Learn About Myotonia Congenita

What is the definition of Myotonia Congenita?

Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth. It occurs more frequently in northern Scandinavia.

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What are the alternative names for Myotonia Congenita?

Thomsen's disease; Becker's disease

What are the causes of Myotonia Congenita?

Myotonia congenita is caused by a genetic change (mutation). It is passed down from either one or both parents to their children (inherited).

Myotonia congenita is caused by a problem in the part of the muscle cells that are needed for muscles to relax. Abnormal repeated electrical signals occur in the muscles, causing a stiffness called myotonia.

What are the symptoms of Myotonia Congenita?

The hallmark of this condition is myotonia. This means the muscles are unable to quickly relax after contracting. For example, after a handshake, the person is only very slowly able to open and pull away their hand.

Early symptoms may include:

  • Difficulty swallowing
  • Gagging
  • Stiff movements that improve when they are repeated
  • Shortness of breath or tightening of the chest at the beginning of exercise
  • Frequent falls
  • Difficulty opening eyes after forcing them closed or crying

Children with myotonia congenita often look muscular and well-developed. They may not have symptoms of myotonia congenita until age 2 or 3.

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What are the current treatments for Myotonia Congenita?

Mexiletine is a medicine that treats symptoms of myotonia congenita. Other treatments include:

  • Phenytoin
  • Procainamide
  • Quinine (rarely used now, due to side effects)
  • Tocainide
  • Carbamazepine
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What are the support groups for Myotonia Congenita?

The following resources can provide more information on myotonia congenita:

  • Muscular Dystrophy Association -- www.mda.org/disease/myotonia-congenita
  • National Library of Medicine, Medline Plus -- medlineplus.gov/genetics/condition/myotonia-congenita/
What is the outlook (prognosis) for Myotonia Congenita?

People with this condition can do well. Symptoms only occur when a movement is first started. After a few repetitions, the muscle relaxes and the movement becomes normal.

Some people experience the opposite effect (paradoxical myotonia) and get worse with movement. Their symptoms may improve later in life.

What are the possible complications of Myotonia Congenita?

Complications may include:

  • Aspiration pneumonia caused by swallowing difficulties
  • Frequent choking, gagging, or trouble swallowing in an infant
  • Long-term (chronic) joint problems
  • Weakness of the abdominal muscles
When should I contact a medical professional for Myotonia Congenita?

Contact your provider if your child has symptoms of myotonia congenita.

How do I prevent Myotonia Congenita?

Couples who want to have children and who have a family history of myotonia congenita should consider genetic counseling.

Superficial anterior muscles
Deep anterior muscles
Tendons and muscles
Lower leg muscles
What are the latest Myotonia Congenita Clinical Trials?
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Summary: Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological understanding of the phenotypic heterogeneity of Myotonic Dystrophy 1 by examining strategies to improve the reliability by making further refinements in o...

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Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome)

Summary: Human induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of human disease; the ability to reprogram patient-specific cells holds the promise of an enhanced understanding of disease mechanisms and phenotypic variability, with applications in personalized predictive pharmacology/toxicology, cell therapy and regenerative medicine. This research will collect blood or ...

What are the Latest Advances for Myotonia Congenita?
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.
Total Hip Arthroplasty Reduces Pain and Improves Function in Patients With Spondyloepiphyseal Dysplasia: A Long-Term Outcome Study of 50 Cases.
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Who are the sources who wrote this article ?

Published Date: January 23, 2022
Published By: Joseph V. Campellone, MD, Department of Neurology, Cooper Medical School at Rowan University, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Bharucha-Goebel DX. Muscular dystrophies. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 627.

Kang MK, Kerchner GA, Ptácek LJ. Channelopathies: episodic and electrical disorders of the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff’s Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 98.

Selcen D. Muscle diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 393.