MYOCLONIC EPILEPSY AND RAGGED RED FIBER DISEASE (MERRF)

Question 1

What is  MYOCLONIC EPILEPSY AND RAGGED RED FIBER DISEASE (MERRF)?

Accepted Answer

rare
mitochondrial
80-90 % heteroplasmic for G->A point mutation of the tRNA gene * diagnosis: mitochondrial DNA analysis in leukocytes muscle biopsy with histochemistry, electron microscopy and immediate isolation of mitochondria

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

MERRF-Syndrom [Myoclonus Epilepsy with Ragged-Red Fibres]

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 545000

Disease	MYOCLONIC EPILEPSY AND RAGGED RED FIBER DISEASE (MERRF)
Synonym	MERRF SYNDROME; FUKUHARA SYNDROME
OMIM	545000 OMIM = Online Mendelian Inheritance of Men
Orphanet	551
ExPASy	---
Gene locus
ICD	G31.81
Summary	rare mitochondrial 80-90 % heteroplasmic for G->A point mutation of the tRNA gene * diagnosis: mitochondrial DNA analysis in leukocytes muscle biopsy with histochemistry, electron microscopy and immediate isolation of mitochondria
Laboratory findings	Growth differentiation factor 15 (GDF15) inc (serum) L-Lactic acid inc (blood) Lactate/Pyruvate ratio inc (blood)
Symptoms	ataxia cardiomyopathy EEG abnormalities [-] Electron microscopy [-] epilepsy headache (severe, recurrent or occipital, migraine) hearing defect, deafness hypertonia, spasticity lactic acidosis mental retardation metabolic acidosis muscle weakness myoclonus myopathy onset, childhood optic atrophy PET (positron emission tomography), abnormal respiratory insufficiency seizures