Engelmann Disease Health Article

Diagnosis

Classic symptoms such as severe leg pain, underdeveloped leg muscles, and a "waddling" gait are often the first indication of the disease. An infant may initially experience feeding problems or failure to thrive (though these are more often the result of other, less serious problems). Imaging procedures such as a CT scan are used to detect the bone abnormalities associated with the condition, which mainly involve the thickening and sclerosis of the long bones of the legs. In some cases, x-ray studies of the skull are necessary. Blood tests and a biopsy of muscle tissue may be recommended.

In diagnosing Engelmann disease, a doctor must distinguish it from other conditions that produce similar symptoms, such as Paget disease and certain types of muscular dystrophy.

Treatment and management

The treatment of Engelmann disease focuses on alleviating symptoms. While the changes in bone associated with the condition cannot be reversed, the use of steroid drugs such as cortisone or prednisone can ease bone pain and strengthen muscle. Surgery to repair muscles or bones is rarely necessary, while procedures to repair nerves in the eye are generally considered ineffective.

Prognosis

While Engelmann disease does not affect life expectancy, the prognosis for the condition varies. Some people affected by the disease are virtually free of symptoms; others are severely disabled. In some cases, the muscle weakness associated with Engelmann diminishes or goes away completely with the passage of time. In other people, the effects of the disease seem to remain the same or slowly worsen during adulthood.

BOOKS

Jones, Kenneth L., ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: W.B. Saunders, 1997.

PERIODICALS

Janssens, K., et al. "Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13." Journal of Medical Genetics 37, no. 4 (2000): 245–9.

Kinoshita, A., T. Saito, H. Tomita, et al. "Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease." Nature Genetics 26, no. 1 (2000): 19–20.

ORGANIZATIONS

National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse. One AMS Circle, Bethesda, MD 20892-3675. (301) 495-4484.

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.

WEBSITES

Genetic Alliance. <http://www.geneticalliance.org>.

National Organization for Rare Disorders (NORD). <http://www.rarediseases.org>.

Greg Annussek