DMD Information

Updated on August 9, 2003

 

 

 

 

 

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Matt and Crockett

 

 

 

 

 

 

Duchenne muscular dystrophy (DMD) was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s. DMD is due to a mutation on the X-chromosome, which means it is an inherited X-linked trait. As a result, only boys are usually affected. The deletion of the dystrophin gene causes a lack of production of dystrophin. Dystrophin is a protein associated with the membrane surrounding each muscle fibre. In common terms, it acts like a glue to hold the muscle together. The gene is 2.5Mb in Xp21.

DMD boys appear normal at birth. Therefore, the onset of DMD is often ill defined. One of the first signs is enlarged calf muscles. Boys with DMD usually fall more often, are never able to run well, and have difficulty climbing stairs. They often walk on the toes with the abdomen pushed forward causing a waddling gait. This comes about from a weakness of muscles of the pelvis.

Getting up from a seated position on the floor becomes increasingly difficult. To compensate, boys use what is referred to as the Gower's method of rising. From a position on all fours, the boys presses on his thighs and climbs up them on order to extend the hips and then to a standing position.

Weakness of the shoulder muscles also increases, which makes it increasingly difficult to raise their arms. The heal cord begins to tighten up, also making walking more difficult. Due to all this, most boys become wheelchair bound by the age of 12. Once chair bound, scoliosis, curving of the spine, becomes a problem. Scoliosis is a serious problem because it results in compression of the lung. This in turn affects breathing and predisposes to chest infections. To limit the progression of scoliosis, there is a surgery that attaches rods to the spine.

There are basically three tests for diagnosis of DMD. The first is a blood test for the muscle enzyme creatine phosphokinease (CPK). In healthy persons, the CPK level is normally ranges from 100 to 200. However, in DMD CPK is elevated by 50 to over 100 times the normal level. A DNA test can be conducted to attempt to find a deletion in the dystrophin gene. Finally, a muscle biopsy is taken to test muscle tissue for the absence of dystrophin.

At the suggestion of a doctor, we had Matt's blood test to determine his CPK level. His test came back with a level of 19,800 !! The world seem to come crashing down on our family on the day the test came back. Diagnosis was DMD. To be sure, we had the muscle biopsy done. This test showed that all fibers were negative for dystrophin. His DNA test did not find a deletion. Based on these tests, it was confirmed that Matt has DMD.

There is currently no known cure for DMD. As you would imagine, we are very interested in DMD research and finding a cure. Presently the current research is focused on gene therapy, myoblast transfer, and drug therapy.

 

 

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