198 top medical experts on Neutral Lipid Storage Disease with Myopathy across 11 countries and 2 U.S. states, including 18 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Neutral Lipid Storage Disease with Myopathy: A form of neutral lipid storage disease characterized by adult onset of slowly progressive, typically proximal, muscular weakness of the upper and lower limbs, associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional, variable manifestations include hepatomegaly, diabetes mellitus, and hypertriglyceridemia, among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans' anomaly), as well as massive accumulation of lipid droplets in muscle tissue.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- Foundation for Ichthyosis and Related Skin Types (FIRST)
2616 North Broad Street
Colmar, PA 18915
Toll-free: 1-800-545-3286
Telephone: +1-215-997-9400
E-mail: info@firstskinfoundation.org
Website: http://www.firstskinfoundation.org/
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- Synonyms: Neutral Lipid Storage Disease without Ichthyosis
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