Kearns-Sayre syndrome
MeSH: D007625ORPHA: 480
Overview
spontaneous occuring or inherited mitochondrial myopathy with a typical onset before 20 years of age
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Kearns-Sayre syndrome, sourced from HPO and Orphanet clinical annotations.
Pigmentary retinopathyProgressive external ophthalmoplegiaThird degree atrioventricular blockHearing impairmentPtosisAnterior hypopituitarismAtaxiaHypotoniaReduced tendon reflexesIncreased CSF protein concentrationRagged-red muscle fibersSkeletal muscle atrophyEMG abnormalityProgressive intervertebral space narrowingNeck muscle weaknessDementiaDiabetes mellitusDelayed pubertyHypoparathyroidismMuscle weaknessTremorCardiomyopathyRenal tubular acidosisDysphagiaDelayed skeletal maturationExercise intoleranceShort statureHemiplegia/hemiparesisChronic kidney diseaseCognitive impairment
Classification & Codes
MeSH Code
D007625Orphanet Code
ORPHA:480Kearns-Sayre syndrome
| MeSH | D007625 |
| Orphanet | ORPHA:480 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO