Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is also known as progressive diaphyseal dysplasia. It is a form of dysplasia. Patients typically have heavily thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness. This disease often appears in childhood and is considered to be inherited, however many patients have no previous history of CED within their family. The disease is slowly progressive and, while there is no cure, there is treatment. It is named for M. Camurati and G. Engelmann. Signs and symptoms
Patients with CED complain of chronic bone pain in the legs or arms, muscle weakness (myopathy) and experience a waddling gait. Other clinical problems associated with the disease include increased fatigue, weakness, muscle spasms, headache, difficulty gaining weight, and delay in puberty. Some patients have an abnormal or absent tibia, may present with a flat foot, or scoliosis.This disease may also cause bones to become abnormally hardened which is referred to as sclerosis. This hardening may affect the bones at the base of the skull or those in the hands, feet, or jaw. This causes ongoing pain and aching within the body parts that are affected.
Notable persons
John Belluso, writer for the CBS television show Ghost Whisperer, used a wheel chair from the age of 13 because of the Camurati–Engelmann syndrome. He died on February 10, 2006, at the age of 36 in New York City. References
Further reading
Camurati-Engelmann disease on Genetic Home Reference
GeneReviews/NCBI/NIH/UW entry on Camurati-Engelmann Disease
Wallace, Stephanie E.; Wilcox, William R. (1 January 1993). Camurati-Engelmann Disease. GeneReviews. University of Washington, Seattle. PMID 20301335. == External links ==