Myotonia congenita

Jump to: navigation, search
Myotonia congenita
ICD-10 G71.1
ICD-9 359.2
OMIM 160800
DiseasesDB 8736
MeSH D009224

WikiDoc Resources for Myotonia congenita

Articles

Most recent articles on Myotonia congenita

Most cited articles on Myotonia congenita

Review articles on Myotonia congenita

Articles on Myotonia congenita in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Myotonia congenita

Images of Myotonia congenita

Photos of Myotonia congenita

Podcasts & MP3s on Myotonia congenita

Videos on Myotonia congenita

Evidence Based Medicine

Cochrane Collaboration on Myotonia congenita

Bandolier on Myotonia congenita

TRIP on Myotonia congenita

Clinical Trials

Ongoing Trials on Myotonia congenita at Clinical Trials.gov

Trial results on Myotonia congenita

Clinical Trials on Myotonia congenita at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Myotonia congenita

NICE Guidance on Myotonia congenita

NHS PRODIGY Guidance

FDA on Myotonia congenita

CDC on Myotonia congenita

Books

Books on Myotonia congenita

News

Myotonia congenita in the news

Be alerted to news on Myotonia congenita

News trends on Myotonia congenita

Commentary

Blogs on Myotonia congenita

Definitions

Definitions of Myotonia congenita

Patient Resources / Community

Patient resources on Myotonia congenita

Discussion groups on Myotonia congenita

Patient Handouts on Myotonia congenita

Directions to Hospitals Treating Myotonia congenita

Risk calculators and risk factors for Myotonia congenita

Healthcare Provider Resources

Symptoms of Myotonia congenita

Causes & Risk Factors for Myotonia congenita

Diagnostic studies for Myotonia congenita

Treatment of Myotonia congenita

Continuing Medical Education (CME)

CME Programs on Myotonia congenita

International

Myotonia congenita en Espanol

Myotonia congenita en Francais

Business

Myotonia congenita in the Marketplace

Patents on Myotonia congenita

Experimental / Informatics

List of terms related to Myotonia congenita

For patient information click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. Symptoms may include muscle stiffness and hypertrophy (enlargement). The disorder is caused by a genetic mutation involving the chloride channel of the muscles. The muscle stiffness, which particularly occurs in the leg muscles, may be enhanced by cold and inactivity, and is often relieved by exercise.

Types

Historically two forms of myotonia congenita have been classified. The less severe form has been termed Thomsen myotonia congenita and is inherited in a dominant fashion; the more severe form has been termed Becker myotonia congenita and is inherited in a recessive fashion. More recently, as the individual mutations that give rise to this condition have been identified, these classifications are less widely used. The onset of the myotonia congenita is typically before the age of 20; most cases of myotonia congenita are nonprogressive and relatively nonlimiting.

It is important to note that involuntary twitches in skeletal muscle may not be caused by myotonia congenita as a far more common cause is fasciculation arising from benign fasciculation syndrome.

Goats of the "fainting goat" breed all suffer from this condition.

Genetics

Mutations in the CLCN1 gene cause myotonia congenita. The CLCN1 gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of ions into and out of muscle cells. Specifically, the protein produced from the CLCN1 gene forms a channel that controls the flow of negatively charged chloride ions into these cells. The main function of this channel is to stabilize the cells' electrical charge, which prevents muscles from contracting abnormally.

Mutations in the CLCN1 gene alter the usual structure or function of chloride channels. The altered channels cannot properly regulate ion flow, reducing the movement of chloride ions into skeletal muscle cells. This disruption in chloride ion flow triggers prolonged muscle contractions, which are the hallmark of myotonia.

The two forms of myotonia congenita have different patterns of inheritance. Thomsen disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Becker disease is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene, but do not show signs and symptoms of the disorder.

Because several CLCN1 mutations can cause either Becker disease or Thomsen disease, doctors usually rely on characteristic signs and symptoms to distinguish the two forms of myotonia congenita.

Treatment

Some cases of myotonia congenita do not require treatment. If necessary, however, symptoms of the disorder may be relieved with quinine, phenytoin, and mexiletine and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may also be used to help muscle function. Genetic counseling is available.

References

Cost Effectiveness of Myotonia congenita

| group5 = Clinical Trials Involving Myotonia congenita | list5 = Ongoing Trials on Myotonia congenita at Clinical Trials.govTrial results on Myotonia congenitaClinical Trials on Myotonia congenita at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Myotonia congenita | list6 = US National Guidelines Clearinghouse on Myotonia congenitaNICE Guidance on Myotonia congenitaNHS PRODIGY GuidanceFDA on Myotonia congenitaCDC on Myotonia congenita


| group7 = Textbook Information on Myotonia congenita | list7 = Books and Textbook Information on Myotonia congenita


| group8 = Pharmacology Resources on Myotonia congenita | list8 = AND (Dose)}} Dosing of Myotonia congenitaAND (drug interactions)}} Drug interactions with Myotonia congenitaAND (side effects)}} Side effects of Myotonia congenitaAND (Allergy)}} Allergic reactions to Myotonia congenitaAND (overdose)}} Overdose information on Myotonia congenitaAND (carcinogenicity)}} Carcinogenicity information on Myotonia congenitaAND (pregnancy)}} Myotonia congenita in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Myotonia congenita


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Myotonia congenita | list9 = AND (pharmacogenomics)}} Genetics of Myotonia congenitaAND (pharmacogenomics)}} Pharmacogenomics of Myotonia congenitaAND (proteomics)}} Proteomics of Myotonia congenita


| group10 = Newstories on Myotonia congenita | list10 = Myotonia congenita in the newsBe alerted to news on Myotonia congenitaNews trends on Myotonia congenita


| group11 = Commentary on Myotonia congenita | list11 = Blogs on Myotonia congenita

| group12 = Patient Resources on Myotonia congenita | list12 = Patient resources on Myotonia congenitaDiscussion groups on Myotonia congenitaPatient Handouts on Myotonia congenitaDirections to Hospitals Treating Myotonia congenitaRisk calculators and risk factors for Myotonia congenita


| group13 = Healthcare Provider Resources on Myotonia congenita | list13 = Symptoms of Myotonia congenitaCauses & Risk Factors for Myotonia congenitaDiagnostic studies for Myotonia congenitaTreatment of Myotonia congenita

| group14 = Continuing Medical Education (CME) Programs on Myotonia congenita | list14 = CME Programs on Myotonia congenita

| group15 = International Resources on Myotonia congenita | list15 = Myotonia congenita en EspanolMyotonia congenita en Francais

| group16 = Business Resources on Myotonia congenita | list16 = Myotonia congenita in the MarketplacePatents on Myotonia congenita

| group17 = Informatics Resources on Myotonia congenita | list17 = List of terms related to Myotonia congenita


}} de:Myotonia congenita Thomsen he:מיוטוניה קונגניטה


Linked-in.jpg