Kearns-Sayre Syndrome Treatment & Management

Updated: Jul 05, 2019
  • Author: Anna Purna Basu, BMBCh, PhD, MA, NIHR; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Treatment

Medical Care

No disease-modifying therapy is available for Kearns-Sayre syndrome (KSS). Management is supportive vigilance for detection of associated problems. In the future, potential treatment in patients with Kearns-Sayre syndrome may attempt to inhibit mutant mtDNA replication or encourage replication of wild-type mtDNA. [25]

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Surgical Care

In patients with aponeurogenic ptosis, surgical shortening of levator muscles can elevate the eyelid mechanically, but exposure may lead to corneal damage. Surgery to correct ptosis should occur only in centers with specialists in ophthalmic surgical procedures. [26, 27]

Surgical management of cricopharyngeal achalasia (incomplete opening of the upper oesophageal sphincter) may be needed if significant dysphagia is present. [28] Gastrostomy insertion is also an option.

The use of cochlear implants for patients with significant deafness is under investigation. [29]

The aforementioned study by Imamura et al, which involved a case report and literature review, indicated that pacemaker implantation may not by itself be effective enough in curbing sudden death in patients with arrhythmia-associated Kearns-Sayre syndrome, with the investigators recommending implantable cardioverter defibrillators as a means of combatting mortality. They suggested that, while early afterdepolarizations (EADs) linked to bradycardia-associated QT prolongation may be suppressed via pacemakers, delayed afterdepolarizations may produce ventricular arrhythmia even in the presence of EAD suppression. [20]

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Consultations

All patients with Kearns-Sayre syndrome require the care of an ophthalmologist. [30] Consult with a cardiologist regarding pacemaker insertion for heart block. Additional consultations (eg, endocrinologist, neurologist, psychiatrist, neuropsychologist) may be needed, based on the status of the patient and the presence of complications. Genetic counselling is also indicated.

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Diet

Supplementation with coenzyme Q10 may be indicated. Supplementation with folinic acid led to clinical and radiological improvement in a child with incomplete Kearns-Sayre syndrome, cerebral folate deficiency, and leukoencephalopathy. [31]

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Activity

Exercise may help patients with myopathy. Exercise that causes concentric shortening of muscles leads to proliferation of satellite cells, the muscle cell precursors that also are involved in muscle regeneration. Satellite cells contain undetectable levels of mutant mtDNA; if they proliferate, the proportion of wild-type DNA to mutant mtDNA can beneficially increase. [32] Exercising to this extent is difficult for severely affected or young patients.

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