GTR Home > Conditions/Phenotypes > Kearns Sayre syndrome

Disease characteristics

Excerpted from the GeneReview: Mitochondrial DNA Deletion Syndromes
Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve in a given individual over time. The three phenotypes are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). Rarely Leigh syndrome can be a manifestation of a mtDNA deletion. KSS is a multisystem disorder defined by the triad of onset before age 20 years, pigmentary retinopathy, and 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. Onset is usually in childhood. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and is usually fatal in infancy. PEO, characterized by ptosis, paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness, is relatively benign.

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Clinical features

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  • Muscle weakness
  • Irregular heart beat
  • Short stature
  • EMG abnormality
  • Increased CSF protein
  • Microcephaly
  • Primary adrenal insufficiency
  • Lactic acidosis
  • Hypoparathyroidism
  • Renal Fanconi syndrome
  • Amyotrophy
  • Abnormal retinal pigmentation
  • Incoordination
  • Seizure
  • Third degree atrioventricular block
  • Ophthalmoparesis
  • Ragged-red muscle fibers
  • Hearing impairment
  • Sensorineural hearing impairment
  • Ptosis
  • Pigmentary retinopathy
  • Progressive external ophthalmoplegia
  • Dementia
  • Sensory neuropathy
  • Diabetes mellitus
  • Anterior hypopituitarism
  • Ataxia
  • Muscular hypotonia
  • Reduced tendon reflexes
  • Cardiomyopathy
  • Sideroblastic anemia
  • Renal tubular acidosis
  • Basal ganglia calcification
  • Delayed skeletal maturation
  • Hemiplegia/hemiparesis
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