Rippling muscle disease can be caused by mutations in the CAV3 gene. Muscle conditions caused by CAV3 gene mutations are called caveolinopathies. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells.
Is rippling muscle disease real?
Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch. After the first description in 1975, there have been several publications on this disorder.
Why do I have a painless muscle twitch in my chest?
Painless muscle twitching can be related to a metabolic or electrolyte problem as well as to seizure disorders or other conditions involving the nervous system. Be sure to contact your doctor if you are concerned about your symptoms.
Is rippling muscle disease life expectancy?
In general, RMD is not considered to be fatal. But as of now, there is no cure or viable treatment for RMD beyond pain management.
What is it called when muscles ripple?
Rippling muscle disease (RMD) is a rare condition that primarily affects the muscles. It belongs to a group of conditions known as caveolinopathies. Signs and symptoms of the condition generally begin during late childhood or adolescence, although the age of onset can vary widely.
What type of gene is cherub?
Cherubism is a genetic condition that results from a change or defect in a gene. The gene responsible for cherub syndrome or cherubims is SH3BP2. This gene is present on the fourth chromosome.