Number of the records: 1  

MERRF syndróm

  1. Record numberd017243
    Date06.06.2025
    TypeM
    Topical termMERRF syndróm
    Other termEnglish (Pseudonym) Fukuhara Disease
    English (Pseudonym) Myoclonic Epilepsy with Ragged Red Fibers
    Slovak (Pseudonym) Fukuharova choroba
    Slovak (Pseudonym) epilepsia myoklonická s drsnými červenými svalovými vláknami
    UDCC05.651.460.620.530C10.228.140.163.100.545C10.228.140.490.375.130.650.700C10.228.140.490.493.063.650.700C10.668.491.500.500.550C16.320.565.189.545C18.452.132.100.545C18.452.648.189.545C18.452.660.560.620.530
    NoteA mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)
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Number of the records: 1  

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