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:
  • gagging
  • difficulty in swallowing
  • shortness of breath
  • frequent falls
  • 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:
  • inheritance

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:
  • At birth

Common Gender

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:
  • aspiration pneumonia
  • frequent choking
  • swallowing difficulties
  • joint problems
  • gagging

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.

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