In
most cases, muscular dystrophy (MD) runs in families. It usually develops after
inheriting a faulty gene from one or both parents.
MD is
caused by mutations (alterations) in the genes responsible for healthy muscle
structure and function. The mutations mean that the cells that should maintain
your muscles can no longer fulfill this role, leading to muscle weakness and
progressive disability.
Inheriting
muscular dystrophy
You
have two copies of every gene (with the exception of the sex chromosomes). You
inherit a copy from one parent, and the other copy from the other parent. If
one or both of your parents has a mutated gene that causes MD, it can be passed
on to you.
Depending
on the specific type of MD, the condition can be a:
recessive
inherited disorder
dominant
inherited disorder
sex-linked
(X-linked) disorder
In a
few cases, the genetic mutation that causes MD can also develop as a new event
in the family. This is known as a spontaneous mutation.
A
recessive inherited disorder
If
you have a recessive inherited disorder, it means you have inherited an altered
version of the gene that causes the condition from both of your parents (both
your copies of the gene are altered).
If a
child only inherits an altered version of the gene from one parent, they will
become a carrier of the condition. This means they are not affected, but there
is a chance that any children they have will be if their partner is also a
carrier.
If
both parents carry an altered version of the gene that causes the condition,
there's a:
1 in
4 chance their child will have MD
1 in
4 chance their child will be healthy but carry the mother's faulty gene
1 in
4 chance their child will be healthy but carry the father's faulty gene
1 in
4 chance their child will be healthy (will not inherit any mutated genes)
A
dominant inherited disorder
A
dominant inherited disorder means you only need to inherit the mutated gene
from one parent to be affected.
This
means that if you have a child with an unaffected partner, there is still a 50%
chance of your child developing the condition
A
sex-linked (X-linked) disorder
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 will be
affected if one of those genes is mutated.
As
females have two copies of the X chromosome, they are 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.
Types
of MD inherited in this way include Duchenne MD and Becker MD, which is why
these conditions are more common and more severe in males.
Spontaneous
gene mutations
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 do not 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.
Your
doctor is likely to start with a medical history and physical examination.
After
that, your doctor might recommend:
·
Enzyme tests. Damaged muscles release enzymes, such as creatine
kinase (CK), into your blood. In a person who has not had a traumatic injury,
high blood levels of CK suggest a muscle disease.
·
Genetic testing. Blood samples can be examined for mutations in
some of the genes that cause types of muscular dystrophy.
·
Muscle biopsy. A small piece of muscle can be removed through
an incision or with a hollow needle. Analysis of the tissue sample can
distinguish muscular dystrophies from other muscle diseases.
·
Heart-monitoring tests (electrocardiography and
echocardiogram). These tests are used to check heart function, especially
in people diagnosed with myotonic muscular dystrophy.
·
Lung-monitoring tests. These tests are used to check lung
function.
·
Electromyography. An electrode needle is inserted into the
muscle to be tested. Electrical activity is measured as you relax and as you
gently tighten the muscle. Changes in the pattern of electrical activity can
confirm a muscle disease.
Treatment
Although
there is no cure for any form of muscular dystrophy, treatment for some forms
of the disease can help extend the time a person with the disease can remain
mobile and help with heart and lung muscle strength. Trials of new therapies
are ongoing.
People
with muscular dystrophy should be monitored throughout their lives. Their care
team should include a neurologist with expertise in neuromuscular diseases, a
physical medicine and rehabilitation specialist, and physical and occupational
therapists.
Some
people might also need a lung specialist (pulmonologist), a heart specialist
(cardiologist0, a sleep specialist, a specialist in the endocrine system
(endocrinologist), an orthopedic surgeon and other specialists.
Treatment
options include medications, physical and occupational therapy, and surgical
and other procedures. Ongoing assessments of walking, swallowing, breathing and
hand function enable the treatment team to adjust treatments as the disease
progresses.
Medications
Your
doctor might recommend:
·
Corticosteroids, such as prednisone and deflazacort (Emflaza), which
can help muscle strength and delay the progression of certain types of muscular
dystrophy. But prolonged use of these types of drugs can cause weight gain and
weakened bones, increasing fracture risk.
·
Newer drugs include eteplirsen (Exondys 51), the first medication to
be approved by the Food and Drug Administration (FDA) specifically to treat
some people with Duchenne muscular dystrophy. It was conditionally approved in
2016.
In 2019,
the FDA approved golodirsen (Vyondys 53) for treatment of some people
with Duchenne dystrophy who have a certain genetic mutation.
·
Heart medications, such as angiotensin-converting enzyme (ACE)
inhibitors or beta blockers, if muscular dystrophy damages the heart.
Therapy
Several
types of therapy and assistive devices can improve the quality and sometimes
the length of life in people who have muscular dystrophy. Examples include:
·
Range-of-motion and stretching exercises. Muscular dystrophy
can restrict the flexibility and mobility of joints. Limbs often draw inward
and become fixed in that position. Range-of-motion exercises can help to keep
joints as flexible as possible.
·
Exercise. Low-impact aerobic exercise, such as walking and
swimming, can help maintain strength, mobility and general health. Some types
of strengthening exercises also might be helpful. But it is important to talk
to your doctor first because some types of exercise might be harmful.
·
Braces. Braces can help keep muscles and tendons stretched and
flexible, slowing the progression of contractures. Braces can also aid mobility
and function by providing support for weakened muscles.
·
Mobility aids. Canes, walkers and wheelchairs can help maintain
mobility and independence.
·
Breathing assistance. As respiratory muscles weaken, a sleep
apnea device might help improve oxygen delivery during the night. Some people
with severe muscular dystrophy need to use a machine that forces air in and out
of their lungs (ventilator).
Surgery
Surgery
might be needed to correct contractures or a spinal curvature that could eventually
make breathing more difficult. Heart function may be improved with a pacemaker
or other cardiac device.
Preventing
respiratory infections
Respiratory
infections can become a problem in muscular dystrophy. So, it is important to
be vaccinated for pneumonia and to keep up to date with influenza shots. Try to
avoid contact with children or adults who have an obvious infection.
More
Information
Coping
and support
A
diagnosis of muscular dystrophy can be extremely challenging. To help you cope,
find someone to talk with. You might feel comfortable discussing your feelings
with a friend or family member, or you might prefer meeting with a formal
support group.
If
your child has muscular dystrophy, ask your doctor about ways to discuss this progressive
condition with your child.
Preparing
for your appointment
You
might be referred to a doctor who specializes in the diagnosis and treatment of
muscular dystrophy.
What
you can do
·
Write down your or your child's signs and symptoms and when they began.
·
Bring photos or video recordings to show the doctor the symptoms
that concern you.
·
Write down key medical information, including other conditions.
·
Make a list of all medications, vitamins and supplements you or your
child takes, including doses.
·
Tell your doctor whether anyone in your family has been diagnosed
with muscular dystrophy.
Questions
to ask your or your child's doctor
·
What is the most likely cause of these signs and symptoms?
·
What tests are needed?
·
What are the possible complications of this condition?
·
What treatments do you recommend?
·
What is the long-term outlook?
·
Do you recommend that our family meet with a genetic counselor?
Do
not hesitate to ask other questions during your appointment.
What
to expect from your doctor?
Your
doctor is likely to ask you questions, such as:
·
Are the symptoms getting worse?
·
What, if anything, relieves them?
·
What, if anything, makes them worse?
·
Do you plan to have more children?
Tribute
to Jerry Lewis
As a
humanitarian, philanthropist and "number one volunteer", Lewis
supported fundraising for research into muscular dystrophy. In 1951, he and Dean
Martin made their first appeal for the Muscular Dystrophy Association (simply
known as MDA and formerly as the Muscular Dystrophy Associations of America and
MDAA) in early December on the finale of The Colgate Comedy Hour. In 1952,
after another appeal, Lewis hosted New York area telethons until 1959 and in
1954, fought Rocky Marciano in a boxing bout for MDA's fund drive.
Lewis’
annual MDA telethon aired from 1956 to 2010, each Labor Day weekend and raised
over $2.6 billion.
After
being named national chairman in 1956, Lewis began hosting and emceeing the
live annual event The Jerry Lewis MDA Labor Day Telethon (also titled as Jerry
Lewis Extra Special SPECIAL, Jerry Lewis Super Show and Jerry Lewis Stars
Across America) in 1966 and aired every Labor Day weekend for six decades,
first on WNEW, then in syndication.
Ed
McMahon, announcer of 30 years on The Tonight Show Starring Johnny Carson and
host of Star Search, began his involvement in the telethon in 1968, before
co-anchoring with Lewis from 1973 to 2008. It was seen on all local TV
stations, in all localities known as the MDA "Love Network" and
originated from different locations including New York, Las Vegas and
Hollywood, becoming the most successful fundraising event in the history of
television.
By
1990, pop culture had shifted its view of disabled individuals and the telethon
format. Lewis and the telethon's methods were criticized by disabled-rights
activists who believed the show was "designed to evoke pity rather than
empower the disabled". The activists said the telethon perpetuated
prejudices and stereotypes, that Lewis treated those he claimed to be helping
with little respect, and that he used offensive language when describing them.
The songs "Smile" (by Charlie Chaplin), "What the World Needs
Now Is Love" (by Jackie DeShannon) and "You'll Never Walk Alone"
(by Rodgers and Hammerstein) have been long associated with the telethon.
Lewis
rebutted the criticism and defended his methods saying, "If you don't tug
at their heartstrings, then you're on the air for nothing." The activist
protests represented an exceedingly small minority of countless MDA patients
and clients who had directly benefitted from Lewis's MDA fundraising. He
received a Nobel Peace Prize nomination in 1977, a Governor’s Award in 2005 and
the Jean Hersholt Humanitarian Award in 2009, in recognition of his fight and
efforts with the Muscular Dystrophy Association.
On August
3, 2011, it was announced that Lewis would no longer host the MDA telethons and
that he was no longer associated with the Muscular Dystrophy Association. A
tribute to Lewis was held during the 2011 telethon (which originally was to be
his final show bearing his name with MDA). On May 1, 2015, it was announced
that in view of "the new realities of television viewing and philanthropic
giving", the telethon was being discontinued.
In
early 2016, Lewis broke a five-year silence during a special taped message at
MDA's brand re-launch event at Carnegie Hall in New York City. His remarks on behalf
of the organization appeared on its website inn honor of its rebranding. The message broke his first (and as it turned out, his final)
appearance in support of MDA since his final telethon in 2010 and the end of
his tenure as national chairman in 2011. Lewis raised an estimated $2.6 billion
in donations for the cause.
MDA's
website states, "Jerry's love, passion and brilliance are woven throughout
this organization, which he helped build from the ground up, courted sponsors
for MDA, appeared at openings of MDA care and research centers, addressed
meetings of civic organizations, volunteers and the MDA Board of Directors,
successfully lobbied Congress for federal neuromuscular disease research funds,
and made countless phone calls and visits to families served by MDA.”
During
Lewis's lifetime, MDA-funded scientists discovered the causes of most of the
diseases in the Muscular Dystrophy Association's program, developing
treatments, therapies and standards of care that have allowed many people
living with these diseases to live longer and grow stronger. Over two hundred
research and treatment facilities were built with donations raised by the Jerry
Lewis Telethons.
Jerry
Lewis died in Las Vegas at age 91.
Jan
Ricks Jennings, MHA, LFACHE
Senior
Consultant
Senior
Management Services, LLC
JanJenningsBlog.Blogspot.com
412.913.0636
Cell
724.733.0509
Office
October
18, 2021
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