LAMA2-related muscular dystrophy is a genetic disorder that weakens and wastes the muscles in the body. There are two main types of this condition:
Early-Onset LAMA2-Related Muscular Dystrophy: This type usually shows up at birth or within the first few months of life. Babies with this form have very weak muscles, making it hard for them to sit or stand without help. Breathing problems and difficulties in feeding can also occur. Some infants might have stiff joints, curved spine, weak eye muscles, and seizures. Intellectual disabilities are rare but can happen in some cases. Treatment focuses on helping the child with feeding, breathing, and physical therapy. Seizures and other neurological issues may need specific medications.
Late-Onset LAMA2-Related Muscular Dystrophy: This type appears later in childhood or adulthood. It’s milder than the early-onset form and affects muscles closer to the body’s core, like the shoulders and thighs. People with this form might have delayed motor skills but often learn to walk without help. Over time, they might experience stiff joints, curved spine, breathing problems, and heart issues. Treatment aims to improve the person’s abilities. Physical therapy helps with joint flexibility, and breathing issues might need special care. Regular monitoring for problems like heart and breathing issues is important.
In both cases, doctors focus on managing symptoms and improving the patient’s quality of life through various therapies and support.
This form of muscular dystrophy is caused by pathogenic (disease-causing) variants in the LAMA2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Other names for this condition are laminin alpha-2 deficient muscular dystrophy, MDC1A, and merosin-deficient muscular dystrophy.