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

What is the primary objective of this study?

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.

Who is eligible to participate?

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:

Which medical condition, disease, disorder, syndrome, illness, or injury is researched?

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

Study Interventions

Interventions can include giving participants drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available or noninvasive approaches such as surveys, education, and interviews.

Study Arms

Research studies and clinical trials typically have two or more research arms. An arm is a group of people who receive the same treatment in the study.

Study Status

Unknown status

Start Date: April 2010

Completed Date:

Phase:

Type: Observational

Design:

Primary Outcome:

Secondary Outcome:

Study sponsors, principal investigator, and references

Principal Investigator: Yi-Ting Hsu, MD

Lead Sponsor: China Medical University Hospital

Collaborator:

More information:https://clinicaltrials.gov/show/NCT01250704

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