subject: Living with Muscular Dystrophy [print this page] Living with Muscular Dystrophy Living with Muscular Dystrophy
This article provides a summary of the complex group of diseases that make up the muscular dystrophy family and provides information that may be useful to a sufferer or their family and friends. For more detailed information please contact your physician.
What is Muscular Dystrophy?
Muscular dystrophy, known as MD, is a set of diseases that kill the muscle cells and muscle tissue in the body. MD can target the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and the brain. MD is a progressive disease that affects all ages and ethnic groups. Most forms of MD are inherited and called X-linked disorders (with the mother being a genetic carrier but unaffected themselves by the disease). It is rare for females to have MD as they have two X chromosomes and both would have to carry the defective gene, requiring the mother to be a carrier (have one defective gene) and the father to have MD.
The nine diseases that make up the MD family are:
Duchenne
Becker
Limb girdle
Congenital facioscapulohumeral
Myotonic
Oculophayngeal
Distal
Emery-Dreifuss
Myotonic and Duchenne are the most common forms of MD affecting adults and children respectively.
What are the symptoms of MD?
The primary symptom of MD is loss of leg strength, though it can affect shoulders, pelvis, face and elsewhere. It is common for an MD sufferer to have poor balance, with frequent falls, walking difficulties and a waddling gait.
Other symptoms include drooping eyelids, respiratory difficulty and muscle contractures. The progression of MD is type dependent. Some patients have a slow progressing, mild form resulting in moderate disabilities which do not impact life expectancy. Infant onset MD is usually more severe and can result in premature death.
What are the treatments available for MD?
There is no cure for MD. Patients focus on physical therapy to help retain muscle and stave off the affects of MD. For some sufferers surgery may be beneficial, including corrective orthopedic surgery and in Emery-Dreifuss and Myotonic MD cases, pacemaker surgery. Myotonia (the slow relaxation of muscles after voluntary contraction or electrical stimulation) which occurs in Myotonic MD can be treated with medication.
Loss of mobility is the main symptom of MD so daily life for a sufferer can be made much easier by orthopedic instruments such as wheelchairs, bed lifts, shower chairs, walkers and wall bars.
