29, 2010
• Start date: April 2010

Study information

• Verified date: November 2010
• Source: China Medical University Hospital
• Contact: Yi-ting Hsu, MD
• Phone: 886-4-22062121
• Email: formosa1005[@]yahoo.com.tw
• Is FDA regulated: No
• Health authority: Taiwan: Department of Health
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 18
• Est. primary completion date: March 2011
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A and older

Eligibility

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:

Study Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
Taiwan	China Medical University Hospital	Taichung
Taiwan	China medical university hospital	Taichung
Taiwan	China medical university hospital	Taichung

Sponsors (1)

Lead Sponsor	Collaborator
China Medical University Hospital

Country where clinical trial is conducted

Taiwan,