Living with Congenital muscular dystrophy 1B
A rare genetic muscle condition with weakness, tight joints, and breathing muscle problems that begin in infancy.
Understanding Congenital muscular dystrophy 1B
Weakness is mostly in muscles closer to the center of the body, such as the neck, face, and the diaphragm (the breathing muscle). Joints like the Achilles tendon, elbows, and hands become tight (contractures), and muscles may look enlarged. Breathing problems can develop early, usually in the first decade of life. Children often reach movement milestones late. It starts in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Weakness in neck, face, and breathing muscles
- Stiff spine
- Tight joints (contractures)
- Enlarged-looking muscles
- Breathing problems, including at night
- Delayed movement milestones
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
GARD says changes in genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cmd1b; congenital muscular dystrophy type 1b; mdc1b
Patient organizations
- Muscular Dystrophy AssociationCongenital muscular dystrophy 1B · United States
- Cure CMD - Congenital Muscular DystrophyCongenital muscular dystrophy 1B · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital muscular dystrophy 1B.
Explore research for Congenital muscular dystrophy 1B
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