Muscular Dystrophies

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MD can affect you emotionally, as well as physically. Support groups and organisations may help you understand and come to terms with your condition. They can also provide useful advice and support for those who care for people with MD. You can also ask your GP or other healthcare professionals treating you about local support groups.

Page last reviewed: 24 May Next review due: 24 May There's no cure for MD, but treatment can help to manage many of the symptoms. What causes muscular dystrophy? Types of muscular dystrophy There are many different types of MD, each with somewhat different symptoms. Who's affected by muscular dystrophy? In the UK, around 70, people have MD or a related condition.

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A child may start to struggle to get up from a sitting position or have a hard time pushing things, like a wagon or a tricycle. Kids with MD often develop enlarged calf muscles called calf pseudohypertrophy as muscle tissue is destroyed and replaced by fat.

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When first suspecting that a child has muscular dystrophy, a doctor will do a physical exam, take a family history, and ask about any problems — particularly those affecting the muscles — that the child might be having. In addition, the doctor may do tests to see what type of MD is involved and to rule out other diseases that could cause the problem. These might include a blood test to measure levels of serum creatine kinase , an enzyme that's released into the bloodstream when muscle fibers are breaking down.

High levels indicate that something is causing muscle damage.

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The doctor also may do a blood test to check the DNA for gene defects or do a muscle biopsy. In a muscle biopsy, the doctor surgically removes a small sample of muscle and looks at it under the microscope. The muscle cells of a person with MD have changes in appearance and could have low levels of dystrophin , a protein that helps muscle cells keep their shape and length. The different types of muscular dystrophy affect different sets of muscles and cause different degrees of muscle weakness. There's no cure for MD yet, but doctors are working to improve muscle and joint function, and slow muscle deterioration.

If your child is diagnosed with MD, a team of medical specialists will work with you and your family, including: a neurologist, orthopedist, pulmonologist, physical and occupational therapist, nurse practitioner, cardiologist, registered dietician, and a social worker.

  1. All about muscular dystrophy.
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  3. Duchenne and Becker muscular dystrophy - Genetics Home Reference - NIH.
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  5. Muscular dystrophy is often degenerative, meaning that it slowly affects more organs and can't be reversed. So, kids may pass through different stages as it progresses and need different kinds of treatment. During the early stages, physical therapy, joint bracing, and medications are often used. Muscle cells without enough of this protein become damaged as muscles repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies.

    Information for non-scientists on muscular dystrophies

    Mutations that lead to an abnormal version of dystrophin that retains some function usually cause Becker muscular dystrophy, while mutations that prevent the production of any functional dystrophin tend to cause Duchenne muscular dystrophy. Because Duchenne and Becker muscular dystrophies result from faulty or missing dystrophin, these conditions are classified as dystrophinopathies.

    This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome , which is one of the two sex chromosomes.

    Muscular Dystrophy: Types, Symptoms, and Diagnosis

    In males who have only one X chromosome , one altered copy of the gene in each cell is sufficient to cause the condition. In females who have two X chromosomes , a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In many cases, an affected male inherits the mutation from his mother, who carries one altered copy of the DMD gene.

    The remainder of cases probably result from new mutations in the gene in affected males and are not inherited. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD gene mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males.

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    6. Information for non-scientists on muscular dystrophies.
    7. Duchenne Muscular Dystrophy (DMD).
    8. Females who carry a DMD gene mutation also have an increased risk of developing heart abnormalities including cardiomyopathy. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol.