Format

Send to:

Choose Destination

Links from PubMed

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke(MELAS)

MedGen UID:
56485
Concept ID:
C0162671
Disease or Syndrome
Synonyms: MELAS; MELAS, MT-ND1-Related; MELAS, MT-ND5-Related; MELAS, MT-ND6-Related; MELAS, MT-TF-Related; MELAS, MT-TK-Related; MELAS, MT-TL1-Related; MELAS, MT-TQ-Related; MELAS, MT-TS1-Related; MELAS, MT-TS2-Related; Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Modes of inheritance:
Mitochondrial inheritance
MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
Sources: HPO, OMIM, Orphanet
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).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Mitochondrial inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (39925003); MELAS - Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (39925003); Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (39925003); Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (39925003); MELAS (39925003)
 
Genes (locations): MT-CO1; MT-CO2; MT-CO3; MT-CYB; MT-ND1; MT-ND5; MT-ND6; MT-TC; MT-TF; MT-TK; MT-TL1; MT-TQ; MT-TS1; MT-TS2; MT-TV; MT-TW
OMIM®: 540000
Orphanet: ORPHA550

Definition

MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000). [from OMIM]

Additional descriptions

From GeneReviews
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with onset typically in childhood. Early psychomotor development is usually normal, but short stature is common. Onset of symptoms is frequently between the ages of two and ten years. The most common initial symptoms are generalized tonic-clonic seizures, recurrent headaches, anorexia, and recurrent vomiting. Exercise intolerance or proximal limb weakness can be the initial manifestation. Seizures are often associated with stroke-like episodes of transient hemiparesis or cortical blindness. These stroke-like episodes may be associated with altered consciousness and may be recurrent. The cumulative residual effects of the stroke-like episodes gradually impair motor abilities, vision, and mentation, often by adolescence or young adulthood. Sensorineural hearing loss is common.  https://www.ncbi.nlm.nih.gov/books/NBK1233
From GHR
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.  https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes

Clinical features

Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Stroke-like episodes
MedGen UID:
346558
Concept ID:
C1857287
Finding
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. A blood test can show if you have diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Episodic vomiting
MedGen UID:
333228
Concept ID:
C1838993
Finding
Paroxysmal, recurrent episodes of vomiting.
Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.
Ragged-red muscle fibers
MedGen UID:
477048
Concept ID:
C3275417
Finding
An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. A blood test can show if you have diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJuvenile myopathy, encephalopathy, lactic acidosis AND stroke
Follow this link to review classifications for Juvenile myopathy, encephalopathy, lactic acidosis AND stroke in Orphanet.

Professional guidelines

PubMed

Authors/Task Force members., Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H
Eur Heart J 2014 Oct 14;35(39):2733-79. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu284. PMID: 25173338

Recent clinical studies

Etiology

Rodan LH, Poublanc J, Fisher JA, Sobczyk O, Wong T, Hlasny E, Mikulis D, Tein I
Mitochondrion 2015 May;22:66-74. Epub 2015 Mar 21 doi: 10.1016/j.mito.2015.03.002. PMID: 25801712
Potestio CP, Check JH, Mitchell-Williams J
Clin Exp Obstet Gynecol 2014;41(3):343-5. PMID: 24992791
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan.
Biochim Biophys Acta 2012 May;1820(5):619-24. Epub 2011 Apr 2 doi: 10.1016/j.bbagen.2011.03.015. PMID: 21443929
Sproule DM, Kaufmann P
Ann N Y Acad Sci 2008 Oct;1142:133-58. doi: 10.1196/annals.1444.011. PMID: 18990125
Scaglia F, Northrop JL
CNS Drugs 2006;20(6):443-64. PMID: 16734497

Diagnosis

Lee N, Kim JE, Yoo HJ, Gu J, Kim H, Chung J, Koh Y, Kim HK
Ann Clin Lab Sci 2016 Dec;46(6):696-700. PMID: 27993886
Vandana VP, Bindu PS, Sonam K, Govindaraj P, Taly AB, Gayathri N, Chiplunkar S, Govindaraju C, Arvinda HR, Nagappa M, Sinha S, Thangaraj K
Clin Neurol Neurosurg 2016 Sep;148:17-21. Epub 2016 Jun 14 doi: 10.1016/j.clineuro.2016.04.024. PMID: 27359089
El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F
Mol Genet Metab 2016 Apr;117(4):407-12. Epub 2016 Jan 27 doi: 10.1016/j.ymgme.2016.01.010. PMID: 26851065Free PMC Article
Seidowsky A, Hoffmann M, Glowacki F, Dhaenens CM, Devaux JP, de Sainte Foy CL, Provot F, Gheerbrant JD, Hummel A, Hazzan M, Dracon M, Dieux-Coeslier A, Copin MC, Noël C, Buob D
Clin Nephrol 2013 Dec;80(6):456-63. doi: 10.5414/CN107063. PMID: 22909780
Finsterer J, Barton P
Epileptic Disord 2010 Dec;12(4):330-4. Epub 2010 Nov 9 doi: 10.1684/epd.2010.0338. PMID: 21059492

Therapy

El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F
Mol Genet Metab 2016 Apr;117(4):407-12. Epub 2016 Jan 27 doi: 10.1016/j.ymgme.2016.01.010. PMID: 26851065Free PMC Article
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
El-Hattab AW, Emrick LT, Chanprasert S, Craigen WJ, Scaglia F
Int J Biochem Cell Biol 2014 Mar;48:85-91. Epub 2014 Jan 8 doi: 10.1016/j.biocel.2013.12.009. PMID: 24412347
El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F
Mol Genet Metab 2012 Apr;105(4):607-14. Epub 2012 Jan 24 doi: 10.1016/j.ymgme.2012.01.016. PMID: 22325939Free PMC Article
Finsterer J, Barton P
Epileptic Disord 2010 Dec;12(4):330-4. Epub 2010 Nov 9 doi: 10.1684/epd.2010.0338. PMID: 21059492

Prognosis

Dindyal S, Mistry K, Angamuthu N, Smith G, Hilton D, Arumugam P, Mathew J
Ann R Coll Surg Engl 2014 Jan;96(1):101E-103E. doi: 10.1308/003588414X13824511649733. PMID: 24417855
El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F
Mol Genet Metab 2012 Apr;105(4):607-14. Epub 2012 Jan 24 doi: 10.1016/j.ymgme.2012.01.016. PMID: 22325939Free PMC Article
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan.
Biochim Biophys Acta 2012 May;1820(5):619-24. Epub 2011 Apr 2 doi: 10.1016/j.bbagen.2011.03.015. PMID: 21443929
Santa KM
Pharmacotherapy 2010 Nov;30(11):1179-96. doi: 10.1592/phco.30.11.1179. PMID: 20973690
Scaglia F, Northrop JL
CNS Drugs 2006;20(6):443-64. PMID: 16734497

Clinical prediction guides

El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
Afroze B, Amjad N, Ibrahim SH, Humayun KN, Yakob Y
Brain Dev 2014 Nov;36(10):924-7. Epub 2014 Feb 5 doi: 10.1016/j.braindev.2013.12.009. PMID: 24508408
Piccoli GB, Bonino LD, Campisi P, Vigotti FN, Ferraresi M, Fassio F, Brocheriou I, Porpiglia F, Restagno G
BMC Nephrol 2012 Feb 21;13:9. doi: 10.1186/1471-2369-13-9. PMID: 22353239Free PMC Article
El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F
Mol Genet Metab 2012 Apr;105(4):607-14. Epub 2012 Jan 24 doi: 10.1016/j.ymgme.2012.01.016. PMID: 22325939Free PMC Article
Finsterer J, Barton P
Epileptic Disord 2010 Dec;12(4):330-4. Epub 2010 Nov 9 doi: 10.1684/epd.2010.0338. PMID: 21059492

Recent systematic reviews

Wang YX, Le WD
Chin Med J (Engl) 2015 Jul 5;128(13):1820-5. doi: 10.4103/0366-6999.159360. PMID: 26112726Free PMC Article
Nanau RM, Neuman MG
Clin Biochem 2013 Oct;46(15):1323-38. Epub 2013 Jun 20 doi: 10.1016/j.clinbiochem.2013.06.012. PMID: 23792104
Anglin RE, Garside SL, Tarnopolsky MA, Mazurek MF, Rosebush PI
J Clin Psychiatry 2012 Apr;73(4):506-12. doi: 10.4088/JCP.11r07237. PMID: 22579150
Finsterer J
Clin Neurol Neurosurg 2009 Oct;111(8):655-8. Epub 2009 Aug 6 doi: 10.1016/j.clineuro.2009.07.010. PMID: 19664878
Sinnathuray AR, Raut V, Awa A, Magee A, Toner JG
Otol Neurotol 2003 May;24(3):418-26. PMID: 12806294

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center