Muscular Dystrophy (MD) Information

Muscular Dystrophy (MD) Information

Muscular Dystrophy (MD), is a rare genetic disease that affects persons of all races around the world and is characterized by weakness and wasting of muscle tissue; in some cases this may also include the heart. There are nine types of this disease, some of which affect one or both genders at varying stages of life. The different types of this disease are: Becker, Duchenne, congenital, distal, Emery-Dreifuss, facioscapulohumeral, limb-girdle, myotonic, and oculopharyngeal. MD is an inherited disease usually caused by an abnormal gene that can be passed on to children by either one or both parents. Duchenne MD and Becker MD, for example, are both passed on by an X chromosome from the mother, while oculopharyngeal MD and limb-girdle MD are passed on by both the mother and father. Although most of the varying forms of the disease are slow to progress and will worsen in time, those who suffer from them in most cases will have a normal life expectancy. Children who suffer from Duchenne MD and congenital MD, however, may have a higher mortality rate.

Becker Muscular Dystrophy (BMD)

Becker Muscular Dystrophy (BMD) is a form of MD that is characterized by a gradual weakening of the lower body muscles. Depending on the rate of deterioration, some men may eventually need the assistance of a wheelchair or cane as they get older. BMD is an inherited disease that occurs predominately in males, with an average onset around the age of 12 years old. Similar to Duchenne MD, BMD is caused by an abnormal gene on the X-chromosome that causes a decreased production of the protein dystrophin.

  • Neuromuscular Diseases Information: An overview of diagnostic tests and treatments, including links to outside criteria and a resource guide to the disability.

  • American Academy of Neurology: Information on BMD as well as DMD. This page also includes a link to view a report based on a study of new treatment alternatives.

  • Medline Plus: An easy to understand, yet in depth, review of BMD that covers information from the cause of the disease to when one should contact a physician.

Congenital Muscular Dystrophy (CMD)

As a congenital disease, CMD is present at birth and can affect both male and female infants. It is characterized by muscle weakness and contractures that can cause joint problems and deformities. Often children with CMD develop learning disabilities, brain abnormalities and even seizures. Depending on the type, a shortened lifespan may be indicated.

  • Gene Reviews: A detailed overview of CMD by the University of Washington, that applies genetic testing to the diagnosis, counseling and management of patients.

  • Cure CMD: Information on research, conferences, events and news as related to CMD. The resources page offers numerous links to therapy, equipment, support groups, and advocacy.

Duchenne Muscular Dystrophy (DMD)

DMD is the most recognized type of muscular dystrophy in children. Males are generally the only ones afflicted with the disease, however, it is females who carry the defective gene and will have a 50% chance of passing it on to her children. If a male child is affected he will usually show signs of the disease no later than seven or eight years old and will likely require the use of a wheelchair by the age of 12. Like BMD, there is weakening and wasting of the muscles, starting with those of the lower body. Eventually all muscles including the heart will be affected. There is no cure at this time and survival beyond the age of 30 is rare.

  • Foundation to Eradicate Duchenne: The foundation offers a list of links to websites and organizations that provide research, support and other useful information to patients and their families. The website also includes the latest news, events, and donation opportunities.

  • Parent Project Muscular Dystrophy: A website providing health, research, and care information to parents of children with DMD.

  • University of Maryland Medicine: Provides an explanation of what DMD is and gives signs, symptoms, and a short list of available treatment options.

Distal Muscular Dystrophy (DD)

Perhaps the least severe of the forms of Muscular Dystrophy, DD affects the hands, feet, lower legs, and forearms. There are several different forms of this disorder that are caused by different gene abnormalities. The onset for DD is usually later in life, occurring around the ages of 40 to 60 and is slow progressing. Both men and women are affected by this disease.

  • Muscular Dystrophy Association: A description of DD types, causes and treatments including a diagram of areas normally affected by the disease. Information regarding resources, research and other forms of Muscular Dystrophy, are also available for those who suffer from the disease and their families.

  • Cleveland Clinic: The website is for the non-profit medical center, which provides information on inheritance and treatment methods.

Emery-Dreifuss Muscular Dystrophy (EDMD)

This is a slow progressing form of MD with outward signs developing around the age of 10. Some of the first noticeable indications are stiffness in the heels and difficulty in bending the arms at the elbows. Cardiac problems are quite common and will usually manifest in early adulthood. While the progression of muscle weakness is slow, cardiac problems can be life threatening and often result in treatment with medications or in some cases a pacemaker is required.

  • AARP Health Encyclopedia: A six page, in depth overview of EDMD that covers all basic information on the disease as well as, demographics, autosomal dominant forms, autosomal recessive forms and contractures.

  • Quest Magazine for MDA.org: The online magazine for the muscular dystrophy association provides research updates on EDMD and other forms MD.

Facioscapulohumeral Muscular Dystrophy (FSHD)

FSHD is the third most common form of MD in children and adults. It is characterized by a progressive weakening of the upper body, usually starting with the facial muscles. It is a disorder that affects roughly 5 out of 100,000 people, both men and women. Although those who suffer from FSHD may experience complications such as decreased hearing or mobility, the long term prognosis is generally good.

  • FSH Society: A network consisting of research activists and patients that provides the latest information, advances in research, news, events, and a other relevant resources for patients and scientists.

  • John Hopkins Neurology and Neurosurgery: Information on the diagnosis and treatment of Facioscapulohumeral Muscular Dystrophy.

  • Penn State Hershey Medical Center An encyclopedia entry from Penn State University that reviews the causes, signs, and symptoms of Facioscapulohumeral Muscular Dystrophy.


Limb-Girdle Muscular Dystrophy (LGMD)

LGMD is the name given to 18 different types of Muscular Dystrophy. Persons affected by this disease will first notice muscle weakness of the hips and shoulders. Generally, the abnormal gene which results in LGMD is passed by both the mother and father. There is currently no known cure and treatment is generally the management of symptoms.

Myotonic Muscular Dystrophy (MMD)

MMD is a late-onset form of Muscular Dystrophy, usually occurring as a teenager or adult. There are two types of this disease caused by a repeated section of DNA on one of two chromosomes. Type 1, or MMD1, is a result of a defect in chromosome 19 and is the most common. Type 2, or MMD2, is a result of an abnormal chromosome 3 and is both less common and less severe. Some of the symptoms include weakness, muscle wasting, and delayed muscle relaxation


Oculopharyngeal Muscular Dystrophy (OPMD)

A slow progressing form of Muscular Dystrophy that usually begins in the 40's or 50's. OPMD can be inherited by one or both parents and is caused by a faulty gene which causes the formation of clumps in the muscle cells. The first signs of the disease are a weakness in the throat and the lids of the eyes. There is, at this time, no treatments for the OPMD and management is primarily for the symptoms of drooping eyelids and difficulty swallowing.

  • Muscular Dystrophy Campaign: A fact sheet provided by the Muscular Dystrophy Campaign that also covers common definitions, symptoms, and signs associated with OPMD.

  • University of New Mexico School of Medicine: A review of the regional history, cause, testing and treatment options for Oculopharyneal Muscular Dystrophy. This site also includes links to faculty publications.

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