Marinesco-Sjögren Syndrome (MSS) is a rare genetic disorder that affects multiple parts of the body including the muscles, eyes, and nervous system. It is named after the two doctors who first described it, Dr. Fernand Marinesco and Dr. Bjorn Sjögren in the early 20th century. MSS is caused by mutations in several different genes, but all of these genes are involved in the functioning of important organelles within cells called mitochondria. People with MSS typically experience muscle weakness, difficulty with movement and coordination, decreased vision, and intellectual disability. There is no cure for MSS, and treatment focuses on managing symptoms and providing supportive care. However, recent advances in gene therapy hold promise for new treatments in the future.
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