Living with Congenital muscular dystrophy with hyperlaxity
A rare genetic muscle condition with weakness from birth, tight joints near the body, and very loose joints farther out.
Understanding Congenital muscular dystrophy with hyperlaxity
Joints closer to the body can be tight (contractures), while joints farther out are overly flexible (hypermobility). Scoliosis or a stiff spine and delayed motor milestones are common. People may have a long, narrow face and, in rare cases, breathing failure, mild to moderate intellectual disability, or short stature. Walking may become harder over time.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Low muscle tone from birth (hypotonia)
- Slowly worsening muscle weakness
- Tight joints near the body
- Very loose joints farther out
- Scoliosis or stiff spine
- 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
- 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.
Also known as: cmdh
Patient organizations
- Muscular Dystrophy AssociationCongenital muscular dystrophy with hyperlaxity · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital muscular dystrophy with hyperlaxity.
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