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MUSCULAR DYSTROPHY
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Defination
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Muscular dystrophy is a group of diseases
that cause progressive weakness and loss
of muscle mass. In muscular dystrophy,
abnormal genes (mutations) interfere with
the production of proteins needed to form
healthy muscle. There are many kinds of
muscular dystrophy. Symptoms of the most
common variety begin in childhood, mostly
in boys. Other types don't surface until
adulthood.
Causes
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Genetic changes cause MD, and each type is due to
a different set of mutations. However, all the
mutations prevent the body from producing
dystrophin, a protein essential for building and
repairing muscles.
Although dystrophin makes up a small percent of
the total proteins in muscles, it is an essential
molecule for their normal function. It glues various
parts of muscle tissue together and links them to
the sarcolemma, or the outer membrane.
Types
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Duchenne muscular dystrophy (DMD)
Becker muscular dystrophy (BMD)
Facioscapulohumeral muscular dystrophy
(FSHD)
Congenital muscular dystrophies (CMD)
Emery-Dreiffus muscular dystrophy (EDMD)
Limb-girdle muscular dystrophy (LGMD)
Myotonic dystrophy
Oculopharyngeal muscular dystrophy (OPMD)
There are more than 30 different types of
muscular dystrophy. Some of the more common
forms include:
Symptoms
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Enlarged calf muscles.
Difficulty walking or running.
Unusual walking gait (like waddling).
Trouble swallowing.
Heart problems, such as arrhythmia and
heart failure (cardiomyopathy).
Learning disabilities.
Stiff or loose joints.
Muscle pain.
Curved spine (scoliosis).
Breathing problems.
Diagnosis
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Enzyme assay: Damaged muscles produce
creatine kinase (CK). Elevated levels of CK
without other types of muscle damage could
suggest MD.
Genetic testing: Doctors can screen for the
genetic mutations that occur in MD.
Heart monitoring
Lung monitoring
Electromyography
Biopsy: Removing a portion of the muscle and
examining it under a microscope can show signs
of MD.
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Treatment
Currently, there is no cure for MD. Medications
and various therapies can slow the progression
of the condition and improve a person’s mobility.
If a person has DMD, they may receive injections
of drugs that target certain genes. People with
DMD have a mutation in the gene that produces
dystrophin, a protein that protects and builds
muscle tissue. Individuals with specific gene
mutations may be eligible for this gene therapy,
and researchers are working to develop new
gene therapies that can halt or reverse muscle
loss.
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Physiotherapy
Mobility and stretching exercises can help
combat the tightening of muscles and tendons,
also known as contractures.
Breathing assistance: As the muscles used for
breathing become weaker, a person may need
devices to help them breathe while they sleep.
In severe cases, they may need to use a
ventilator.
Mobility aids: Canes, wheelchairs, and walkers
can help a person stay mobile.
Braces: These keep muscles and tendons
stretched, slowing their shortening.
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