Characterization of Familial Myopathy and Paget Disease of Bone
Characterization of Familial Myopathy and Paget Disease of Bone
The researcher wants to explore the genetic causes of muscle disease. The researcher is
 particularly interested in muscle disorders that occur in combination with diseases of bone
 that appear to be passed on from generation to generation.

 Diffuse Optical Spectroscopy will measure the concentrations of blood, water, and lipids
 (fats, for example) in your tissues. This device essentially measures the color of tissues in
 order to determine tissue physiology (its physical and chemical processes).
Diffuse Optical Spectroscopy, the technique is fast and painless and was developed at the
 University of California, Irvine. The Diffuse Optical Spectroscopy instrument is actively
 involved in research studies, but is not yet a part of routine clinical practice. The result
 of this study will aid similar research projects that seek to improve our understanding of
 how tissues work and how alterations in metabolism affect long-term health.

 TheDiffuse Optical Spectroscopy measurement consists of placing a probe onto the surface of
 your body (calf, bicep, or head). This probe will be secured by either gentle hand pressure
 or fastened to your skin using clinically-approved wraps such as Coban/wrap bandages or
 medical adhesive tape and medical glues. Several dots will be made on your skin outlining the
 probe with a surgical felt tip marker. This is so we would be able to put the probe again on
 the same spot in case we needed to interrupt the measurement. The probe looks like a bar code
 scanner in a supermarket and it shines infrared light on your skin. There is no radiation
 involved with this light. In some cases where light signals are low, the optical detector
 will be placed directly onto your skin (but contained within an electronically shielded
 casing, and placed inside another plastic casing). (not offered during pregnancy).
Inclusion Criteria: Male or Female age 18 and older

 -  diagnose of Muscle or bone disorders

 -  with a combination of medical problems including muscle and bone disease and their
 family members.

 Exclusion Criteria:

 -  under 18 year of age

 -  unrelated diagnosis