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Myotonic dystrophy

MedGen UID:
10239
Concept ID:
C0027126
Disease or Syndrome
Synonyms: Dystrophia myotonica; Myotonia atrophica
SNOMED CT: DM - dystrophia myotonica (1177122009); Myotonia dystrophica (1177122009); Myotonic dystrophy (1177122009); Dystrophia myotonica (1177122009)
 
Monarch Initiative: MONDO:0016107
OMIM® Phenotypic series: PS160900
Orphanet: ORPHA206647

Definition

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with onset at birth can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic Dystrophy See also myotonic dystrophy-2 (DM2; 602668), which is caused by mutation in the ZNF9 gene (116955) on chromosome 3q21. [from OMIM]

Additional description

From MedlinePlus Genetics
Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.

Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw.

Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop a condition called diabetes mellitus, in which blood sugar (glucose) levels can become dangerously high. The features of myotonic dystrophy often develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family.

There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects muscles farthest from the center of the body (distal muscles), such as those of the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves muscles close to the center of the body (proximal muscles), such as the those of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes.

There are two variations of myotonic dystrophy type 1: the mild and congenital types. Mild myotonic dystrophy is apparent in mid to late adulthood. Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.  https://medlineplus.gov/genetics/condition/myotonic-dystrophy

Professional guidelines

PubMed

Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF
J Clin Sleep Med 2021 Sep 1;17(9):1881-1893. doi: 10.5664/jcsm.9328. PMID: 34743789Free PMC Article
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Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274

Recent clinical studies

Etiology

Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E
Neurologia (Engl Ed) 2020 Apr;35(3):185-206. Epub 2019 Apr 16 doi: 10.1016/j.nrl.2019.01.001. PMID: 31003788
Okkersen K, Buskes M, Groenewoud J, Kessels RPC, Knoop H, van Engelen B, Raaphorst J
Cortex 2017 Oct;95:143-155. Epub 2017 Aug 16 doi: 10.1016/j.cortex.2017.08.008. PMID: 28892766
Jacobs D, Willekens D, de Die-Smulders C, Frijns JP, Steyaert J
Am J Med Genet B Neuropsychiatr Genet 2017 Jun;174(4):359-366. Epub 2017 Apr 27 doi: 10.1002/ajmg.b.32524. PMID: 28449271
Fitzgerald BP, Conn KM, Smith J, Walker A, Parkhill AL, Hilbert JE, Luebbe EA, Moxley RT III
J Neurol 2016 Dec;263(12):2528-2537. Epub 2016 Oct 12 doi: 10.1007/s00415-016-8300-3. PMID: 27734165Free PMC Article
Leung DG, Wagner KR
Ann Neurol 2013 Sep;74(3):404-11. doi: 10.1002/ana.23989. PMID: 23939629Free PMC Article

Diagnosis

Hamel JI
Continuum (Minneap Minn) 2022 Dec 1;28(6):1715-1734. doi: 10.1212/CON.0000000000001184. PMID: 36537977
Montagnese F, Schoser B
Curr Opin Neurol 2021 Oct 1;34(5):738-747. doi: 10.1097/WCO.0000000000000964. PMID: 33990102
Meola G
Acta Myol 2020 Dec;39(4):222-234. Epub 2020 Dec 1 doi: 10.36185/2532-1900-026. PMID: 33458578Free PMC Article
Johnson NE
Continuum (Minneap Minn) 2019 Dec;25(6):1682-1695. doi: 10.1212/CON.0000000000000793. PMID: 31794466
Thornton CA
Neurol Clin 2014 Aug;32(3):705-19, viii. Epub 2014 Jun 6 doi: 10.1016/j.ncl.2014.04.011. PMID: 25037086Free PMC Article

Therapy

Finkel RS, Day JW, Pascual Pascual SI, Ryan MM, Mercuri E, De Vivo DC, Montes J, Gurgel-Giannetti J, Monine M, Gambino G, Makepeace C, Foster R, Berger Z; DEVOTE Study Group
J Neuromuscul Dis 2023;10(5):813-823. doi: 10.3233/JND-221667. PMID: 37393513Free PMC Article
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Pascual-Gilabert M, Artero R, López-Castel A
Drug Discov Today 2023 Mar;28(3):103489. Epub 2023 Jan 9 doi: 10.1016/j.drudis.2023.103489. PMID: 36634841
Jones K, Hawke F, Newman J, Miller JA, Burns J, Jakovljevic DG, Gorman G, Turnbull DM, Ramdharry G
Cochrane Database Syst Rev 2021 May 24;5(5):CD013544. doi: 10.1002/14651858.CD013544.pub2. PMID: 34027632Free PMC Article
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Prognosis

Leali M, Aimo A, Ricci G, Torri F, Todiere G, Vergaro G, Grigoratos C, Giannoni A, Aquaro GD, Siciliano G, Emdin M, Passino C, Barison A
J Cardiovasc Med (Hagerstown) 2023 Jun 1;24(6):340-347. Epub 2023 Apr 27 doi: 10.2459/JCM.0000000000001476. PMID: 37129928
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF
Lancet Neurol 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. PMID: 36804094
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E
Neurologia (Engl Ed) 2020 Apr;35(3):185-206. Epub 2019 Apr 16 doi: 10.1016/j.nrl.2019.01.001. PMID: 31003788
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B7-B9. doi: 10.1016/j.ajog.2019.09.021. PMID: 31787162
Savić Pavićević D, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G, Romac S
Biomed Res Int 2013;2013:391821. Epub 2013 Mar 18 doi: 10.1155/2013/391821. PMID: 23586035Free PMC Article

Clinical prediction guides

Leali M, Aimo A, Ricci G, Torri F, Todiere G, Vergaro G, Grigoratos C, Giannoni A, Aquaro GD, Siciliano G, Emdin M, Passino C, Barison A
J Cardiovasc Med (Hagerstown) 2023 Jun 1;24(6):340-347. Epub 2023 Apr 27 doi: 10.2459/JCM.0000000000001476. PMID: 37129928
Knak KL, Sheikh AM, Andersen H, Witting N, Vissing J
Neurology 2020 Jun 16;94(24):e2508-e2520. Epub 2020 May 26 doi: 10.1212/WNL.0000000000009625. PMID: 32457208
Ratti S, Mongiorgi S, Ramazzotti G, Follo MY, Mariani GA, Suh PG, McCubrey JA, Cocco L, Manzoli L
J Cell Biochem 2017 Aug;118(8):1969-1978. Epub 2017 Apr 25 doi: 10.1002/jcb.25894. PMID: 28106288
Gallais B, Montreuil M, Gargiulo M, Eymard B, Gagnon C, Laberge L
BMC Neurol 2015 Aug 22;15:148. doi: 10.1186/s12883-015-0401-6. PMID: 26296336Free PMC Article
Savić Pavićević D, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G, Romac S
Biomed Res Int 2013;2013:391821. Epub 2013 Mar 18 doi: 10.1155/2013/391821. PMID: 23586035Free PMC Article

Recent systematic reviews

Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF
J Clin Sleep Med 2021 Sep 1;17(9):1881-1893. doi: 10.5664/jcsm.9328. PMID: 34743789Free PMC Article
Jones K, Hawke F, Newman J, Miller JA, Burns J, Jakovljevic DG, Gorman G, Turnbull DM, Ramdharry G
Cochrane Database Syst Rev 2021 May 24;5(5):CD013544. doi: 10.1002/14651858.CD013544.pub2. PMID: 34027632Free PMC Article
Voet NB, van der Kooi EL, van Engelen BG, Geurts AC
Cochrane Database Syst Rev 2019 Dec 6;12(12):CD003907. doi: 10.1002/14651858.CD003907.pub5. PMID: 31808555Free PMC Article
Juźwik CA, S Drake S, Zhang Y, Paradis-Isler N, Sylvester A, Amar-Zifkin A, Douglas C, Morquette B, Moore CS, Fournier AE
Prog Neurobiol 2019 Nov;182:101664. Epub 2019 Jul 26 doi: 10.1016/j.pneurobio.2019.101664. PMID: 31356849
Okkersen K, Monckton DG, Le N, Tuladhar AM, Raaphorst J, van Engelen BGM
Neurology 2017 Aug 29;89(9):960-969. Epub 2017 Aug 2 doi: 10.1212/WNL.0000000000004300. PMID: 28768849

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