First identified and described by the French neurologist, Guillaume Duchenne in the 1860s, Duchenne muscular dystrophy is the most common and most severe form of muscular dystrophy. It affects 1 in 3000 males and is caused by an X linked recessive gene carried by females and inherited almost exclusively by males.
Sings symptoms Duchenne Muscular Dystrophy
First signs of the disease become apparent between the age of two and five years. Toddlers are often late in learning to walk. Muscular weakness leads to frequent falls, a clumsy walk and poor running ability. The child has a waddling unsteady gait.
The disease gradually weakens skeletal and voluntary muscles in the arms, legs and trunk. The child with Duchenne muscular dystrophy (DMD) usually loses the ability to walk between the ages of seven and twelve. As muscle tissue wastes away it is not replaced. By the teens respiratory and heart muscles are often involved.
There is a higher frequency of intellectual impairment in people with DMD than in the general population. Intellectual impairment, unlike muscular weakness, is not a progressive condition.
Diagnosis muscular dystrophy
Diagnosis is made by history and observation of the physical symptoms. Muscle biopsy and a blood test to test for high levels of creatine kinase (CK) will confirm diagnosis of DMD.
Treatments for Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is usually fatal by the age of 25 years.
Genetic Testing Duchenne muscular dystrophy
A genetic test can be offered to family members to detect the presence of the genetic defect. This will allow females to find out if they are carriers of the disease.
