Congenital muscular dystrophy is a genetic disorder that causes muscles to waste away, leading to weakness and coordination problems. It is caused by a mutation in one of the body’s muscle proteins and is diagnosed through muscle tissue biopsy. Symptoms appear before the child is two years old and include weak muscles, difficulty swallowing and breathing, seizures, and mental retardation. Treatment options are available to reduce the severity of symptoms or future complications of the disease.
Congenital muscular dystrophy (CMD) is a form of muscular dystrophy that occurs at birth or in very young children. Muscular dystrophy is a genetic disorder that causes muscles to waste away, causing weakness and coordination problems. This form of the disease is diagnosed through biopsy of muscle tissue and symptoms will appear before the child is two years old.
CMD is caused by mutation of one of the body’s 3,000 muscle proteins. This form of muscular dystrophy is thought to be caused by mutation of laminin alpha-4, laminin alpha-2, integrin alpha 9, POM1, FKRP, or selenoprotein. Because congenital muscular dystrophy is a class of disease, 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 has occurred. The genetic disorder can be passed on from one or both parents, both of whom may have the disease, or it could be passed on to a child if one or both of the child’s parents carry the genetic disorder. Congenital muscular dystrophy can also occur as a result of spontaneous mutations in the cell of a fetus or newborn.
Babies born with congenital muscular dystrophy may have symptoms of a non-stiff spine, floppy limbs, and weak muscles. Your child may have weak throat or mouth muscles, which will make swallowing difficult, and if the disease affects the diaphragm muscles, breathing may be difficult. Some protein cells affected by the mutation are also found in the brain, which can cause seizures and mental retardation. Digestive problems and frequent dizziness are also symptoms. As the disease progresses, the muscles of the heart, lungs, and other organs may weaken, along with progressive deterioration of the muscles in the limbs, which can lead to paralysis or disability.
This disease cannot be cured, but treatment options are available to reduce the severity of symptoms or future complications of the disease. Orthopedic surgery options and braces can help correct abnormal limbs, scoliosis, and contracture, which is the shortening of a muscle. Exercise and physical therapy can help prevent contractures and increase a person’s flexibility. A doctor may suggest certain prescription or over-the-counter medications to reduce pain and stiffness, reduce inflammation, or prevent seizures. Other measures can be taken to reduce the effects of the disease on the heart and respiratory system.
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