Living with Bethlem myopathy
A rare condition that slowly weakens muscles and stiffens joints, especially fingers, wrists, elbows, and ankles.
Understanding Bethlem myopathy
It most often affects the fingers, wrists, elbows, and ankles. Signs may begin before birth, shortly after birth, in early childhood, or in adulthood. Rarely, severe muscle weakness may cause breathing difficulties in later life. Diagnosis is based on exam and lab tests, and genetic testing may confirm it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowly worsening muscle weakness
- Joints that cannot fully straighten (contractures)
- Weakness near the center of the body (hips, shoulders)
- Weak neck muscles
- Fingers that stay bent (camptodactyly)
- Changes in the way a person walks
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Muscular Dystrophy Association 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
- 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
Changes in the COL6A1, COL6A2, or COL6A3 genes cause this condition. Most cases are autosomal dominant, and rarely it is autosomal recessive.
Also known as: benign autosomal dominant myopathy; benign congenital muscular dystrophy; bethlem myopathy type 1
Patient organizations
- Muscular Dystrophy AssociationBethlem myopathy · United States
- Cure CMD - Congenital Muscular DystrophyBethlem myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Bethlem myopathy.
Explore research for Bethlem myopathy
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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