Oculopharyngeal Muscular Dystrophy (OPMD)

Definition - One of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles.

Cause - A faulty gene for poly(A)-binding protein nuclear 1 (PABPN1), which is suspected to lead to production of extra chemical material that causes formation of clumps in the muscle cells.

Onset - Usually not until the 40s or 50s.

Symptoms - OPMD first causes weakness of the muscles of the eyelids and throat; weakness of facial and limb muscles often occurs later. Swallowing problems and difficulty keeping the eyes open are common problems.

Progression - Slow.

Inheritance - May be autosomal dominant, meaning OPMD is inherited from one parent; or autosomal recessive, occurring when a faulty gene is inherited from each parent.
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Myotonic Dystrophy (MMD) (Also known as Steinert's Disease)

Onset:	Congenital form appears at birth. More common form may begin in teen or adult years.
Symptoms:	Generalized weakness and muscle wasting first affecting the face, lower legs, forearms, hands and neck, with delayed relaxation of muscles after contraction. Other symptoms involve the gastrointestinal system, vision, heart or respiration. Learning disabilities occur in some cases. Congenital myotonic dystrophy is the more severe form.
Progression:	Progression is slow, sometimes spanning 50 to 60 years.
Inheritance:	Autosomal dominant; the disease may be inherited through either the father or the mother.

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Facioscapulohumeral Muscular Dystrophy (FSH or FSHD) (Also known as Landouzy-Dejerine)

Onset:	Usually by age 20.
Symptoms:	Weakness and wasting of the muscles around the eyes and mouth, and of the shoulders, upper arms and lower legs initially, with later weakness of abdominal muscles and sometimes hip muscles.
Progression:	Progresses slowly with some periods of rapid deterioration. Disease may span many decades.
Inheritance:	Autosomal dominant; the disease may be inherited through either the father or mother, or it may occur without a family history.

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Limb-Girdle Muscular Dystrophy (LGMD)

Definition - One of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles.

Cause - A mutation in any of at least 15 different genes that affect proteins necessary for muscle function.

Onset -Childhood to adulthood.

Symptoms - Weakness and wasting first affecting the muscles around the shoulders and hips (limb girdles).

Progression - Usually progresses slowly, with cardiopulmonary complications sometimes occurring in later stages of the disease.

Inheritance - Some types are autosomal dominant, meaning LGMD is inherited from one parent. Other types are autosomal recessive and occur when a faulty gene is inherited from each parent.
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