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What Is Congenital Muscular Dystrophy?

By Jami Yontz
Updated May 17, 2024
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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.

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Discussion Comments
By literally45 — On Oct 26, 2014

The son of a friend of mine has congenital muscular dystrophy. He used to be able to walk but he is in a wheelchair now. He also has some issues with mental development. He is a lovely child though, very calm, kind and cheerful. His parents and doctors do their best to provide him with everything he needs to do as much as what a child his age would do.

By bear78 — On Oct 26, 2014

@burcinc-- Yes, genetic testing can reveal whether parents carry this gene and anyone with a family member with muscular dystrophy should get genetic testing done if possible before family planning.

Unfortunately though, even if those with the genes avoided having children, there will still be infants born with muscular dystrophy because it is not always hereditary. Sometimes the genetic mutation occurs even though neither parent carries a gene for it. But it is suspected that the use of chemicals such as medications during pregnancy increases this risk. So mothers can avoid this and other genetic complications by avoiding all harmful things and chemicals during their pregnancy, especially the first three months. And parents with a gene for muscular dystrophy should consider what the consequences will be to a child with the disorder.

By burcinc — On Oct 25, 2014

Can parents get DNA tests to check for the traits that lead to congenital muscular dystrophy?

Since it's hereditary and passes on from parent to child, knowing about it beforehand may affect people's choices in regards to having children.

As far as I understand, this is very debilitating type of disorder. I read that people with a mild case of it may live into their fifties but some die very young in childhood. This is certainly a disorder that should be prevented if possible. Maybe one day, there will be a cure for it.

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