What Is Congenital Muscular Dystrophy?

Congenital muscular dystrophy (CMD) is a form of muscular dystrophy that presents itself at birth or in very young infants. Muscular dystrophy is a genetic disease that causes the muscles to degenerate, causing weakness and coordination problems. This form of the disease is diagnosed through the biopsy of muscle tissue, and symptoms will present themselves before the child is two years old.

CMD is caused by the mutation of one of the 3,000 muscle proteins in the body. This form of muscular dystrophy is thought to be caused by the mutation of laminin alpha-4, laminin alpha-2, integrin alpha 9, POM1, FKRP, or selenoprotein. Since congenital muscular dystrophy is a class of diseases, the prognosis, symptoms, and development of the disease will usually be determined by the severity of the mutation and the protein in which the mutation occurred. The genetic disorder can be passed down from one or both parents, either of which could be affected by the disease, or it could be passed down to a child if one or both of the child's parents are carriers of the genetic disease. Congenital muscular dystrophy can also occur as a result of spontaneous mutation in the cell of a fetus or infant.

Children born with congenital muscular dystrophy may present symptoms of a non-rigid spine, floppy limbs, and weak muscles. The child may have a weak throat or mouth muscles, which will make it difficult to swallow, and if the disease affects the diaphragm muscles, breathing can be difficult. Some protein cells affected by the mutation are also found in the brain, which can cause seizures and mental retardation. Digestion problems and frequent dizziness are also symptoms. As the disease progresses, the muscles of the heart, lungs, and other organs can become weakened, along with the progressing deterioration of the muscles in the limbs, which can lead to paralysis or crippling.

This disease cannot be cured, but treatment options to lessen the severity of the symptoms or future complications of the disease are available. Braces and orthopedic surgery options can help to fix abnormal limbs, scoliosis, and contractures, which is the shortening of a muscle. Exercise and physical therapy can help to prevent contractures and increase the person’s flexibility. A physician may suggest certain prescription or over-the-counter medications to reduce pain and stiffness, decrease inflammation, or prevent seizures. Other measures can be taken to reduce the disease’s effect on the heart and respiratory system.