 Limb
Girdle Muscular Dystrophy
What is LGMD?
Limb girdle muscular dystrophy
is inherited. It is a disorder of voluntary muscles that results in progressive
limb, shoulder, and hip girdle weakness and wasting. Some of the symptoms
that show these types of weaknesses are soreness of the muscles and joints,
walking with a waddle, difficulties standing from the sitting position,
difficulties using the arms above the head, and in some, problems with
the heart and breathing. Onset of symptoms may occur from childhood to
adulthood and in either males or females. It has been thought that if
the symptoms arise in adulthood, the progression is not as fast as if
they arise in childhood. LGMD does not shorten one's lifespan, however,
problems can arise if the heart and lungs become weak.
What Causes LGMD?
The inheritance pattern of LGMD
varies and different genetic defects may result in the same clinical symptoms
in different patients. Sometimes, no obvious inheritance pattern can be
identified. Approximately 12 forms of LGMD exist and the genetic flaw
that causes it categorizes them. In a healthy person, genes make proteins
that allow the muscle to work. In someone with LGMD, the gene is flawed
so the proteins cannot work properly. This means the muscle does not function
as it normally should, so it becomes weak.
How is LGMD Diagnosed?
Limb girdle muscular dystrophy
is diagnosed mainly by creatine kinase level tests (a type of blood test),
muscle biopsies, and EMGs.
How is LGMD Treated?
There are treatments to help
with symptoms but no treatments are available to stop disease progression.
Some treatments that help the symptoms are physical therapy, surgery,
and care of the lungs and heart.
To Find a Specialist
To find a physician board-certified
to conduct needle EMG and NCSs click here: www.abemexam.org
For More Information
Muscular Dystrophy Association:
www.mdausa.org
Hereditary Disease Foundation:
www.hdfoundation.org
Alliance of Genetic Support
Groups: www.geneticalliance.org
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