Kearns-Sayre Syndrome Kearns-Sayre Syndrome

By Tommy AntonyBy Tommy Antony

Mitochondrial DNAMitochondrial DNA

• Circular DNA

• Encodes for several RNA’s and Proteins

• Mitochondria produces energy for the body

What Is Kearns-Sayre Syndrome What Is Kearns-Sayre Syndrome

• mitochondrial encephalomyopathies

• Sporadic Mutations

• Heteroplasmy occurs

DiagnosisDiagnosis

• Eye muscle paralysis

• Pigment Accumulation

• Heart Disease

• Testing

SymptomsSymptoms

• Usually occur before age 20

• Other symptoms include, skeletal muscle weakness, short stature, hearing loss and deafness, ataxia impaired cognitive function and diabetes.

• Pearson Syndrome

TreatmentTreatment

• No cure

• Cardiac treatments

• Coenzyme Q10

ReferenceReference

• "Kearns Sayre Syndrome." 17 Feb. 2004. 19 Mar. 2006 <http://www.medterms.com/script/main/art.asp?articlekey=30811>.

• McKusick, Victor A., comp. 24 Sept. 1992. John Hopkins U. 19 Mar. 2006 </www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=530000>.

• "Ninds Kearns-Sayre Syndrome Information Page." 24 Jan. 2006. National Institute of Neurological Disorders and Stroke. 19 Mar. 2006 <http://www.ninds.nih.gov/disorders/kearns_sayre/kearns_sayre.htm>.

• Pasternak, Jack J. 2nd ed. Hoboken: John Wiley & Son, Inc, 2005. 358-359.

• Posner, Ewa. "Kearns-Sayre Syndrome." (2005). 19 Mar. 2006 <http://www.emedicine.com/ped/topic2763.htm#section~author_information>.