Living with Congenital muscular dystrophy
A group of inherited muscle conditions present at birth or early infancy that cause weak muscles.
Understanding Congenital muscular dystrophy
Common features include low muscle tone (hypotonia), muscle weakness that gets worse over time, and muscle wasting (atrophy). Joints can become tight (contractures), and milestones like sitting up and walking may come later. CMD can be caused by many different genes.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these common features:
- Low muscle tone (hypotonia)
- Muscle weakness that worsens over time
- Muscle wasting (atrophy)
- Tight joints (contractures)
- Delayed milestones, like sitting and walking
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 CMD, and many different genes can be involved. Most forms are autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. Some forms are autosomal dominant.
Also known as: cmd; mdc
Patient organizations
- Muscular Dystrophy AssociationCongenital muscular dystrophy · United States
- Cure CMD - Congenital Muscular DystrophyCongenital muscular dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital muscular dystrophy.
Explore research for Congenital muscular dystrophy
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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