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Kearnsov-Sayreov syndróm

Č. záznamu	d007625
Dátum	06.06.2025
Typ	M
Tematický termín	Kearnsov-Sayreov syndróm
Iný termín	Angličtina (Pseudonym) Kearns Syndrome Slovenčina (Pseudonym) Kearnsov syndróm Slovenčina (Pseudonym) Kearns-Sayreov syndróm
MDT	C05.651.460.700.500C10.292.562.750.250.500C10.597.622.447.511.500C10.668.491.500.700.500C11.590.472.250.500C11.768.585.658.500.627C14.280.238.510C18.452.660.560.700.500C23.550.291.500.688.500C23.888.592.636.447.511.500
Poznámka	A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)

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