The Clinical Description of Duchenne Muscular Dystrophy

Clinical Description – A child with Duchenne Muscular Dystrophy usually express symptoms before the age of 6, but can appear as early as infancy. Duchenne muscular dystrophy is a disorder that progressively increases with severity as the patient gets older. There are several symptoms involved in the disorder. Fatigue and muscle weakness our common symptoms. Muscle weakness usually begins in the pelvis and leg region and occur less severely in the arms and neck. As a result, a child with the disorder has trouble with motor skills like walking, running, jumping, skipping, etc. and progressively losses the ability to walk by age 12. With the deteriorating of muscle cells, breathing difficulties and heart troubles occur around the age of 20 and leads to death usually by 25. Intellectual disabilities and learning disabilities with a lower IQ than the average child is also common (MedlinePlus).

Molecular Genetics – Duchenne muscular dystrophy is located on the X chromosome, with more than 1,000 mutations to the DMD gene. The DMD gene is the largest known human gene. The normal function of ...