View clinical trials related to Melorheostosis.
Filter by:Background: - The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses. Objective: -To see what happens to people with melorheostosis over time and understand the causes of the disease. Eligibility: - People 18 and over with melorheostosis. - Their unaffected relatives. Design: - All participants will have a medical history and physical exam. - Participants who are relatives will give samples of blood or cheek cells. - Other participants will be in the study for about 1 week. - They will have blood and urine collected. - Strength, walking, and range of motion will be measured. - Participants may also have - X-rays and scans. - A pain and neurological evaluation. - Their skin evaluated by a dermatologist. - A small sample of bone taken. - Nerve conduction studies. Small electrodes with to wires will be put on the skin. A metal probe will give a small electrical shock. - Electromyography. A thin needle will be placed into the muscles. - An ultrasound, which uses sound waves to examine the muscles and nerves. An ultrasound probe will be placed over the skin. - A bone scan. They will get a small amount of radioactive fluid through a needle in an arm vein. This fluid travels to the bones. The bones will be photographed in a machine. - Bone Densitometry, a low-level x-ray. - Photographs taken. - A small circle of skin removed with a surgical instrument. - Questionnaires about their quality of life. - Participants will be asked to return about every 2 years. At these visits, participants may have blood and urine tests and x-rays.
This study offers evaluation and treatment of patients with a suspected connective tissue disorder. The protocol is not designed to test new treatments; rather, patients receive standard care. The study is designed to: 1) allow NICHD's staff to learn more about connective tissue disorders, 2) train physicians in the evaluation and treatment of these disorders; and 3) establish a pool of patients who may be eligible for other NICHD protocols for connective tissue disorders. (Participants in this protocol will not be required to join another study; the decision will be voluntary.) Patients of all ages with a suspected connective tissue disorder and their unaffected family members may be eligible for this study. Participants undergo diagnostic procedures that may include a medical history, physical examination, X-ray studies, eye examinations, and blood drawing, as well as other specialized tests, when needed. Additional tests may include: - Blood test for DNA genetic analysis - Skin biopsy: Removal of a small piece of tissue for microscopic examination. The area of skin selected for the biopsy is numbed and a small circle of skin, usually from the upper arm, is removed with a surgical cookie cutter-like instrument. - Magnetic resonance imaging (MRI): This test uses a strong magnetic field and radio waves to show structural and chemical changes in tissues. The patient lies on a table that slides into a narrow cylinder containing a magnetic field. Ear plugs are worn to muffle loud knocking and thumping sounds that occur with electrical switching of the magnetic fields. - Computed tomography (CT) scans: This test allows the doctor to view the organs inside the body in small sections. The patient lies in a doughnut-like machine. Scanning can be done from different angles, allowing a three dimensional picture of the part of the body being studied. It may be done with or without injection of a contrast material. - Referral to appropriate sub-specialists when potential complications are found.