Emery-Dreifuss muscular dystrophy - Muscular Dystrophy Queensland

Emery-Dreifuss muscular dystrophy (EDMD)

Emery-Dreifuss muscular dystrophy is a genetic, degenerative disease primarily affecting the muscles used for movement. Cardiac function is also commonly affected.

Symptoms often first appear in early childhood and include joint contractures which restrict movement of the neck, ankles and/or elbows. By adulthood, people with EDMD also experience problems with heart function.

The condition was first described by Alan Emery and Fritz Dreifuss in the 1960s.

Emery-Dreifuss muscular dystrophy

Symptoms

Emery-Dreifuss muscular dystrophy is characterised by wasting and weakness of muscles that make up the upper arms, shoulders and calf muscles. Stiffness in the elbows, neck and heels is also common early on in the progression of the disease. By adulthood people with EDMD will experience cardiac abnormalities.

Emery-Dreifuss muscular dystrophy is usually discovered by age 10 and can appear in boys and girls. 

Inheritance patterns in Emery-Dreifuss MD include; X-linked recessive pattern where one of the two sex chromosomes (X and Y) are altered, autosmal dominant and autosomal recessive.

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Useful Resources

Visit The Loop Neuromuscular Resource Hub

The Muscular Dystrophy Association is based in the USA and is a wealth of information for neuromuscular conditions.

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National Organization for Rare Disorders (USA)

National Organization for Rare Disorders (NORD) is based in the USA and is a wealth of information for rare conditions.

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