What is Muscular Dystrophy?
Muscular Dystrophy (MD) is a genetic disorder that weakens the muscles
that help the body move. People with MD have incorrect, or missing information in their genes, which prevents them from making
the proteins they need for healthy muscles. The genes for the main types of Muscular Dystrophy are X-linked recessive
traits which means they generally affect only boys, but are carried and passed on by women.
Types of MD
Some types of Muscular Dystrophy include Becker, Congenital,
Duchenne, Distal, Emery-Dreifuss, Facioscapulohumeral, Limb-Girdle, Oculopharyngeal,
and Myotonic. All affect different sets of muscles resulting in different degrees of muscle weakness. Duchenne MD
is the most common and severe form of the disease. It affects about 1 out of every 3,500 boys. Girls can carry the gene for
the disease, but usually have no symptoms. This condition is caused by a mutation in the dystrophin gene on the
X-chromosome. The most common types of mutations are deletions, duplications, and point mutations.
Symptoms
The symptoms for all muscular
dystrophies are similar. The main
types of MD include principle symptoms
such as:
- Progressive
muscle wasting, weakness, and loss of function
- Delayed development of basic
muscle skills and coordination in children
- Poor balance with frequent falls,
walking difficulty with waddling gait and calf pain, and limited range of movement
- Obesity
- Joint contractures
- Cataracts, frontal baldness, drooping eyelids, gonadal atrophy, and mental impairment (in some cases)
Life With Muscular Dystrophy
Many children with MD follow a normal
development pattern during their first few years of life. As time goes on, many common symptoms begin to appear. A child who
has MD may start to stumble, waddle, have difficulty going up stairs, and toe walk. A child may start to struggle to get up
from a sitting position or have a hard time pushing things. It is also common for a young child with MD to develop enlarged
calf muscles, a condition called calf pseudohypertrophy, as muscle tissue is destroyed and replaced by fat. As you can see,
Muscular Dystrophy affects people externally and internally. Males with Duchenne's MD are usually in a wheelchair by age 12
and rarely live past the age of 20. The outcomes of this disorder depend on the type of Muscular Dystrophy. Internal effects
include damage to proteins.
Diagnosis and Treatments
Muscular Dystrophy can be diagnosed
by doctors during physical exams. If a physician suspects a child to have MD he/she will ask about family history
and any other problems affecting the muscles that the child might be experiencing. In addition, a doctor may perform a series
of tests to detect what form of MD the child has. Blood tests and muscle biopsies may also be given. Once a child is diagnosed
with MD treatment is definitely needed. There is no cure for MD and no specific treatment to stop this disorder. Genetic counseling
is recommended to families of affected individuals to check the carrier status of other family members. Physical therapy,
exercise, orthopedic appliances, or orthopedic surgery are some options to help improve the quality of life and preserve muscle
function for people with MD.
There's Hope!
Although there is no cure yet for
Muscular Dystrophy, researchers are learning more about how to prevent and treat the condition. Doctors are also working on
improving muscle and joint function, and slowing muscle deterioration so that people with MD can live as actively and
independently as possible. YOU can help to find a cure for MD. The Muscular Dystrophy Association would like to raise $25,000
by the end of February. This may seem like lots of money, but with help from everyone the goal can be reached. Every little
bit counts!
The Muscular Dystrophy
Association
This is a national voluntary
health agency dedicated to conquering
more than 40 neuromuscular diseases that affect a million Americans of all ages.
345 Mashall Road
Saint Louis, MO 63119
(314)962-0023
To donate click
here: http://www.mdausa.org/
