Muscular Dystrophy is a broad term that encompasses a group of rare genetic disorders that cause progressive muscle weakness and deterioration. It can affect people of all ages, genders, and backgrounds. While there is no cure for muscular dystrophy yet, it is important to understand the symptoms, diagnosis, treatments, and potential resources so that those affected by the condition can get the best possible care and support.
Types and Causes
Muscular Dystrophy is comprised of several different types, with the main types being Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Limb-Girdle muscular dystrophy. The cause of these disorders is genetic mutations on the X chromosome that can be passed from either parent. The mutation affects the body’s ability to produce healthy muscle proteins, leading to weakened and atrophied muscles throughout the body. While there are some forms of muscular dystrophy that manifest in early childhood, some types may not show symptoms until early adulthood.
Symptoms of muscular dystrophy vary depending on the type, but generally speaking they include muscle weakness and stiffness, decreased range of movement in the joints, a decrease in muscle mass, difficulty with balance and coordination, weak bones, and an increase in fatigue. Other symptoms may include problems swallowing or breathing due to weakened muscles in the throat and chest area. As the disease progresses further, more severe mobility problems can begin to arise. It is essential for those affected to be closely monitored for changes in function and mobility so that appropriate treatments can be put into place.
Diagnosis and Tests
Muscular Dystrophy can be difficult to diagnose and therefore it is often necessary to take a number of tests in order to confirm a diagnosis. These tests may include electromyography, genetic testing, muscle biopsy, and blood tests. Through these tests, doctors can determine if the patient has any of the mutations associated with muscular dystrophy, monitor changes in the muscles, and identify any abnormalities. DNA testing is also used for diagnosing specific types of muscular dystrophy in order for doctors to develop an appropriate treatment plan.
Treatment for Muscular Dystrophy is typically tailored to the specific type of muscular dystrophy in question and may include physical therapy, occupational therapy, corrective surgery, or medications. Physical therapy can help to maintain range of motion and muscle strength, while occupational therapy can focus on teaching patients how to carry out daily activities more effectively. Corrective surgery may be used to straighten and correct any posture issues that are caused by weakened muscles. Finally, medications such as corticosteroids may be prescribed in order to help reduce inflammation and improve overall functioning.
Supporting someone with Muscular Dystrophy can be a difficult yet rewarding experience. It is important to remain positive and understanding, while also being mindful of the practical needs that may arise. A few ways to support someone with muscular dystrophy include assisting them with daily activities such as eating or getting dressed, attending doctor’s appointments or therapy sessions if needed, helping make their living environment accessible, giving emotional support, and offering words of encouragement. By providing an understanding and supportive presence, friends and family members can make a world of difference in the life of someone with muscular dystrophy.
Muscular Dystrophy is a complex and life-altering condition that can affect all ages. Diagnosis and treatment plans involve a variety of tests and treatments, from genetic testing to physical therapy, and should be tailored to the individual needs of the patient. With continued progress in research and supportive care, people living with muscular dystrophy can live a long and fulfilling life.
Resources for People Living with Muscular Dystrophy
There are many resources available to those living with or affected by muscular dystrophy. These include support groups, community websites, government-funded initiatives and organizations, medical professionals, and physical therapists. There are also numerous books and articles written on the subject that can provide advice on a range of topics such as understanding diagnosis, managing symptoms, diet and exercise plans, finding accessible housing, and more. By taking advantage of these resources, those living with muscular dystrophy can lead healthier and more fulfilling lives.
For more information, check these sites.
Information on Human Neurological Diseases: Muscular Dystrophy
A list of medical links from Neurosciences on the Internet.
An overview and resources from the National Institute of Neurological Disorders and Stroke.
Muscular Dystrophy Association (Australia)
Information about MD and specific disorders, online publications, and interactive opportunities ranging from chat to video conferencing.
Muscular Dystrophy Association (MDA) (U.S.)
Information about MD and other neuromuscular diseases, MDA research and services, numerous publications about MD and specific disorders, a database of the organization’s clinics, an “Ask the Experts” section, and, of course, numerous ways to donate money for “Jerry’s Kids.” Recent additions worth noting include a complete online edition of the book Journey of Love: A Parent’s Guide to Duchenne Muscular Dystrophy and a chat room.
Muscular Dystrophy Association of Canada
This English/French site includes fact sheets and brochures, regional information, and fundraising information.
Muscular Dystrophy Campaign (UK)
Formerly the Muscular Dystrophy Group, this British charity funds medical research and support services for people with MD and other neuromuscular conditions. Its website includes fact sheets, research information, information relating to caregiving, assistive devices, education, and living with a disability, and links.
Muscular Dystrophy Family Foundation
Information about an organization that “provides services, resources, home medical equipment, and adaptive devices to help people with muscular dystrophy and their family members live independent and productive lives.”
Parent Project for Muscular Dystrophy Research
Information about an organization whose mission is to “expedite a treatment and cure for Duchenne and Becker Muscular Dystrophy by funding research and education.”