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Emery-Dreifuss Syndrome
Sunday, 25 January 2004
Sunday, 28 November 2004

What

Emery-Dreifuss Syndrome is a rare congenital disorder causing muscle weakness. Children with this disorder lack one of two proteins, either emerin or lamin A/C; without these proteins, muscle cells fail to grow correctly. Joints become stiff, muscles become weak and the heart is usually affected.

Who

Emery-Dreifuss Syndrome affects boys slightly more often than girls. It is very rare, with only 1 in 100,000 people known to have the disorder around the world. It is passed on to children from their parents in one of two patterns, either X-linked inheritance or autosomal dominant inheritance. It can also happen without warning in children of families who have never had the disorder; this is called a spontaneous mutation.

Signs and Symptoms

Children with Emery-Dreifuss Syndrome are usually diagnosed in childhood or their teenage years. The following symptoms are most often present: 1. Decreased joint movements (contractures) at the elbow, ankle and neck 2. Muscle weakness 3. Decreased muscle size (atrophy), especially in the calves 4. Walking only on one’s toes 5. Rigid spine 6. Slow heart rate

Possible Causes

The cause of Emery-Dreifuss Syndrome is unknown at this time. Researchers are currently studying the genes that are responsible for proper production or functioning of the proteins emerin or lamin A/C.

Diagnosis

Diagnosis of Emery-Dreifuss Syndrome is made with two tests. The first is called electromyography (EMG), in which a small needle is used to stimulate a muscle and watch its electrical activity. The second test involves removing a small piece of muscle to examine under a microscope; this is called a biopsy. An electrocardiogram (EKG) may also be performed to determine how your child’s heart is affected.

Treatment

Treatment for Emery-Dreifuss Syndrome focuses on symptomatic relief, supportive care and prevention of complications. Children benefit from physical therapy to maintain or increase their joint movements. They may require surgeries to release joint contractures. Because Emery-Dreifuss Syndrome affects the heart muscle, these children may also need a pacemaker.

Prognosis

With appropriate treatment, children with Emery-Dreifuss Syndrome are expected to grow into adulthood. The greatest risk is the potential for abnormal heart rhythms. With careful monitoring and the possible use of a pacemaker, sudden death may be prevented.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Emedicine
This is a very comprehensive article on ED with many technical terms.

Muscular Dystrophy Association
This website is a partnership between concerned citizens and scientists. This site provides brief disease descriptions, information in Spanish, articles for parents, chat rooms and a special ask the experts feature.

Google Search for Emery-Dreifuss Syndrome

References and Sources

1. DiMauro S, Hays AP, Borilla E (1996). Hereditary myopathies. In: Rudolph AM. Hoffman JIE, Rudolph CD (eds) Rudolph’s Pediatrics, 20th ed, Appleton & Lange, p 1980. 2. Mathews K (2003) Muscular Dystrophy Overview: Genetics and Diagnosis, Neurology Clinics, 21(4); 795 3. Sarnat HB (2000) Muscular dystrophies. In: Behrman RE, Kliegman RM, Jenson HB (eds), Nelson Textbook of Pediatrics, 16th ed, WB Saunders, p 1877-78