MERRF
MCID: MYC072
MIFTS: 47
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Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF)
Categories:
Eye diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myoclonic Epilepsy Associated with Ragged-Red Fibers:
Characteristics:Orphanet epidemiological data:58
merrf
Inheritance: Mitochondrial inheritance; Age of onset: Adult,Childhood; HPO:31GeneReviews:24
Penetrance See genotype-phenotype correlations.
Classifications:
MalaCards categories:
Global: Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Muscle diseases
ICD10:
33
Orphanet: 58
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Genetics Home Reference :
25
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.
MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), a loss of sensation in the extremities (peripheral neuropathy), and slow deterioration of intellectual function (dementia). People with this condition may also develop hearing loss or optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. Affected individuals sometimes have short stature and a form of heart disease known as cardiomyopathy. Less commonly, people with MERRF develop fatty tumors, called lipomas, just under the surface of the skin.
MalaCards based summary : Myoclonic Epilepsy Associated with Ragged-Red Fibers, also known as merrf syndrome, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and parkinson disease, mitochondrial. An important gene associated with Myoclonic Epilepsy Associated with Ragged-Red Fibers is MT-TK (Mitochondrially Encoded TRNA-Lys (AAA/G)), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Oxidative phosphorylation. The drugs Coenzyme Q10 and Ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related phenotypes are sensorineural hearing impairment and myopathy NIH Rare Diseases : 52 Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus , which is often the first symptom, followed by generalized epilepsy , ataxia , weakness, and dementia . Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss , short stature , optic atrophy , and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome . The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by mutations in the mitochondrial gene called MT-TK . Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with mutations in these other genes have additional signs and symptoms. Seizures associated with MERRF are generally treated with conventional anticonvulsant therapy. Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function. KEGG : 36 Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF) is a mitochondrial encephalomyopathy characterized by myoclonic seizures, cerebellar ataxia, myopathy, and ragged-red fibers (RRFs) on muscle biopsy. RRFs are muscle fibers with subsarcolemmal mitochondria that stained red with Gomori trichrome stain. The MERRF syndrome is most commonly caused by the A8344G mutation in the mitochondrial tRNA Lys gene. Wikipedia : 74 MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is... more...
More information from OMIM:
545000
GeneReviews:
NBK1520
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Human phenotypes related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:58 31 (show all 18)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:545000 |
Drugs for Myoclonic Epilepsy Associated with Ragged-Red Fibers (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: merrf syndrome |
MalaCards organs/tissues related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:40
Eye,
Brain,
Skin,
Heart,
Skeletal Muscle,
Cerebellum,
Adipocyte
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Articles related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:(show top 50) (show all 196)
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ClinVar genetic disease variations for Myoclonic Epilepsy Associated with Ragged-Red Fibers:6 (show all 13)
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Search
GEO
for disease gene expression data for Myoclonic Epilepsy Associated with Ragged-Red Fibers.
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Cellular components related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:
Biological processes related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:
Molecular functions related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:
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