Muscular dystrophy (MD) is a group of rare
inherited muscle diseases in which muscle fibers are
unusually susceptible to damage. Muscles, primarily
your voluntary muscles, become progressively weaker.
In the late stages of muscular dystrophy, fat and
connective tissue often replace muscle fibers. In
some types of muscular dystrophy, heart muscles,
other involuntary muscles and other organs are
affected.
Nine major types of muscular dystrophy occur. The
most common muscular dystrophies appear to be due to
a genetic deficiency of the muscle protein
dystrophin.
There's no cure, but medications
and therapy can slow the course of the disease.
Screening and diagnosis
A
careful review of your family's history of muscle disease can help your
doctor reach a diagnosis. In addition to a medical history review and
physical examination, your doctor may rely on the following in
diagnosing muscular dystrophy:
-
Blood tests.
Damaged muscles release enzymes such as creatine kinase (CK) into
the blood. High blood levels of CK suggest a muscle disease such as
muscular dystrophy.
-
Electromyography.
A thin-needle electrode is inserted through your skin 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. The distribution
of the disease can be determined by testing different muscles.
-
Ultrasonography.
High-frequency sound waves are used to produce precise images of
tissues and structures within your body. An ultrasound is a
noninvasive way of detecting certain muscle abnormalities, even in
the early stages of the disease.
-
Muscle biopsy.
A small piece of muscle is taken for laboratory analysis. The
analysis distinguishes muscular dystrophies from other muscle
diseases. Special tests can identify dystrophin and other markers
associated with specific forms of muscular dystrophy.
-
Genetic
testing.
In the past, certain blood tests that are used to analyze DNA
allowed some forms of muscular dystrophy to be diagnosed by
identifying a particular mutation of the dystrophin gene. A new DNA
test, called single condition amplification/internal primer (SCAIP)
sequencing, allows doctors to look at the entire dystrophin gene to
find multiple variations, providing more than just one type of
diagnosis. Researchers are hoping that this test will soon become
more widely available to the public.
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