MeSH Browser

MeSH Heading: MERRF Syndrome
Tree Number(s): C05.651.460.620.530; C10.228.140.163.100.545; C10.228.140.490.375.130.650.700; C10.228.140.490.493.063.650.700; C10.668.491.500.500.550; C16.320.565.189.545; C18.452.132.100.545; C18.452.648.189.545; C18.452.660.560.620.530
Unique ID: D017243
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D017243
Scope Note: 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)
Entry Term(s): Fukuhara Disease; Fukuhara Syndrome; MERRF; Myoclonic Epilepsy Associated with Ragged-Red Fibers; Myoclonic Epilepsy and Ragged Red Fibers; Myoclonic Epilepsy with Ragged Red Fibers; Myoclonic Epilepsy with Ragged-Red Fibers; Myoclonus with Epilepsy with Ragged Red Fibers; Myoencephalopathy Ragged-Red Fiber Disease
Previous Indexing: Epilepsy, Myoclonic (1980-1992); Mitochondria, Muscle (1980-1992)
Public MeSH Note: 1993
History Note: 1993
Date Established: 1993/01/01
Date of Entry: 1992/05/22
Revision Date: 2017/02/24

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Musculoskeletal Diseases [C05]
- Muscular Diseases [C05.651]
  - Mitochondrial Myopathies [C05.651.460]
    - Mitochondrial Encephalomyopathies [C05.651.460.620]
      - MELAS Syndrome [C05.651.460.620.520]
      - MERRF Syndrome [C05.651.460.620.530]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Epilepsy [C10.228.140.490]
      - Epilepsy, Generalized [C10.228.140.490.375]
        
        Epilepsies, Myoclonic [C10.228.140.490.375.130]
        
        Myoclonic Epilepsies, Progressive [C10.228.140.490.375.130.650]
        
        Lafora Disease [C10.228.140.490.375.130.650.500]
        
        MERRF Syndrome [C10.228.140.490.375.130.650.700]
        
        Unverricht-Lundborg Syndrome [C10.228.140.490.375.130.650.900]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Epilepsy [C10.228.140.490]
      - Epileptic Syndromes [C10.228.140.490.493]
        
        Epilepsies, Myoclonic [C10.228.140.490.493.063]
        
        Myoclonic Epilepsies, Progressive [C10.228.140.490.493.063.650]
        
        Lafora Disease [C10.228.140.490.493.063.650.500]
        
        MERRF Syndrome [C10.228.140.490.493.063.650.700]
        
        Unverricht-Lundborg Syndrome [C10.228.140.490.493.063.650.900]

Nervous System Diseases [C10]
- Neuromuscular Diseases [C10.668]
  - Muscular Diseases [C10.668.491]
    - Mitochondrial Myopathies [C10.668.491.500]
      - Mitochondrial Encephalomyopathies [C10.668.491.500.500]
        
        MELAS Syndrome [C10.668.491.500.500.500]
        
        MERRF Syndrome [C10.668.491.500.500.550]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Mitochondrial Diseases [C18.452.660]
    - Mitochondrial Myopathies [C18.452.660.560]
      - Mitochondrial Encephalomyopathies [C18.452.660.560.620]
        
        MELAS Syndrome [C18.452.660.560.620.520]
        
        MERRF Syndrome [C18.452.660.560.620.530]

MERRF Syndrome Preferred

Concept UI: M0026164
Scope Note: 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)
Terms: MERRF Syndrome Preferred Term
Term UI T051405
Date01/01/1999
LexicalTag ACX
ThesaurusID; Myoclonic Epilepsy with Ragged Red Fibers
Term UI T369455
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Fukuhara Syndrome
Term UI T369456
Date11/03/1999
LexicalTag EPO
ThesaurusID; Myoclonic Epilepsy and Ragged Red Fibers
Term UI T369457
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Myoclonus with Epilepsy with Ragged Red Fibers
Term UI T751061
Date05/13/2009
LexicalTag NON
ThesaurusID; Myoencephalopathy Ragged-Red Fiber Disease
Term UI T751062
Date05/13/2009
LexicalTag NON
ThesaurusID; Myoclonic Epilepsy Associated with Ragged-Red Fibers
Term UI T781492
Date12/01/2010
LexicalTag NON
ThesaurusID; Myoclonic Epilepsy with Ragged-Red Fibers
Term UI T842097
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Fukuhara Disease
Term UI T051404
Date12/19/1991
LexicalTag EPO
ThesaurusID; MERRF
Term UI T844175
Date05/15/2013
LexicalTag NON
ThesaurusID GHR (2014)

MERRF Syndrome MeSH Descriptor Data 2025