Laminin subunit alpha 2-related congenital muscular dystrophy (LAMA2-CMD) is a rare, inherited disorder that affects the muscles and nervous system. It is caused by mutations in the LAMA2 gene, which provides instructions for making a protein called laminin-alpha-2. This protein is a component of laminin-211, a molecule that helps form the structural framework of muscle fibers. Without enough of this protein, the muscle fibers are weakened and unable to function properly. Symptoms of LAMA2-CMD can include muscle weakness, muscle wasting, joint contractures, and difficulty walking.

The symptoms of Laminin subunit alpha 2-related congenital muscular dystrophy vary from person to person, but may include:

- Muscle weakness, especially in the legs
- Difficulty walking or standing
- Joint contractures
- Muscle wasting
- Low muscle tone
- Difficulty swallowing
- Respiratory problems
- Intellectual disability
- Seizures
- Abnormal curvature of the spine (scoliosis)
- Abnormal curvature of the lower spine (lordosis)
- Abnormal curvature of the upper spine (kyphosis)
- Abnormal curvature of the neck (torticollis)
- Abnormal curvature of the feet (clubfoot)
- Abnormal curvature of the hands (clenched fists)
- Abnormal curvature of the hips (

Laminin subunit alpha 2-related congenital muscular dystrophy (LAMA2-CMD) is caused by mutations in the LAMA2 gene, which provides instructions for making a protein called laminin alpha-2. This protein is a component of laminin-211, a molecule that helps form the structural framework of muscle fibers. Mutations in the LAMA2 gene lead to the production of an abnormal laminin alpha-2 protein or a reduced amount of the protein, which disrupts the formation of muscle fibers and causes the signs and symptoms of LAMA2-CMD.

At this time, there is no known cure for Laminin subunit alpha 2-related congenital muscular dystrophy. Treatment focuses on managing symptoms and preventing complications. Treatment may include physical therapy, occupational therapy, speech therapy, orthopedic devices, braces, and medications to help manage muscle spasms and pain. Surgery may be recommended to correct joint deformities or to help improve mobility. Nutritional counseling may also be recommended to help maintain a healthy weight.

1. Mutations in the LAMA2 gene, which encodes the laminin subunit alpha 2 protein.

2. Family history of the disorder.

3. Being a male.

4. Being of European descent.

5. Having a mother who is a carrier of the mutated gene.

At this time, there is no cure for Laminin subunit alpha 2-related congenital muscular dystrophy. However, there are medications and treatments that can help manage the symptoms of the condition. These include physical therapy, occupational therapy, speech therapy, and medications to help manage muscle spasms and pain. Additionally, some people may benefit from the use of assistive devices such as wheelchairs, walkers, and braces.