In today's blog I wanted to go into one of the more common types of muscular dystophy, Duchenne Muscular Dystrophy or DMD. DMD is very similar to another type of MD known as Becker MD, which is a slightly less severe variation of the disease. Both of these types will nearly always affect boys rather than girls and will be diagnosed at a young age, usually between 3 and 6 years old.
DMD is a genetic disease and is caused by an X-linked recessive gene. This is what cause the disease to be very rare in females, because it would require two copies of the gene on each X chromosome. Parents will usually notice excessive clumsiness, difficulty with stairs, inability to jump, leg pain, and arm weakness at a level that is behind a normal child's motor development. One of the tell-tale signs that it is Duchennes is the presentation of Gower's sign, which is seen below. It indicates the child has difficulty moving from sitting to standing.
Another indication is large calves, where fatty tissue is replacing muscle mass and is usually noticeable in the legs first. It is important that parents notice their child is falling behind in order to begin PT and other measures to help the child in their development as soon as possible. Also preparing the child and the family for shock that their child will most likely be in a wheelchair by the age of 12 due to decreased LE strength.
Info regarding diagnosis and symptoms:
http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/muscular_dystrophy_90,P02771/
Picture can be found at:
https://www.google.com/search?q=gower%27s+sign&biw=1920&bih=955&source=lnms&tbm=isch&sa=X&ved=0ahUKEwjqtpKoh_3KAhULFj4KHcF-CH0Q_AUICCgD#imgrc=qUlG-ecmr66mOM%3A
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