Muscular+Dystrophy

Ashton Burgess Biology 1 Honors 1st Block Mrs. Beatty

=** //__ LIMB-GIRDLE MUSCULAR DYSTROPHY __// **=

(Left)Healthy Individual;(Right) Person affected by Limb-Girdle Muscular Dystrophy

__**//Introduction//**__
Limb-Girdle Muscular Dystrophy(LGMD) or Erb's Muscular Dystrophy isn't just one disorder. It's a group of genetic disorders affecting certain voluntary muscles.

__//**Mode of Inheritance**//__
There are 19 different types of LGMD ranging from LGMD-1A which affects the Myotilin gene to LGMD-2L affecting the Fukutin gene. The type I will be researching is LGMD-2A, Calpainopathy, Leyden-Moebius Muscular Dystrophy which is autosomal recessive and affects the Calpain-3 gene. This gene gives the instructions to produce a protein needed by the muscles. People affected by this type of LGMD have 2 faulty copies of the Calpain-3 gene which is inherited by both parents which are carriers of the gene but are not effected.

__//**Clinical Description**//__
During LGMD many muscles are effected but the main muscles are those in the hips and shoulders which are referred to as limb girdles. Before being diagnosed with LGMD the symptoms are characterized as waddling because of the pain and beginning of muscle loss in the hips. Another maybe having trouble reaching above their head. Although only voluntary muscles are effected sometimes the progressive affects of Limb-Girdle reach the heart and lungs which may in time cause respiratory or cardiac problems which then can cause death. Another big part of this disease is immobility, many people because of the atrophy of muscles use the assistance of a wheelchair or scooter. Reading this you may think this is a very painful disease but the only pain experienced is pain in the joints. This disorder can begin in adolescence, early childhood or even later.

__//**Treatment(Tx)**//__
Right now there is no cure for LGMD-2A but with LGMD-2A being a recessive form of Limb-Girdle someday it could be plausible for a gene to be inserted to replace the gene that isn't working properly(gene therapy). The only treatment for this disorder is physical therapy to improve the mobility which is usually prescribed by the physician.

__//**Detection**//__
If you think you may have any form of Muscular Dystrophy the physician will usually check your family history for any evidence of the gene. He/She will also do a physical examination, a nerve conduction, a special blood test called an CK level as well as an electromyography.

__//**Sources**//__:
http://www.eorthopod.com (signs, symptoms) http://www.mdi.ie/downloads/LGMD_2A.pdf (treatment, description) http://en.wikipedia.org(genetics) http://neuromuscular.wustl.edu (treatment, genetics) http://esciencenews.com http://www.mda.org http://www.dmd.nl/LGMD.html http://www.ncbi.nlm.nih.gov http://www.wrongdiagnosis.com