Reviewed by: Amy W. Anzilotti, MD. Larger text size Large text size Regular text size. What Is Muscular Dystrophy? Kids with Duchenne or Becker muscular dystrophy might: have trouble climbing stairs be clumsy trip and fall a lot toe walk have leg pain have weak arm, leg, or face muscles have large calves Symptoms of Duchenne dew-SHEN and Becker muscular dystrophy are progressive. What Causes Muscular Dystrophy? How Is Muscular Dystrophy Diagnosed? Doctors diagnose muscular dystrophy by: asking questions about symptoms doing an exam asking if others in the family have muscular dystrophy doing blood tests, including genetic testing taking a muscle biopsy looking at a small piece of muscle under a microscope doing an EMG a test that checks how the nerves and muscles are working together doing an EKG or echocardiogram to check the heart How Is Muscular Dystrophy Treated?
Treatment may include: physical therapy a walker, wheelchair, or crutches braces and splints breathing support medicines nutritional counseling surgery for scoliosis How Can Parents Help? Another approach targets utrophin production. Utrophin is a protein similar to dystrophin that is not affected by muscular dystrophy. If utrophin production could be upregulated, the disease might be halted or slowed.
If the dystrophin gene is being read by protein synthesis machinery and it reaches a mutation, it stops and does not complete the protein. Drugs are being trialed that cause the protein-making equipment to skip the mutated content and still continue to create dystrophin. Rather than target the genes behind muscular dystrophy, some researchers are attempting to slow the inevitable muscle wasting. Muscles, in standard circumstances, can repair themselves.
Research into controlling or increasing these repairs could show some benefits for people with muscular dystrophy. Researchers are looking at the possibility of inserting muscle stem cells capable of producing the lacking dystrophin protein. Current projects are looking at the most useful type of cells to use and ways in which they could be delivered to skeletal muscle.
During the early stages of muscular dystrophy, myoblasts also called satellite cells repair and replace faulty muscle fibers. As the myoblasts become exhausted, the muscles are slowly turned into connective tissue.
Some studies have attempted to insert modified myoblast cells into muscles to take over from the exhausted natural myoblasts. Spinal muscular atrophy SMA is a collection of inherited neuromuscular diseases. Muscle weakness is the main symptom, and this can affect breathing…. Amyotrophic lateral sclerosis ALS , or Lou Gehrig's disease, is a fatal degenerative neurological condition that causes progressive weakening. Internal vibrations, or internal tremors, are shaking sensations felt inside the body, and a person will often show no visible movement.
These tremors…. Multiple sclerosis MS and amyotrophic lateral sclerosis ALS both affect the central nervous system, but in different ways. All about muscular dystrophy. What is muscular dystrophy? Symptoms Treatment Types Causes Outlook Diagnosis Current research Muscular dystrophy refers a group of disorders that involve a progressive loss of muscle mass and consequent loss of strength. Share on Pinterest Muscular dystrophy causes the gradual weakening of skeletal muscle.
A dominant inherited disorder means you only need to inherit the mutated gene from one parent to be affected. Chromosomes are long, threadlike structures of DNA. A male has one X and one Y sex chromosome, and a female has two X chromosomes.
A sex-linked disorder is caused by a mutation in a gene on the X chromosome. As males only have one copy of each gene on the X chromosome, they'll be affected if one of those genes is mutated. As females have two copies of the X chromosome, they're less likely to develop an X-linked condition, because the normal copy of the chromosome can usually cover for mask the altered version. Females can still be affected by X-linked disorders, but the condition is usually less severe than when the gene alteration is present in an affected male.
Spontaneous gene mutations can occasionally cause MD. This is where the genes mutate for no apparent reason, changing the way the cells function. Spontaneous gene mutations can cause MD to develop in people who don't have a family history of the condition. Another way a child with no family history can be affected is when the condition is recessive.
The gene mutations may have been present on both sides of the family for many generations but may not have affected anyone until a child inherited a copy of the altered gene from both parents. Genes are units of DNA that determine many of your body's characteristics, such as the colour of your hair and eyes.
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