Muscular Dystrophy (MD) is a disease that weakens the musculoskeletal system and affects the ability to move. MD also affects groups of muscles. In the 1860’s it was described that boys were progressively growing weaker, losing the ability to move and died at an early age. A decade after the first description a French, neurologist named Guillaume Duchenne gave account for thirteen boys with the most common and severe forms of Muscular Dystrophy. MD is being caused by a mutation of a gene within the X chromosome, and affects predominately males. Most MD are multisystem disorders and can affect other body systems that include the heart, gastrointestinal, nervous system, endocrine glands, eyes and brain. There are over 50,000 people in the United States that are diagnosed or living with muscular dystrophy.
The following are the nine major forms of muscular dystrophy:
• Myotonic: muscles have difficulty relaxing.
• Duchenne: most common form of the disease. This for is found to be genetic. This is form is passed on through the mother who is a carrier or family has a history of the disease. Symptoms start about the ages of 2 to 6 and by the time the child is about the ages of 10 to 12 the child would be in a wheel chair.
• Becker: this form affects boys. It starts at a later stage in life and can be less severe. Patients have been known to have problems with breathing, heart, muscles, and joints. Also been known to live long active lives without a wheelchair.
• Limb-girdle: affects boys and girls equally. This form progresses slowly and affects the shoulders, upper arm, hips and thighs.
• Facioscapulohumeral: affects boys and girls. It begins in their early teens or early adulthood. This form affects the face, shoulders, and legs. Patients will have trouble whistling, raising their arms, and tightly closing their eyes.
• Congenital: found in babies and young children. Affects both boys and girls and may cause learning and intellectual disabilities.
• Oculopharyngeal: onsets at 40 to 70 years of age. This form affects the eyelids, face, and throat, pelvic, and shoulders.
• Distal: the onset ages are 20 to 60. This form affects the hands, forearms, and lower legs. Initial weakening starts in the calf muscles.
• Emery-Dreifuss: there are 3 types of this form. The X-linked is the most common and each varies in symptoms. The disease causes a mutation of the LMNA gene and the EMD gene. Both hold codes for the protein components needed for the nuclear envelope.
Muscular dystrophy can be found as early as infancy up to middle age. The form of severity is determined at what age in which symptoms occur. MD may be caused by not only genetics passed on by the mother, but by nutritional defects and mutation of the dystrophin gene if the family does not have any history of MD. Genetic counseling is advised when there is a history of muscular dystrophy. There are many symptoms of muscular dystrophy and listed below are only a few.