A genetic congenital neuromuscular disorder affecting the skeletal muscles. It is caused by mutations in the chloride channel gene (CLCN1 gene). It is characterized by muscle stiffness, hypertrophy, pain, and cramping.
Symptoms of Myotonia congenita
The following features are indicative of Myotonia congenita:
difficulty in swallowing
shortness of breath
tightening of the chest
stiffened movements of body
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Common Causes of Myotonia congenita
The following are the most common causes of Myotonia congenita:
genetic mutations in CLCN1 gene (Chloride Voltage-Gated Channel 1)
repetition of abnormal electrical signals in the muscles
Risk Factors for Myotonia congenita
The following factors may increase the likelihood of Myotonia congenita:
Prevention of Myotonia congenita
Yes, it may be possible to prevent Myotonia congenita.
Occurrence of Myotonia congenita
Number of Cases
The following are the number of Myotonia congenita cases seen each year worldwide:
Rare between 10K - 50K cases
Common Age Group
Myotonia congenita most commonly occurs in the following age group:
Myotonia congenita can occur in any gender.
Lab Tests and Procedures for Diagnosis of Myotonia congenita
The following lab tests and procedures are used to detect Myotonia congenita:
Electromyography (EMG): To measure an electrical activity of the muscles
Genetic testing: To identify the genetic mutations
Muscle biopsy: To examine the muscle tissue
Complications of Myotonia congenita if untreated
Yes, Myotonia congenita causes complications if it is not treated. Below is the list of complications and problems that may arise if Myotonia congenita is left untreated:
Self-care for Myotonia congenita
The following self-care actions or lifestyle changes may help in the treatment or management of Myotonia congenita:
Do gymnastics: Temporarily provides relief from Myotonia
Alternative Medicine for Treatment of Myotonia congenita
The following alternate medicine and therapies are known to help in the treatment or management of Myotonia congenita:
Physical therapy: To improve the muscle functioning
Patient Support for Treatment of Myotonia congenita
The following actions may help Myotonia congenita patients:
Join support and advocacy groups: Provides patient centered information and provides research for better treatments and possible cures of Myotonia congenita
Time for Treatment of Myotonia congenita
While time-period of treatment for each patient may vary, below is the typical time-period for Myotonia congenita to resolve if treated properly under an expert supervision:
More than 1 year
Last updated date
This page was last updated on 2/04/2019.
This page provides information for Myotonia congenita.