Living with LAMA2-related muscular dystrophy
A muscle condition with weakness and wasting of the muscles used for movement, ranging from a severe early form to a milder later form.
Understanding LAMA2-related muscular dystrophy
Severity varies. The early-onset form shows at birth or in the first months, with severe weakness, low muscle tone, joint contractures, feeding trouble, and breathing problems. Many children do not learn to walk, and spine curves can develop. About a third have seizures. The late-onset form begins later in childhood or adulthood and looks like limb-girdle muscular dystrophy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Muscle weakness and wasting
- Low muscle tone in infants
- Joint contractures
- Feeding and breathing difficulties
- Curved spine (scoliosis)
- Seizures in about a third of the early-onset form
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 doesn't give more detail on the cause. The condition is named for changes in the LAMA2 gene.
Also known as: lama2-rd; laminin alpha 2-related dystrophy; laminin alpha-2 deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with LAMA2-related muscular dystrophy.
Explore research for LAMA2-related muscular dystrophy
Explore actively recruiting LAMA2-related muscular dystrophy studies with HealthSpark.
Find actively recruiting studies for LAMA2-related muscular dystrophy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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