Learn About Marinesco Sjogren Syndrome

What is the definition of 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.

Most people with Marinesco-Sjögren syndrome have mild to moderate intellectual disability. They also have skeletal abnormalities including short stature and a spine that curves to the side (scoliosis). Other features of Marinesco-Sjögren syndrome include eyes that do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and impaired speech (dysarthria).

Affected individuals may have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, puberty is either delayed or absent.

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What are the causes of Marinesco Sjogren Syndrome?

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.

SIL1 gene mutations result in the production of a protein that has little or no activity. A lack of SIL1 protein is thought to impair protein folding, which could disrupt protein transport and cause proteins to accumulate in the endoplasmic reticulum. This accumulation likely damages and destroys cells in many different tissues, leading to ataxia, myopathy, and the other features of Marinesco-Sjögren syndrome.

Approximately one-third of people with Marinesco-Sjögren syndrome do not have identified mutations in the SIL1 gene. In these cases, the cause of the condition is unknown.

How prevalent is Marinesco Sjogren Syndrome?

Marinesco-Sjögren syndrome appears to be a rare condition. More than 100 cases have been reported worldwide.

Is Marinesco Sjogren Syndrome an inherited disorder?

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.

Who are the top Marinesco Sjogren Syndrome Local Doctors?
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Highly rated in
51
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Sorbonne University

Paris, FR 

Alexandra Durr is in Paris, France. Durr is rated as an Elite expert by MediFind in the treatment of Marinesco Sjogren Syndrome. She is also highly rated in 51 other conditions, according to our data. Her top areas of expertise are Acute Cerebellar Ataxia, Cerebellar Degeneration, Harding Ataxia, and Marinesco Sjogren Syndrome.

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Neurology

Spaulding Rehabilitation Hospital Cape Cod

Boston, MA 

Jeremy Schmahmann is a Neurologist in Boston, Massachusetts. Dr. Schmahmann has been practicing medicine for over 42 years and is rated as an Elite doctor by MediFind in the treatment of Marinesco Sjogren Syndrome. He is also highly rated in 51 other conditions, according to our data. His top areas of expertise are Acute Cerebellar Ataxia, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 7, and Spinocerebellar Ataxia Type 3. He is board certified in Neurology and licensed to treat patients in Massachusetts. Dr. Schmahmann is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
49
conditions
Neurology

Westwood - Neurological Services

Los Angeles, CA 

Susan Perlman is a Neurologist in Los Angeles, California. Dr. Perlman has been practicing medicine for over 47 years and is rated as an Elite doctor by MediFind in the treatment of Marinesco Sjogren Syndrome. She is also highly rated in 49 other conditions, according to our data. Her top areas of expertise are Acute Cerebellar Ataxia, Spinocerebellar Ataxia, Friedreich Ataxia, and Drug Induced Dyskinesia. She is board certified in Neurology and licensed to treat patients in California. Dr. Perlman is currently accepting new patients.

What are the latest Marinesco Sjogren Syndrome Clinical Trials?
Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
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A Randomised Controlled Trial on the Clinical Efficacy of Oral Trehalose in Patients With Spinocerebellar Ataxia 3: Clinical & FMRI Correlation
What are the Latest Advances for Marinesco Sjogren Syndrome?
Effect of rovatirelin in patients with cerebellar ataxia: two randomised double-blind placebo-controlled phase 3 trials.
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