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Myoclonus with epilepsy with ragged red fibers(MERRF)

MedGen UID:
56486
Concept ID:
C0162672
Disease or Syndrome
Synonyms: Myoclonus with epilepsy with ragged red fibers; Fukuhara Disease; Fukuhara syndrome; MERRF; Merrf syndrome; Myoclonic epilepsy associated with ragged-red fibers; myoclonic epilepsy with ragged-red fibers; Myoencephalopathy ragged-red fiber disease
Modes of inheritance:
Mitochondrial inheritance
MedGen UID:
504838
Concept ID:
CN001305
Finding
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
SNOMED CT: Myoclonus epilepsy AND ragged red fibers (68448003); MERRF (68448003); MERRF - Myoclonic epilepsy - ragged red fibers (230426003); Myoclonic epilepsy - ragged red fibers (230426003); Fukuhara syndrome (57254004)
 
Genes: TRNP; TRNK; TRNF
OMIM®: 545000
Orphanet: ORPHA551

Definition

A 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) [from MeSH]

Additional descriptions

From GeneReviews
MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Onset is usually in childhood, occurring after normal early development. Common findings are hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. Occasionally pigmentary retinopathy and lipomatosis are observed.  http://www.ncbi.nlm.nih.gov/books/NBK1520
From GHR
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.  http://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-with-ragged-red-fibers

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Multiple lipomas
MedGen UID:
504685
Concept ID:
CN000948
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Incoordination
MedGen UID:
351047
Concept ID:
C1864113
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Myoclonus
MedGen UID:
504806
Concept ID:
CN001224
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Generalized myoclonic seizures
MedGen UID:
505115
Concept ID:
CN001923
Finding
Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal).
Abnormality of movement
MedGen UID:
506445
Concept ID:
CN116921
Finding
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Increased serum lactate
MedGen UID:
332209
Concept ID:
C1836440
Finding
Increased serum pyruvate
MedGen UID:
376596
Concept ID:
C1849488
Finding
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A reduction in the strength of one or more muscles.
EMG abnormality
MedGen UID:
99199
Concept ID:
C0476403
Finding
Ragged-red muscle fibers
MedGen UID:
477048
Concept ID:
C3275417
Finding
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Multiple lipomas
MedGen UID:
504685
Concept ID:
CN000948
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGMyoclonus with epilepsy with ragged red fibers

Recent clinical studies

Etiology

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G
Neurology 2013 May 28;80(22):2049-54. Epub 2013 May 1 doi: 10.1212/WNL.0b013e318294b44c. [Epub ahead of print] PMID: 23635963
Cohen BH
Neurotherapeutics 2013 Apr;10(2):227-42. doi: 10.1007/s13311-013-0188-3. PMID: 23549648Free PMC Article
Bindoff LA, Engelsen BA
Epilepsia 2012 Sep;53 Suppl 4:92-7. doi: 10.1111/j.1528-1167.2012.03618.x. PMID: 22946726
Fang W, Huang CC, Chu NS, Lee CC, Chen RS, Pang CY, Shih KD, Wei YH
Muscle Nerve 1994 Jan;17(1):52-7. doi: 10.1002/mus.880170107. PMID: 8264702
Holme E, Larsson NG, Oldfors A, Tulinius M, Sahlin P, Stenman G
Am J Hum Genet 1993 Mar;52(3):551-6. PMID: 8447321Free PMC Article

Diagnosis

Cohen BH
Neurotherapeutics 2013 Apr;10(2):227-42. doi: 10.1007/s13311-013-0188-3. PMID: 23549648Free PMC Article
Emmanuele V, Silvers DS, Sotiriou E, Tanji K, DiMauro S, Hirano M
Muscle Nerve 2011 Sep;44(3):448-51. doi: 10.1002/mus.22149. PMID: 21996807Free PMC Article
Kobayashi J, Nagao M, Miyamoto K, Matsubara S
Intern Med 2010;49(5):479-82. Epub 2010 Mar 1 PMID: 20190488
Orcesi S, Gorni K, Termine C, Uggetti C, Veggiotti P, Carrara F, Zeviani M, Berardinelli A, Lanzi G
J Child Neurol 2006 Jan;21(1):79-82. PMID: 16551460
Szuhai K, Ouweland J, Dirks R, Lemaître M, Truffert J, Janssen G, Tanke H, Holme E, Maassen J, Raap A
Nucleic Acids Res 2001 Feb 1;29(3):E13. PMID: 11160915Free PMC Article

Therapy

Yorns WR Jr, Hardison HH
Semin Pediatr Neurol 2013 Sep;20(3):188-93. doi: 10.1016/j.spen.2013.09.002. PMID: 24331360
Chang JC, Liu KH, Chuang CS, Su HL, Wei YH, Kuo SJ, Liu CS
Cytotherapy 2013 Dec;15(12):1580-96. doi: 10.1016/j.jcyt.2013.06.008. PMID: 24199594
Bindoff LA, Engelsen BA
Epilepsia 2012 Sep;53 Suppl 4:92-7. doi: 10.1111/j.1528-1167.2012.03618.x. PMID: 22946726
Mancuso M, Petrozzi L, Filosto M, Nesti C, Rocchi A, Choub A, Pistolesi S, Massetani R, Fontanini G, Siciliano G
Biochem Biophys Res Commun 2007 Mar 23;354(4):1058-60. Epub 2007 Jan 26 doi: 10.1016/j.bbrc.2007.01.099. [Epub ahead of print] PMID: 17275787
Mancuso M, Galli R, Pizzanelli C, Filosto M, Siciliano G, Murri L
J Neurol Sci 2006 Apr 15;243(1-2):97-9. Epub 2006 Jan 18 doi: 10.1016/j.jns.2005.11.021. [Epub ahead of print] PMID: 16414077

Prognosis

Monden Y, Mori M, Kuwajima M, Goto T, Yamagata T, Momoi MY
Brain Dev 2013 Jun;35(6):582-5. Epub 2012 Sep 13 doi: 10.1016/j.braindev.2012.08.006. [Epub ahead of print] PMID: 22981260
Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H
J Med Genet 2010 Oct;47(10):659-64. Epub 2010 Jul 7 doi: 10.1136/jmg.2009.072058. [Epub ahead of print] PMID: 20610441
Seo HE, Hwang SK, Choe BH, Cho MH, Park SP, Kwon S
J Korean Med Sci 2010 Mar;25(3):449-53. Epub 2010 Feb 17 doi: 10.3346/jkms.2010.25.3.449. PMID: 20191046Free PMC Article
Ohtsuka Y, Amano R, Oka E, Ohtahara S
J Child Neurol 1993 Oct;8(4):366-72. PMID: 8228033
Byrne E, Trounce I, Marzuki S, Dennett X, Berkovic SF, Davis S, Tanaka M, Ozawa T
Acta Neuropathol 1991;81(3):318-23. PMID: 1905454

Clinical prediction guides

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G
Neurology 2013 May 28;80(22):2049-54. Epub 2013 May 1 doi: 10.1212/WNL.0b013e318294b44c. [Epub ahead of print] PMID: 23635963
Chang JC, Liu KH, Li YC, Kou SJ, Wei YH, Chuang CS, Hsieh M, Liu CS
Neurosignals 2013;21(3-4):160-73. Epub 2012 Sep 21 doi: 10.1159/000341981. [Epub ahead of print] PMID: 23006856
Chen HF, Chen CY, Lin TH, Huang ZW, Chi TH, Ma YS, Wu SB, Wei YH, Hsieh M
FEBS J 2012 Aug;279(16):2987-3001. Epub 2012 Jul 23 doi: 10.1111/j.1742-4658.2012.08678.x. [Epub ahead of print] PMID: 22742457
Rommelaere G, Michel S, Malaisse J, Charlier S, Arnould T, Renard P
Int J Biochem Cell Biol 2012 Jan;44(1):139-49. Epub 2011 Oct 22 doi: 10.1016/j.biocel.2011.10.009. [Epub ahead of print] PMID: 22037425
Byrne E, Trounce I, Marzuki S, Dennett X, Berkovic SF, Davis S, Tanaka M, Ozawa T
Acta Neuropathol 1991;81(3):318-23. PMID: 1905454

Recent systematic reviews

Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP
J Neurol Sci 2009 Jun 15;281(1-2):85-92. Epub 2009 Mar 10 doi: 10.1016/j.jns.2009.01.025. [Epub ahead of print] PMID: 19278689
Campanella G, Filla A, De Michele G
Acta Neurol (Napoli) 1992 Aug-Dec;14(4-6):408-19. PMID: 1293984

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