Living with Merosin deficient congenital muscular dystrophy
An inherited muscle condition from birth or infancy with low muscle tone, weakness, and delayed movement skills.
Understanding Merosin deficient congenital muscular dystrophy
It mainly causes low muscle tone, muscle weakness, and muscle wasting. Other signs include a stiff spine, scoliosis, delayed motor skills, and need for mobility aids. Breathing problems, feeding trouble, and seizures may occur. GARD says intellectual development is typically normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone
- Muscle weakness and wasting
- Delayed motor skills
- Joint stiffness (contractures)
- Feeding difficulties and acid reflux
- Scoliosis and stiff spine
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 LAMA2 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 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 LAMA2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cmd1a; cmd1a - congenital muscular dystrophy type 1a; congenital merosin-deficient muscular dystrophy 1a; congenital merosin-deficient muscular dystrophy type 1a; congenital muscular dystrophy caused by mutation in lama2; congenital muscular dystrophy due to laminin alpha2 deficiency
Patient organizations
- Muscular Dystrophy AssociationMerosin deficient congenital muscular dystrophy · United States
- Cure CMD - Congenital Muscular DystrophyMerosin deficient congenital muscular dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Merosin deficient congenital muscular dystrophy.
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