Marinesco Sjogren SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Marinesco Sjogren Syndrome
Marinesco-Sjögren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjögren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and difficulty coordinating movements (ataxia), which may impair their ability to walk. People with Marinesco-Sjögren syndrome may experience further decline in muscle function later in life.
Mutations in the SIL1 gene cause Marinesco-Sjögren syndrome. The SIL1 gene provides instructions for producing a protein located in a cell structure called the endoplasmic reticulum. Among its many functions, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape. The SIL1 protein plays a role in the process of protein folding.
Marinesco-Sjögren syndrome appears to be a rare condition. More than 100 cases have been reported worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Ballad Health Medical Associates Neurology
"Shaena Blevins, MD, is a board-certified neurologist who practiced neurology in Gainesville, Georgia, for more than a decade. She loves her patients and, ""the long-term relationships and continuity of care that being a neurologist allows,"" she says. Dr. Blevins feels it is key to listen to her patients and their caregivers. She also believes, ""it is of utmost importance for my patients to understand their disease and treatment options."" Dr. Blevins and her husband are happy to be returning 'home' to the Appalachian Highlands to raise their children around family. Procedures". Dr. Blevins is rated as an Experienced provider by MediFind in the treatment of Marinesco Sjogren Syndrome. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Essential Tremor, Cerebellar Degeneration, Transverse Myelitis, and Memory Loss. Dr. Blevins is board certified in American Board Of Psychiatry & Neurology.
BIDMC Department Of Neurology
Patricia Greenstein is a Neurologist practicing medicine in Boston, Massachusetts. Dr. Greenstein is rated as a Distinguished provider by MediFind in the treatment of Marinesco Sjogren Syndrome. She is also highly rated in 51 other conditions, according to our data. Her clinical expertise encompasses Spinocerebellar Ataxia, Cervical Myelopathy, Behr Syndrome, and Infantile-Onset Spinocerebellar Ataxia (IOSCA). Dr. Greenstein is board certified in American Board Of Psychiatry And Neurology.
Oneonta Family Practice (Fox)
Benjamin Friedell is a primary care provider, practicing in Internal Medicine in Oneonta, New York. Dr. Friedell is rated as an Advanced provider by MediFind in the treatment of Marinesco Sjogren Syndrome. He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Dementia, Epilepsy, Viral Gastroenteritis, and Memory Loss.
Published Date: February 01, 2015
Published By: National Institutes of Health