Duchenne Muscular Dystrophy (DMD) is a genetic disorder, primarily affecting muscles. It is also known as pseudohypertrophic muscular dystrophy. DMD is named after Guillaume Benjamin Amand Duchenne, a 19th century French neurologist.
Some symptoms of DMD include weaknesses in the pelvis, upper limbs, heart, back and muscles around your lungs. There is also fatigue, mental retardation and difficulty with motor skills associated with the disease. These symptoms may cause frequent falling and clumsiness. Often times, the person affected faces progressive difficulty walking, and a wheelchair may be needed eventually. Despite theses muscle impairments, the person still has a fully functioning nervous system and still has the sense of touch. They also have full control over their bladder, despite weaknesses in the pelvis.
DMD is a genetic disorder, with a mutation in the X chromosome. This mutation prevents the production of the protein dystrophin. Dystrophin is a selectively permeable cell that helps muscle tissue repair itself. Missing or defective dystrophin may lead to the destruction of the cell. This is what causes DMD. DMD is a sex-linked genetic disorder. It is an X-linked recessive gene, meaning that females can be a carrier for the gene, however DMD is more common in males. DMD occurs in about 1 in every 3,600 baby boys. It is almost obsolete in females, however there are a few rare cases in which a female has DMD.
DMD is usually noticed between ages two and six.