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Marinesco-Sjogren syndrome
Thursday, 19 August 2004
Thursday, 19 August 2004
Marinesco-Garland syndrome

What

Marinesco-Sjogren syndrome (MSS) is a very rare genetic disorder that is characterized by problems with balance and coordinating movements, decreased muscle tone, cataracts in the eyes, mental retardation, short stature, and growth delay.

Who

There have only been about 100 cases of Marinesco-Sjogren syndrome reported worldwide. MSS occurs in both males and females and in all ethnicities.

Signs and Symptoms

Marinesco-Sjogren syndrome commonly causes ataxia and hypotonia. Ataxia is a problem with balance and coordinating movements of the body. Hypotonia means that there is decreased muscle tone. Sometimes this is described as a feeling of floppiness of the body. Hypotonia can be present at birth and is often the first symptom that is noticed. The child may have problems reaching motor milestones like turning over, sitting, crawling, and walking due to the ataxia, hypotonia and muscle weakness. Since the muscles used for talking can also be affected, individuals with MSS may also have difficulties with speech. MSS can also cause;

  • Mild to moderate learning problems
  • Problems with growth (both height and weight)
  • Clouding of the lenses of the eye during childhood (juvenile cataracts), which affects vision.
  • Abnormal movements of the eyes
  • Abnormalities of the bones
  • Abnormalities of the reproductive organs (hypogonadism). As the child grows older, this can cause problems with puberty.

Possible Causes

The specific gene or genes that causes Marinesco-Sjogren syndrome has not been identified yet, but this disorder is known to be inherited in an autosomal recessive manner. This means that an affected child inherited two altered copies of the gene involved, one from each parent. Every person is born with two copies of a gene, one inherited from each parent. In order to have Marinesco-Sjogren syndrome, a child must inherit two copies of the responsible gene with a change (mutation). If a child only has one copy of the gene with a change, then he/she will not be affected, but is called a carrier. If both parents have one copy of the gene with a change (both parents are carriers), then there is a 25% chance that each of their children will have Marinesco-Sjogren syndrome, a 50% chance that the child will be a carrier, and a 25% chance that the child will have no copies with a change.

Diagnosis

Marinesco-Sjogren syndrome is mainly diagnosed based on the signs and symptoms described above. Signs and symptoms like growth delay and hypotonia can be caused by a variety of disorders, so doctors may do many tests to find out which disorder a child has. These tests may include imaging studies (like CT scans and MRIs) of the brain; blood and urine tests; taking biopsies of muscle tissue; and tests to check the function of the muscles and nerves.

Treatment

An individual with Marinesco-Sjogren syndrome will usually have a team of specialists. This team may include the primary care doctor who will regularly follow growth and monitor for learning problems, a geneticist, a neurologist who can help with the ataxia and hypotonia, an ophthalmologist to help treat the cataracts, and an endocrinologist to help with growth and reproductive problems. In addition, early educational intervention and speech therapy may also be helpful. Physical and occupational therapy can help with strengthening the body and performing daily activities. Doctors may recommend walkers, leg braces, or other aids for problems with walking and balance.

Prognosis

Individuals with MSS generally have a normal lifespan. As the individuals reach adulthood, they usually have to continue using walking aids because of the ataxia and muscle weakness.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Marinesco-Sjogren Syndrome Support Group
Phone: (805) 499-7410  This is a great website made by families with MSS. It provides useful, parent-friendly educational information as well as support groups and links to other resources. Apraxia Kids http://www.apraxia-kids.org This website includes a lot of useful information on speech disorders under the FAQ section.

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Phone: (877) 226-4267  Nice website full of information, current research, news articles and also can be accessed in Spanish.

Google Search for Marinesco-Sjogren syndrome

References and Sources

www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248800 www.orpha.net/static/GB/marinescosjogren_syndrome.html www.diseasesdatabase.com/ddb31430.htm www.medterms.com/script/main/art.asp?articlekey=18034 www.ajnr.org/cgi/content/abstract/19/2/281 www.neurology.org/cgi/content/abstract/58/2/231 www.neurology.org/cgi/content/abstract/35/3/415