Kearns-Sayre syndrome

What causes Kearns-Sayre syndrome?

Kearns-Sayre syndrome is caused by defects in mitochondria, which are structures within cells that us oxygen to convert the energy from food into a form that can be used by cells. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. People with Kearns-Sayre syndrome have a single, large deletion of mtDNA which results in the loss of genes important for mitochondrial formation and oxydative phosphorylation. While researchers have not determined how these deletions cause the features of Kearns-Sayre syndrome, they may be related to a lack of cellular energy The underlying cause of the deletion in affected individuals remains unknown.

Last updated on 05-01-20

How is Kearns-Sayre syndrome inherited?

Most cases of Kearns-Sayre syndrome are not inherited; they arise from mutations in the body's cells that occur after conception. This alteration, called a somatic mutation, is present only in certain cells. Rarely, this condition is inherited in a mitochondrial pattern. This pattern of inheritance, also known as maternal inheritance, refers to genetic alterations involving mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females. Males that are affected do not pass mitochondrial traits to their children.

Last updated on 05-01-20

Are there hospitals or clinics that specialize in the treatment of Kearns- Sayre syndrome?

While there may not be clinics devoted specifically to Kearns-Sayre syndrome, there may be ways to locate specialists with experience with a range of neuromuscular disorders and/or mitochondrial disorders including Kearns-Sayre syndrome. Support and or advocacy organizations are one way to locate a specialist. Many disease advocacy organizations have medical advisory boards, physician locator services, or patient networks, all of which may help you find a healthcare professional who is familiar with a particular condition. To locate a list of support and or advocacy organizations for Kearns-Sayre syndrome, click here.

Last updated on 05-01-20

My father has Kearns-Sayre syndrome. Am I at-risk to be a carrier?

The children of males with Kearns-Sayre syndrome are not at risk.

Last updated on 05-01-20

What is Kearns-Sayre syndrome?

Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy (a "salt-and- pepper" pigmentation in the retina that can affect vision, but often leaves it intact), and progressive external ophthalmoplegia (PEO). In addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia. Kearns-Sayre syndrome is a mitochondrial DNA (mtDNA) deletion syndrome. It results from abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. This and other mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body, resulting in multisystem effects. Treatment for this slowly progressive disorder is generally symptomatic and supportive.

Last updated on 05-01-20

How might Kearns-Sayre syndrome be treated?

Treatment for Kearns-Sayre syndrome is generally symptomatic and supportive. Management options include placement of cardiac pacemakers in individuals with cardiac conduction blocks, eyelid slings for severe ptosis, cochlear implants and hearing aids for neurosensory hearing loss, hormone replacement for endocrinopathies, dilation of the upper esophageal sphincter to alleviate cricopharyngeal achalasia, folinic acid supplementation in individuals with Kearns-Sayre syndrome with low cerebral spinal fluid folic acid, administration of coenzyme Q10 and L-carnitine, physical and occupational therapy, and treatment of depression. Antioxidants may ameliorate damage from reactive oxygen species; percutaneous endoscopic gastrostomy may improve nutritional intake and prevent aspiration pneumonia in individuals with severe dysphagia. Surveillance includes EKG and echocardiogram every six to 12 months and yearly audiometry and endocrinologic evaluation.

Last updated on 05-01-20

Name: United Mitochondrial Disease Foundation 8085 Saltsburg Road, Suite 201
Pittsburgh, PA, 15239 , United States
Phone: +1-412-793-8077 Toll Free: 1-888-317-8633 Fax : +1-412-793-6477 Email: info@umdf.org Url: https://www.umdf.org
Name: The Mitochondria Research and Medicine Society PO Box 55322
Birmingham, AL,
Phone: 716-907-4349 Fax : 716-845-1047 Email: contact@mitoresearch.org Url: http://www.mitoresearch.org
Name: MitoAction PO Box 51474
Boston, MA, 02205, United States
Phone: 1-888-MITO-411 (648-6411) for support line Toll Free: 1-888-648-6228 Email: info@mitoaction.org Url: https://www.mitoaction.org/
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org

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