Thomsen disease

Thomsen disease
ICD-10	G71.1
ICD-9	359.2
OMIM	160800
DiseasesDB	8736
MeSH	D009224

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Overview

Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder characterized by muscle stiffness (cramp) and an inability of the muscle to relax after a voluntary contraction. The affected muscle functions normally after a few repetitions.

Causes

It is associated with mutations in the chloride channel gene CLCN1.

Presentation

The disorder only affects voluntary muscles, so involuntary muscles such as the heart or muscles involved in the digestion process are not affected.

Treatment and prognosis

There is no known cure but some drugs may relieve symptoms. These include: Dilantin, Procainamide, Phenytoin and Mexiletine.

The disease is not fatal.

History

Julius Thomsen, a Danish physician, was the first to describe the disease, citing symptoms of his own family members.

External links

• synd/3554 at Who Named It

Cost Effectiveness of Thomsen disease

| group5 = Clinical Trials Involving Thomsen disease | list5 = Ongoing Trials on Thomsen disease at Clinical Trials.gov • Trial results on Thomsen disease • Clinical Trials on Thomsen disease at Google

| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Thomsen disease | list6 = US National Guidelines Clearinghouse on Thomsen disease • NICE Guidance on Thomsen disease • NHS PRODIGY Guidance • FDA on Thomsen disease • CDC on Thomsen disease

| group7 = Textbook Information on Thomsen disease | list7 = Books and Textbook Information on Thomsen disease

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

| group9 = Genetics, Pharmacogenomics, and Proteinomics of Thomsen disease | list9 = AND (pharmacogenomics)}} Genetics of Thomsen disease • AND (pharmacogenomics)}} Pharmacogenomics of Thomsen disease • AND (proteomics)}} Proteomics of Thomsen disease

| group10 = Newstories on Thomsen disease | list10 = Thomsen disease in the news • Be alerted to news on Thomsen disease • News trends on Thomsen disease</small>

| group11 = Commentary on Thomsen disease | list11 = Blogs on Thomsen disease

| group12 = Patient Resources on Thomsen disease | list12 = Patient resources on Thomsen disease • Discussion groups on Thomsen disease • Patient Handouts on Thomsen disease • Directions to Hospitals Treating Thomsen disease • Risk calculators and risk factors for Thomsen disease

| group13 = Healthcare Provider Resources on Thomsen disease | list13 = Symptoms of Thomsen disease • Causes & Risk Factors for Thomsen disease • Diagnostic studies for Thomsen disease • Treatment of Thomsen disease

| group14 = Continuing Medical Education (CME) Programs on Thomsen disease | list14 = CME Programs on Thomsen disease

| group15 = International Resources on Thomsen disease | list15 = Thomsen disease en Espanol • Thomsen disease en Francais

| group16 = Business Resources on Thomsen disease | list16 = Thomsen disease in the Marketplace • Patents on Thomsen disease

| group17 = Informatics Resources on Thomsen disease | list17 = List of terms related to Thomsen disease

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