Progressive Diaphyseal Dysplasia

Bone, Muscle, & Joint

Diseases & Conditions

Contributed byMaulik P. Purohit MD MPHSep 25, 2019

The topic Progressive Diaphyseal Dysplasia you are seeking is a synonym, or alternative name, or is closely related to the medical condition Camurati-Engelmann Disease.

Quick Summary:

Camurati-Engelmann Disease (CED) is a rare, genetic disorder of the bones. It generally affects the long bones of the arms, legs, skull, and hip
The condition is characterized by thickened bones, which cause severe pain in the arms and legs, wobbly walk, weakness of the muscles , severe tiredness, neurological problems, deformities of the joints, and scoliosis
Camurati-Engelmann Disease is caused by mutations in transforming growth factor beta-1 (TGFB1) gene. It is inherited in an autosomal dominant pattern in which one copy of the affected gene is sufficient to cause the abnormality
The various forms of Camurati-Engelmann Disease include:
- Type 1 associated with TGFB1
- Type 2 not associated with TGFB1
This disorder is treated with steroids and alternative therapy methods that include massage and relaxation techniques. The prognosis is generally good with appropriate treatment
Presently, Camurati-Engelmann Disease cannot be effectively prevented

Please find comprehensive information on Camurati-Engelmann Disease regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

On the Article

Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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