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Duchenne Muscular Dystrophy

 

 

Duchenne Muscular Dystrophy (DMD) is an X-linked disorder that is characterized by progressive muscle weakness and other associated complications.  It affects approximately one out of 3,500 males, regardless of ethnic or socioeconomic background.  Around the age of five years, affected boys begin to stumble and fall more than is normal.  They also generally show a change in posture and often walk on their toes.  Some boys with DMD may also experience learning difficulties and may be mildly retarded.

 

Muscle weakness progresses over time and in some cases, wheelchair use is necessary by the age of thirteen.  Complications associated with DMD include breathing difficulties, scoliosis (abnormal curvature of the spine), and heart problems.  During the end stages of DMD, the entire body weakens, and the disease involves practically every system of the body.  Affected individuals generally die by the age of twenty years, mainly due to severe lung problems or heart failure.

 

Currently, there is no cure for DMD, but treatments are available for the symptoms.  Physiotherapy is available to help strengthen the muscle and to alleviate muscle pain.  Inhalants, antibiotics and other medications are also available to ease respiratory problems.  Steroid treatment of DMD remains controversial, but is an option.  Gene therapy, such as myoblast transfer, is being explored as a possible treatment for DMD.

 

Although the majority of DMD cases are inherited, about one third of cases of DMD are caused by sporadic and random gene mutation.  The chance that a woman with an affected son, apparently due to a sporadic gene mutations, will have another affected son or a daughter who is a carrier is increased.  Any family with a history of DMD is strongly encouraged to seek genetic counseling.

 

Couples now have the option to take advantage of a new test called Pre-Implantation Genetic Diagnosis (PGD).  PGD tests for genetic defects, such as the Duchenne Muscular Dystrophy gene, in embryos conceived through IVF.  Only healthy embryos are implanted and parents are assured that their children will not inherit or be a carrier for this disease.

 

 

Click here for more information on PGD

 

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Last modified: 06/09/04