What is Muscular Dystrophy?
Muscular dystrophy (MD) is a group of genetic diseases that cause
weakness and muscle wasting, primarily in the skeletal or voluntary
muscles. These are the muscles we are normally able to control, such
as the muscles in our arms and legs. Most people with MD experience
some degree of muscle weakness during their lifetime. Each of the
various types of the disorder affects different muscle groups and
may have different symptoms. Because muscle weakness usually progresses
over time with muscular dystrophy, lifestyle changes along with assistive
devices and Occupational Therapy may be needed to help a person adapt
to new situations.
All the forms of MD
are inherited; that is, they are caused by mutations in a person’s genes. Our genes are made of DNA and reside in
our chromosomes. Each gene contains the “recipe” for
a different protein, and these proteins are necessary for our bodies
to function correctly. When a gene has a mutation, it may make a
defective protein or no protein at all. Most commonly, missing or
defective proteins in the muscles will prevent muscle cells from
working properly. The lack of proper muscle function leads to symptoms
of MD, including muscle weakness and muscle wasting over time.
Most forms of MD are progressive, meaning they tend to worsen with
time. The age of onset and rate of progression can vary widely with
different types of MD. Some types of MD can affect life expectancy.
In many cases today, advancing medical knowledge offers treatment
for symptoms that are most likely to decrease life expectancy. In
most cases of muscular dystrophy, muscle mass in the affected regions
may become visibly wasted or decrease in size. Eventually, the arms,
legs or trunk may become so weak they cannot move. Some forms of
MD are accompanied by con-tractures, which is stiffness in the joints,
and scoliosis, which is a curve in the spine.
Other forms of MD have effects on the respiratory muscles. In Duchenne
muscular dystrophy, the diaphragm and other muscles that operate
the lungs may weaken, making the lungs less effective in breathing.
If breathing abilities decline, a coughing machine can be used to
assist the patient in clearing lung secretions. Many individuals
with MD use a bi-pap machine, which provides non-invasive, assisted
ventilation to improve the ease of breathing during sleep. If respiratory
symptoms progress over time, assisted ventilation helps provide sufficient
airflow in and out of the lungs.
MD that affects the swallowing muscles may require the individual
to take precautions when eating or drinking so that food is not aspirated
into the lungs. Although most types of MD do not affect the brain,
several types do produce brain changes that may cause slight-to-severe
learning disabilities. Some forms of MD also affect the heart, and
if so, special precautions must be taken to monitor heart function.
In short, each type of MD has its own special areas of concern.
There are currently no cures for any form of muscular dystrophy,
but there are many therapies designed to help deal with common symptoms.
For instance, contractures may be helped by physical therapy and/or
tendon-release surgery. Scoliosis may respond to bracing or surgery.
Heart conditions may respond to medication and/or a pacemaker. With
advances in medicine today, many people with MD live very full lives.
But Where Did It Come From?
When
people are told they have a genetic disorder such as muscular dystrophy,
bewildered patients often ask, “But it doesn’t
run in the family, so how could it be genetic?” MD can run
in a family, even if only one person in the biological family has
it. Because of the manner in which genetic diseases are inherited,
they may be a subtle part of family medical history.
Each form of MD follows one of three patterns of inheritance: recessive,
dominant or X-linked. If the disease is caused by a recessive pattern,
two copies of the defective gene, one from each parent, are required
to produce the disease. Each parent will be a carrier of the gene
flaw, but neither parent will usually have the disease. If a disease
is caused by a dominant pattern, then only one copy of the genetic
defect is needed to cause the disease. Anyone with the gene flaw
will have disease symptoms and can pass the disorder to their children.
If a disease is caused by an X-linked pattern, it is passed from
mother to son. Daughters who inherit the X-linked pattern can be
MD carriers but they generally do not get the disease.
Many times MD appears
to occur “out of the blue,” but
in reality, one or both parents may be carriers of the genetic mutation.
Many parents have no idea they are carriers of a disease until they
have a child who has the disease. In rare cases, MD actually can
occur “out of the blue” when a new mutation occurs with
a baby’s conception, even if neither parent carries the gene
flaw. These cases of MD are called spontaneous mutations. After a
mutation occurs, the gene flaw can be passed on to the next generation,
thereby introducing the genetic pattern for a specific MD into a
family.
How Does the Muscular Dystrophy
Association Help?
Anyone diagnosed with one
of the 43 types of muscular dystrophy/neuromuscular disease that
the Muscular Dystrophy Association (MDA) covers is eligible to receive
services. Services available through the MDA nationwide are as follows:
• The MDA sponsors clinics at Fairview University Medical Center
and the Mayo clinic. The MDA provides third party payment for selected
medical expenses at these clinics. Physical and Occupational Therapy
can be arranged through your child’s school or through your
MDA clinic.
• The MDA provides up
to $2,000 every 3 years for children under 18 years old and $2,000
every 5 years for adults to use for the purchase of a wheelchair,
scooter or leg braces.
• The MDA provides up
to $500 every year for repairs to a wheelchair, scooter or leg braces.
• The
MDA provides up to $2,000 once in a lifetime towards the purchase
of an augmentative-communication device.
• The MDA locally manages
an equipment pool of donated equipment, which is loaned out to MDA
clients.
• The MDA hosts 9 local
support groups.
• The MDA locally hosts an annual conference,
free of charge, to MDA clients and health professionals in the community.
For more information,
contact the local MDA office in Edina by phone: 952-841-0533 or
email: minneapolisservices@mdausa.org.
