What are the forms of MD? The major forms are mytonic, Duchenne, Becker, limb-girdle, facioscpulohumeral, congenital, oculopharyngeal, distal and Emery-Dreifuss Mytonic dystrophy, which is also known a Steinert's disease is the most common adult form of Muscular Dystrophy. The age of onset is generally early childhood to adulthood. It is inherited in an autosomal dominant manner and it affects both males and females. The muscles first affected are the face, feet, hands and front of neck. It progresses slowly, and causes muscle weakness that affects the central nervous system, heart, gastrointestinal tract, eyes and endocrine glands. Duchenne Muscular Dystrophy is the most common childhood form of MD. The age of onset is generally 2 to 6 years. Between those ages, the signs of Duchenne that usually occur are frequent falling, difficulty getting up from a sitting or lying position and a waddling gait. The manner of inheritance for Duchenne is X-linked and this form affects males. The muscles first affected are the pelvis, upper arm, and upper leg muscles. Progression of Duchenne varies somewhat, however, a wheelchair will be needed by age 12. During the later stages, breathing becomes affected, which leads to severe respiratory infections during the disease's final stages, which usually occur in the late teens or early 20s Becker muscular dystrophy is very similar to Duchenne because they both share defects in the same dystrophin gene and the same dystrophin protein is affected, but with Becker dystrophy, the defects are different so that some working dystrophin is made. Symptoms of Becker dystrophy are similar to Duchenne, but they generally occur later in life and progresses much slower. The age of onset is between 2 to 16 years, but in some cases Becker dystrophy can appear as late as the age of 25. The muscles first affected are the pelvis, upper arm and upper leg muscles. The manner of inheritance for Becker dystrophy is X-linked and it affects males.

Limb-girdle Muscular Dystrophy The onset of limb-girdle muscular dystrophy is in the teens to early adulthood. Muscles first affected are the hips and shoulders. Progression is usually slow, but as it progresses, it includes the arms and legs. Within 20 years of onset, walking becomes difficult, if not impossible.

The manner of inheritance for limb-girdle is both autosomal recessive and dominant and this form affects both male and females.

Facioscapulohumeral Muscular Dystrophy The term facioscapulohumeral refers to the muscles that move the face, scapula (shoulder blade) and humerus (upper arm bone). Facioscapulohumeral dystrophy affects the muscles in the face and shoulder area first. Early signs may include a forward sloping of the shoulders, difficulty raising the arms over the head and closing the eyes. The progression of the weakness is generally slow, but as it spreads, it begins to affect the muscles of the abdomen, feet, upper arms, pelvic area, and lower arms. The disease may also cause impairment of walking, chewing, swallowing and speaking, depending on the severity.

The age of onset for this disease is in the teens to early adulthood, and the manner of inheritance is autosomal dominant and it affects both males and females.

Congenital Muscular Dystrophy is the term used to describe a group of diseases which symptoms can be noted at birth. One of the forms is known as Fukuyama congenital muscular dystrophy, which involves severe weakness of the facial and limb muscles and a lack of muscle tone. This disease usually appears before 9 months. Joint contractures, seizures, brain abnormalities and severe mental and speech problems are most often present due to this disease.

Another form of congenital dystrophy, which has tentatively been named congenital muscular dystrophy with merosin deficiency is a disease which appears to be related to a deficiency of the protien merosin. Merosin normally lies outside muscles cells and links them to surrounding tissue. Symptoms are similar to Fukuyama.

Muscles first affected in both forms of congenital dystrophy are generalized and progression is usually slow. The manner of inheritance for congenital dystrophy is autosomal recessive and it affects both males and females.

Oculopharyngeal Muscular Dystrophy The term oculopharyngeal refers to the eyes and throat. The age of onset for Oculopharyngeal dystrophy is most often in the 40s or 50s and the muscles first affected are the ones around the eye, causing drooping of the eyelids. Symptoms that follow are generally signs of eye and facial muscle weakness, and difficulty swallowing, which in time could lead to choking and recurrent pneumonia. Progression of the disease is slow, but as it progresses symptoms may include weakness in the pelvic and shoulder muscles.

The manner of inheritance for Oculopharyngeal dystrophy is autosomal dominant and it affects males and females.

Distal Muscular Dystrophy is a group of rare muscle diseases which all affect the distal muscles which are the muscles of the forearms, hands, lower legs and feet. Age of onset for this group of diseases is generally adulthood. There are 4 types of distal dystrophies: Welander is inherited in an autosomal dominant manner and affects the hands first.

Both Markesbery-Griggs and Nonaka dystrophy are also inherited in an autosomal dominant manner of inheritance. Both also affect the front and lower legs first.

Miyoshi is inherited in an autosomal recessive manner and affects the back of the lower legs first.

Progression of distal dystrophies is variable, but generally slow. Distal dystrophies also involve fewer muscles and are less severe than other dystrophies. Distal dystrophies also occur in both males and females.

Emery-Dreifuss Muscular Dystrophy is a rare form of MD. The muscles first affected are generally the upper arms and lower legs. This disease's progression is generally slow, but as it progresses, muscles in the chest and pelvic area are most often affected. In the early stages of this disease, contractures involving the ankle and elbow usually appear. Another common part of Emery-Dreifuss dystrophy are life-threatening heart problems.

The age of onset for Emery-Dreifuss is childhood to early teens and the manner of inheritance is X-linked recessive and this form affects males.

The heart problems associated with Emery-Dreifuss can even occur in females who don't have the disease but are carriers. Sisters and mothers of boys with Emery-Dreifuss should be examined.



Disclaimer: This page is an information guide only. This information has been accumulated from research of a variety of Muscular Dystrophy related resources. I offer this information to you with the understanding that it not be interpreted as medical or professional advice. All medical information needs to be carefully reviewed with your health care provider.

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Lesley aka Thomgirl :-)
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