What is

LAMA2 Muscular Dystrophy

A rare congenital genetic disorder affecting the muscles and nervous system

LAMA2 Muscular Dystrophy (LAMA2 CMD), also known as merosin-deficient congenital muscular dystrophy type 1A (MDC1A), is a rare genetic disorder that typically manifests from birth or within the first months of life. It is caused by mutations in the LAMA2 gene, which carries the instructions for producing the protein laminin-211 (merosin) — vital for the integrity of muscle fibers.

Laminin-211 (merosin) is a protein that forms the basement membrane — the thin sheath surrounding each muscle fiber. It connects the muscle cell to its surrounding tissue and ensures its stability. When the LAMA2 gene carries a mutation, the production of laminin-211 is disrupted or completely halted, making muscle fibers fragile and prone to damage.

Laminin-211

Important to know

Symptoms and challenges

Muscle weakness

Low muscle tone (hypotonia) from birth, affecting movement and posture

Joint contractures

Joint stiffness (elbows, knees, ankles) that limits range of motion

Breathing difficulties

Weakness of the respiratory muscles, which may require nighttime breathing support

Delayed motor development

Delayed or inability to reach motor milestones such as independent sitting or walking

Genetics

How it is inherited

LAMA2 muscular dystrophy is most commonly inherited in an autosomal recessive pattern — the child receives a mutated copy of the gene from each parent. In rare cases, spontaneous mutations can also occur without a family history of the condition.

Parents are usually healthy carriers — they have no symptoms themselves, but each carries one mutated copy of the LAMA2 gene. When both parents are carriers, there is a 25% (1 in 4) chance with each pregnancy that the child will be affected.

Care

Daily life with LAMA2

Although there is no cure yet, proper supportive care significantly improves quality of life:

Physiotherapy

Regular exercises to maintain muscle function, prevent contractures, and improve mobility

Respiratory support

Respiratory physiotherapy, monitoring of lung function, and non-invasive ventilation when needed

Speech therapy and feeding

Support for speech development and overcoming difficulties with eating and swallowing

Orthopedic care

Orthoses and assistive devices, monitoring of joint deformities and spinal curvature

Hope

Scientific research

There is currently no approved treatment for LAMA2 muscular dystrophy, but scientists around the world are actively working on several promising approaches:

Gene therapy – introducing a working copy of the gene into muscle cells, or activating compensatory genes, to restore laminin production
Protein therapy – delivering laminin directly to muscle fibers to compensate for the missing protein
Gene editing – using CRISPR technology to correct the mutation directly in the LAMA2 gene

LAMA2 Bulgaria Foundation follows the progress of these research efforts and works to raise awareness about the condition.

Progress

Therapies in development

Specific projects and programs that scientists are currently working on:

Learn more

Useful resources

International organizations working for children with LAMA2:

Have questions?

Contact

We'd be happy to answer your questions about LAMA2

You can contact us using the form below, by email contact@lama2.bg or on facebook

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