An Introduction to Muscular Dystrophy :: Muscular Dystrophy Foundation Nepal

An Introduction to Muscular Dystrophy

Muscular Dystrophies are defined as a group of human genetic disorders characterized by progressive muscle wasting and weakening and microscopic changes in the muscle. It is the disease that affects the muscles of an individual. Muscular dystrophies are part of a larger group of disorders known as Myopathy.

The primary problem with Myopathy including muscular dystrophies, basically concentrates in the muscles not in the nerves that control them, the blood vessels that supply them or the bones that support them. This distinguishes dystrophies from other various conditions that affect muscles.

Muscular Dystrophy (MD) causes muscles to get weaker and weaker. Later on they don’t work at all and the patient’s survival became rare within the normal age. The death comes from the Pneumonia, Lung (Respiratory) and Heart complications caused by weakness of the muscles Even our heart is a muscle, and Muscular Dystrophy affects that too. However, our brain is not a muscle so it will not be affected. A continued research activities are on going in developed countries with great initiation as there is no known cure for these muscular or neuromuscular diseases yet.

Types of Muscular Dystrophy and neuromucular disorders:

MYYOPATHIES

Duchenne Muscular Dystrophy (DMD) (Also known as Pseudohypertrophic)
Onset:	Early childhood - about 2 to 6 years.
Symptoms:	Generalized weakness and muscle wasting affecting limb and trunk muscles first. Calves often enlarged.
Progression:	Disease progresses slowly but will affect all voluntary muscles. Survival rare beyond late twenties.
Inheritance:	X-linked recessive (females are carriers).
Becker Muscular Dystrophy (BMD)
Onset:	Adolescence or adulthood.
Symptoms:	Almost identical to Duchenne but often much less severe. Can be significant heart involvements.
Progression:	Slower and more variable than Duchenne with survival well into mid to late adulthood.
Inheritance:	X-linked recessive (females are carriers).
Emery-Dreifuss Muscular Dystrophy (EDMD)
Onset:	Childhood to early teens.
Symptoms:	Weakness and wasting of shoulder, upper arm and shin muscles. Joint deformities are common.
Progression:	Disease usually progresses slowly. Frequent cardiac complications are common.
Inheritance:	X-linked recessive (females are carriers).
Limb-Girdle Muscular Dystrophy (LGMD)
Onset:	Childhood to middle age.
Symptoms:	Weakness and wasting affecting shoulder and pelvic girdles first.
Progression:	Usually progresses slowly with cardiopulmonary complications often occurring in later stages of the disease.
Inheritance:	Autosomal recessive, X-linked recessive.
Facioscapulohumeral Muscular Dystrophy (FSH or FSHD) (Also known as Landouzy-Dejerine)
Onset:	Childhood to early adulthood.
Symptoms:	Facial muscle weakness, with weakness and wasting of the shoulders and upper arms.
Progression:	Progresses slowly with some periods of rapid deterioration. Disease may span many decades.
Inheritance:	Autosomal dominant.
Myotonic Dystrophy (MMD) (Also known as Steinert's Disease)
Onset:	Childhood to middle age.
Symptoms:	Generalized weakness and muscle wasting affecting face, feet, hands and neck first. Delayed relaxation of muscles after contraction. Congenital myotonic form is more severe.
Progression:	Progression is slow, sometimes spanning 50 to 60 years.
Inheritance:	Autosomal dominant.
Oculopharyngeal Muscular Dystrophy (OPMD)
Onset:	Early adulthood to middle age.
Symptoms:	First affects muscles of eyelid and throat.
Progression:	Slow progression with swallowing problems common as disease progresses.
Inheritance:	Autosomal dominant.
Distal Muscular Dystrophy (DD)
Onset:	40-60 years.
Symptoms:	Weakness and wasting of muscles of the hands, forearms and lower legs.
Progression:	Slow progression but not life-threatening.
Inheritance:	Autosomal dominant.
Congenital Muscular Dystrophy (CMD)
Onset:	At birth.
Symptoms:	Generalized muscle weakness with possible joint deformities.
Progression:	Disease progresses very slowly. Fukuyama form is more severe and involves mental functions.
Inheritance:	Autosomal recessive, autosomal dominant.