Living with Thomsen and Becker disease
A genetic muscle condition (myotonia congenita) in which muscles stay tight and are slow to relax.
Understanding Thomsen and Becker disease
Starting in childhood, muscles stay tensed and cannot relax normally (myotonia), most often in the legs. Stiffness can be mild or severe enough to affect walking and running. Many people find that repeated movement eases it for a while (the warm-up effect). Becker disease usually starts later in childhood than Thomsen disease and causes stiffer muscles, especially in males.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness (myotonia)
- Stiffness that eases with repeated movement (warm-up effect)
- Muscle aches
- Larger than usual muscles
- Temporary muscle weakness in Becker disease
- Mild, lasting weakness over time in Becker disease
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CLCN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association and Neuromuscular Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association, Neuromuscular Disease Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Both types are caused by changes in the CLCN1 gene. Thomsen disease is autosomal dominant, and Becker disease is autosomal recessive.
Also known as: myotonia congenita
Patient organizations
- Muscular Dystrophy AssociationThomsen and Becker disease · United States
- Neuromuscular Disease FoundationThomsen and Becker disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Thomsen and Becker disease.
Explore research for Thomsen and Becker disease
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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