Polymerase chain reaction pcr, restriction fragment length polymorphism rflp reference range. In this study cns tissues from a patient with myoclonus epilepsy and ragged red fibers merrf syn drome, which results from an a to g transition of nucleotide. Symptoms usually first appear in childhood or adolescence after normal early development. Myoclonic epilepsy with ragged red fibers merrf 69. Jan 11, 2005 we describe the successful administration of a combined general and epidural anesthesia with sevoflurane maintenance in a patient with myoclonic epilepsy with ragged red fibers merrf syndrome scheduled for surgical treatment of bilateral clubfoot. Anesthetic management of a patient with merrf syndrome. Naini, mitochondrial encephalomy with caution and in association with l.
Merrf syndrome is a predominantly maternally inherited, multisystem mitochondrial disorder caused by pathogenic variants predominantly of the mitochondrial dna mtdna. Pdf merrf syndrome presenting with multiple symmetric. Merrf is a rare panethnic mitochondrial disease which is caused by mutations in the mtdna it mainly affects the muscle tissue and the nervous system onset can range from childhood to adulthood, but typically symptoms show after a normal early development as one ages, symptoms start progressing. A novel mitochondrial trnaphe mutation causes merrf.
Disease bioinformatics research of merrf syndrome has been linked to epilepsy, epilepsies, myoclonic, melas syndrome, mitochondrial diseases, mitochondrial encephalomyopathies. Myoclonic epilepsy with red ragged fibers merrf radiology. Merrf myoclonic epilepsy with ragged red fibers also known as merrf syndrome is an extremely rare mitochondrial disease that comes with a host of complications including myopathy, ataxia, seizures, optic atrophy, and cardiomyopathy. Myoclonus epilepsy usually manifesting earlierthan in our patient, sensorineural hearing loss,premature graying, and rrf on muscle biopsy arefeatures of the merrf syndrome. A condition that can be caused by mutations in more than one mitochondrial gene. Myoclonic epilepsy with ragged red fibers merrf syndrome. From ghr myoclonic epilepsy with raggedred fibers merrf is a disorder that affects many parts of the body, particularly the muscles and nervous system. Clinical features of merrf are not necessarily uniform in the early stages of the.
Merrf syndrome or myoclonic epilepsy with ragged red fibers is a mitochondrial disease. Myoclonic epilepsy with raggedred fibers merrf syndrome is a rare syndromic mitochondrial disorder mid with a broad range of clinical. Myoclonic epilepsy with ragged red fibers genetic and. Myoclonus epilepsy associated with raggedred fibers merrf. If you have problems viewing pdf files, download the latest version of adobe reader. This means it can be viewed across multiple devices, regardless of the underlying operating system. The study of merrf syndrome has been mentioned in research publications which can be found using our bioinformatics tool below. An oversized pdf file can be hard to send through email and may not upload onto certain file managers. There was considerable heterogeneity in the age of onset, severity and associated clinical features. Virtually all patients with typical merrf described to date have had mutations in the trnalys gene. Over the years, the few point mutations in mtdna that have been found in patients with merrf have usually. When should merrf myoclonus epilepsy associated with. Myoclonus epilepsy with raggedred fibers merrf is an inherited mitochondrial disorder characterized by myoclonus epilepsy, ataxia, generalized seizures, and myopathy 1. Management of epilepsy in merrf syndrome sciencedirect.
Request pdf anesthetic management of a patient with merrf syndrome there are several specific considerations regarding anesthesia in patients with mitochondrial disease. Merrf syndrome nord national organization for rare. Detects four mtdna point mutations linked to merrf syndrome typical presentation. Merrf syndrome wikimili, the best wikipedia reader. Van zandijcke, treatment of myoclonus, acta neurol.
Pdf file or convert a pdf file to docx, jpg, or other file format. Jessica feins daughter dalia has the mitochondrial disease merrf syndrome. Mitochondrially transmitted diseases are no exception. Myoclonic epilepsy with ragged red fibers merrf is one of the mitochondrial disorders, characterized by myoclonus often the first symptom followed by generalized epilepsy, ataxia, weakness, and dementia. Onset and extent of symptoms can differ widely from individual to individual and among affected siblings. Myoclonic epilepsy with ragged red fibers merrf free download as powerpoint presentation. Once youve done it, youll be able to easily send the logos you create to clients, make them available for download, or attach them to emails in a fo. By michelle rae uy 24 january 2020 knowing how to combine pdf files isnt reserved. Myoclonic epilepsy with raggedred fibers merrf is a disorder that affects many parts of the body, particularly the muscles and nervous system. Myoclonic epilepsy with ragged red fibers merrf is a mitochondrial multisystem disorder characterized by myoclonus, epilepsy, ataxia, weakness, and dementia. The fraction of mutant mtdna in the woman varied between 62% and 80% in cultured skin fibroblasts, lymphocytes, normal adipose tissue, and muscle, whereas the fraction of mutant mtdna in the lipomas ranged from 90 to 94%. It is a mitochondrial disease mitochondria are cellular structures that produce energy for the cells that causes an individuals muscle cells to appear as ragged red fibers when viewed under a microscope. Neuronal loss was compared in merrf and control tissues in four sections from each paraf.
Searching for a specific type of document on the internet is sometimes like looking for a needle in a haystack. The most frequent seizure type is myoclonic seizures, of which the treatment is challenging and empiric. Myoclonic epilepsy with raggedred fibers merrf syndrome is a rare syndromic. Merrf syndrome wikipedia a rare mitochondrial disease characterized by progressive myoclonic epilepsy and clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fiber and appear as ragged red fibers when stained. Over 80% of individuals with merrf syndrome carry the 8344ag mutation in the lysine transfer rna trna lys gene mttk. A 48yearold man presented with a complexphenotype of myoclonus epilepsy with raggedred fibers merrf syndrome and kearnssayre syndrome kss, whichincluded progressive myoclonus epilepsy, cerebellar ataxia,hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, and raggedred fibers. Jessica spoke with us at the rare disease film festival, an event showcasing a my.
Other mutations have been found in other transfer rna genes or in the mtnd5 gene. Pdf cerebellar ataxia, myoclonus, cervical lipomas, and. Merrf myoclonus epilepsy with raggedred fibers syndrome is an extremely rare disorder that begins in childhood and affects the nervous system and skeletal muscle as well as other body systems. Now merrf may also be considered among the clinical syndromes associated with the a to g transition at nt 3243 of the trnaleuuur. Mar 16, 2016 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. Melas syndrome and merrf syndrome lsu health new orleans. Carre f, hervochon r, foirest c, tankere f eur ann otorhinolaryngol head neck dis 2019 apr. Postmortem studies in 3 patients from the one family showed a particular system degeneration. I paid for a pro membership specifically to enable this feature.
Pharmacotherapeutic management of epilepsy in merrf syndrome. To combine pdf files into a single pdf document is easier than it looks. The a to g transition at nt 3243 of the mitochondrial trnaleu. Muscle biopsy cally proven merrf including cerebellar ataxia, myoclonus, with histochemistry showed both raggedred. The a to g transition at nt 3243 of the mitochondrial. Myoclonic epilepsy with ragged red fiber merrf syndrome is a disease of the mitochondrial encephalomyopathies, characterized by progressive. The most frequent seizure type in merrf is generalis. Mar 30, 2016 myoclonus epilepsy associated with raggedred fibers merrf is a mitochondrial disorder characterized by myoclonus epilepsy, generalized seizures, ataxia and myopathy. Patients with merrf can additionally exhibit recurrent seizures, difficulty coordinating movements, peripheral neuropathy and the slow deterioration. The syndrome is caused by point mutations in the gene of lysine trna at locus 8344 and 8356. Myoclonic epilepsy and ragged red fibers merrf syndrome. Using modified smith criteria, definitive evidence of a merrf genedisease association is identified for mttk. Myoclonus epilepsy associated with raggedred fibers. The diagnosis of merrf is based on clinical symptoms myoclonus, epilepsy, ataxia and raggedred fibers on muscle biopsy 3.
It was first characterized under this name in 1984. Management of epilepsy in merrf syndrome seizure european. A pdf file is a portable document format file, developed by adobe systems. Standardized approaches are used to clarify the definition of merrf, which is essential for. Belongs to a group of rare muscular disorders called mitochondrial encephalomyopathies.
Gucsavascalikoglu, in biomarkers in inborn errors of metabolism, 2017 8. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy. Genetics the mitochondrial gene mttk, which encodes trna lys, is the most commonly affected with an atog transition at nucleotide 8344 80% 3. Control tissues for histology were obtained postmortem from an agematched patient who died from nonneurological causes. Discussing merrf syndrome at the rare disease film. Myoclonic epilepsy with raggedred fibers merrf is a neurological disorder that is characterized by muscle twitches, weakness and progressive stiffness that affects numerous muscles of the body.
Search genetic and rare diseases information center. The signs and symptoms of this disorder appear at an early age, generally childhood or adolescence. Antiepileptic treatment and blood lactate level alteration in patients with myoclonic epilepsy with raggedred fibers merrf syndrome in a chinese family. Myoclonic epilepsy with raggedred fibers merrf syndrome is a rare syndromic mitochondrial disorder mid with a broad phenotypic but narrow genotypic heterogeneity.
Merrf syndrome is caused by mutations in the mitochondrial dna. Full text get a printable copy pdf file of the complete article 1. You can use the tools in paint to add something to a different document. May 04, 2015 after the first patients were diagnosed with merrf in 1973, researchers have been working to understand the pathology and cause of the disease. Impaired ros scavenging system in human induced pluripotent. Myoclonic epilepsy with ragged red fibers genetic and rare.
Full text get a printable copy pdf file of the complete article 997k, or click on a page image below to browse page by page. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. A feature of these diseases is that they are caused by defects in the mitochondrial genome which is inherited purely from the female parent. The merrf syndrome is most commonly the result of a single base pair substitution at position 8344 in the mitochondrial. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes melas is one of the family of mitochondrial diseases, which also include merrf syndrome, and lebers hereditary optic neuropathy. Given the etiologic heterogeneity of disease classification using clinical phenomenology, we employed contemporary criteria to classify variants associated with myoclonic epilepsy with raggedred fibers merrf syndrome and to assess the strength of evidence of genedisease associations.
Selfassessment questions for clinical molecular genetics, 2019. The impact of porcine reproductive and respiratory syndrome virus prrsv genotypes, established on the basis of orf5 nucleotide sequences, on three production parameters in ontario sow. Chang jc, liu kh, li yc, kou sj, wei yh, chuang cs, hsieh m, liu cs. The paint program can help you make new image files, but it cannot open document or pdf file. The g8363a point mutation appears to be related to the presence of cardiomyopathy and deafness in patients with merrf, and, in some cases, it overlap with leigh syndrome15,18,19,20. Apr 04, 2018 treatment of human cells derived from merrf syndrome by peptidemediated mitochondrial delivery. In this study cns tissues from a patient with myoclonus epilepsy and ragged red fibers merrf syndrome, which results from an a to g transition of nucleotide nt 8344 in the mitochondrial trnalys gene, were examined for the proportion of.
Patients exhibit myoclonus epilepsy involuntary muscle contractions and show signs of raggedred fibers in muscle biopsy. Myoclonic epilepsy with raggedred fibers medlineplus. It is extremely rare, with an estimated prevalence of 1400,000 in europe, and has varying degrees of expressivity owing to heteroplasmy. These findings suggest that trnalys alterations may play a specific role in the pathogenesis of merrf syndrome. Merrf syndrome myoclonic epilepsy with ragged red fibres presenting with cervicothoracic lipomatosis. The distinguishing feature in merrf is myoclonus, consisting of sudden, brief, jerking spasms that can affect the arms and legs or the entire body. Read on to find out just how to combine multiple pdf files on macos and windows 10. As a result of mutation 8344, aminoacylation of trna decreases to 3550%, its content decreases and premature termination of translation on mitochondrial ribosomes occurs. A new mtdna mutation in the trnalys gene associated with. Depending on the type of scanner you have, you might only be able to scan one page of a document at a time. This article explains what pdfs are, how to open one, all the different ways. A novel mitochondrial trnaphe mutation causes merrf syndrome.
For language access assistance, contact the ncats public information officer. Its estimated prevalence is about 1400,000 in northern europe, although its prevalence in asia is not established 2. Onset is in childhood, after normal early development. Acronym for m yoclonus e pilepsy with r agged r ed f ibers. Mutations in the mtdna genes mtth, mtts1, mtts2, cause melas merrf overlap syndrome. Myoclonic epilepsy with ragged red fibers merrf is another multisystemic mitochondrial disorder, so named because of the canonical features of myoclonus, epilepsy, ataxia, and ragged red fibers on muscle biopsy. Pdf is a hugely popular format for documents simply because it is independent of the hardware or application used to create that file. If your scanner saves files as pdf portbale document format files, the potential exists to merge the individual files into one doc. Merrf syndrome online mendelian inheritance in man. If your pdf reader is displaying an error instead of opening a pdf file, chances are that the file is c. Selective vulnerability of subpopulations of neurons is a striking feature of neurodegeneration. Discussing merrf syndrome at the rare disease film festival. Specically, the patient appeared to have an overlap syndrome with features of both merrf and kss.
The features of merrf vary widely among affected individuals, even among members of the same family. Thirteen patients, including 6 from one family, with the syndrome of myoclonus epilepsy and raggedred fibres merrf were studied. Merrf syndrome nord national organization for rare disorders. Although merrf is phenotypically and genotypically heterogeneous, myoclonic epilepsy is the clinical feature that distinguishes merrf from other categories of mitochondrial disorders. Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations of mitochondrial dna mtdna.
One of the fun things about computers is playing with programs like paint. However, general recommendations for the treatment of mitochondrial. Acronym for myoclonus epilepsy with raggedred fibers. The causes of merrf syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear dna or mitochondrial dna. The winnower myoclonic epilepsy with raggedred fibers merrf. Nov 20, 2017 merrf is a progressive multisystem syndrome with symptoms that begin during childhood, but onset may occur in adulthood. In 80% of cases, merrf is caused by a single base pair mutation a changes to g in mitochondrial dna mtdna, at location 8344.
Functional recovery of human cells harbouring the mitochondrial dna mutation merrf a8344g via peptidemediated mitochondrial delivery. Merrf syndrome is a genetic disorder that affects the nervous system, skeletal muscles, and various other body systems. This mutation is nonspecific, it can be determined with other forms of damage to the. Unverricht lundborg disease uld, myoclonic epilepsy with raggedred fiber merrf syndrome, lafora body disease lbd the major causes are pme of the unverrichtlundborg type, lafora disease, neuronal ceroid lipofuscinoses three forms, merrf myoclonus epilepsy and ragged red. Making a pdf file of a logo is surprisingly easy and is essential for most web designers. Myoclonic epilepsy with ragged red fibers merrf is one of the mitochondrial disorders, characterized by. The most characteristic symptom is myoclonic seizures that are usually sudden, brief, jerking spasms that can affect the limbs or the entire body. Merrf must be considered in the differential diagnosis of progressive myoclonus epilepsies, including ramsay hunt syndrome and unverrichtlundborg disease, in which cerebellar signs are prominent berkovic et al. It is characterized by myoclonic epilepsy and raggedred fibers present on muscle biopsy. Nov 19, 2014 her son, who also carried the mutation, had merrf syndrome. 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. Frontiers molecular diagnosis of myoclonus epilepsy.
Standardized approaches are used to clarify the definition of merrf, which is essential for patient diagnosis, patient classification, and clinical trial design. Merrf syndrome affects different parts of the body, particularly the muscles and nervous system. Most electronic documents such as software manuals, hardware manuals and ebooks come in the pdf portable document format file format. Features may include myoclonus, ataxia, weakness, seizures, hearing loss and ragged red fibers. Regionalized pathology correlates with augmentation of mtdna. Luckily, there are lots of free and paid tools that can compress a pdf file in just a few easy steps. Merrf is primarily an mttk disease, with pathogenic variants in this gene accounting for 90% of merrf patients. May 05, 2010 merrf myoclonus epilepsy with raggedred fibers syndrome is an extremely rare disorder that begins in childhood and affects the nervous system and skeletal muscle as well as other body systems. One of the predominant phenotypic features in addition to myopathy is epilepsy. They may be associated with merrf melas overlap syndrome, in which affected. When should merrf myoclonus epilepsy associated with ragged. Introduction mitochondria are membranebound organelles present in all nucleated eukaryotic cells. The characteristic myoclonic seizure in merrf may help to narrow diagnosis, but genetic testing should be considered to distinguish the 2 conditions.
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