Abstract
Myotonic dystrophy is the commonest adult muscular dystrophy. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are often discussed jointly, and although they share many clinical and molecular features, differences do exist. Historically, more is known about DM1 than about DM2. The literature in the field of myotonic dystrophy is broad, with advances in our understanding of DM2. This article reviews recent developments in DM2 with respect to diagnosis, systemic features, and molecular mechanisms of the disease.
Similar content being viewed by others
References
Liquori CL et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001;293(5531):864–7.
Thornton CA, Griggs RC, Moxley 3rd RT. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol. 1994;35(3):269–72.
Ricker K et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol. 1995;52(1):25–31.
Rowland LP. Thornton-Griggs-Moxley disease: myotonic dystrophy type 2. Ann Neurol. 1994;36(5):803–4.
Ricker K et al. Linkage of proximal myotonic myopathy to chromosome 3q. Neurology. 1999;52(1):170–1.
Suominen T et al. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet. 2011;19(7):776–82.
Ranum LP, Day JW. Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Curr Neurol Neurosci Rep. 2002;2(5):465–70.
Day JW et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60(4):657–64.
Hilbert JE et al. Diagnostic odyssey of patients with myotonic dystrophy. J Neurol. 2013;260(10):2497–504.
Matsuura T et al. Myotonic dystrophy type 2 is rare in the Japanese population. J Hum Genet. 2012;57(3):219–20.
Kamsteeg EJ et al. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. Eur J Hum Genet. 2012;20(12):1203–8.
Fournier E et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol. 2004;56(5):650–61.
Gawel M et al. Value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 AND DM2). Muscle Nerve. 2013. doi:10.1002/mus.23908.
Lee TM et al. Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9. Congest Heart Fail. 2012;18(3):183–6.
Sansone VA et al. The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes. Int J Cardiol. 2013;168(2):1147–53.
Ha AH et al. Predictors of atrio-ventricular conduction disease, long-term outcomes in patients with myotonic dystrophy types I and II. Pacing Clin Electrophysiol. 2012;35(10):1262–9.
Schneider-Gold C et al. Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study. Muscle Nerve. 2004;30(5):636–44.
Spengos K et al. Delayed contrast enhancement on cardiac MRI unmasks subclinical cardiomyopathy in a case of myotonic dystrophy type 2. Hellenic J Cardiol. 2012;53(4):324–6.
Turkbey EB et al. Assessment of cardiac involvement in myotonic muscular dystrophy by T1 mapping on magnetic resonance imaging. Heart Rhythm. 2012;9(10):1691–7.
Romigi A et al. Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires. Eur J Neurol. 2013. doi:10.1111/ene.12226.
Shepard P et al. Sleep disturbances in myotonic dystrophy type 2. Eur Neurol. 2012;68(6):377–80.
Lam EM et al. Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. Neurology. 2013;81(2):157–64.
Bhat S et al. Sleep disordered breathing and other sleep dysfunction in myotonic dystrophy type 2. Sleep Med. 2012;13(9):1207–8.
Stramare R et al. MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med. 2010;115(4):585–99.
Kornblum C et al. Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2: a whole body highfield MRI study. J Neurol. 2006;253(6):753–61.
Tieleman AA et al. Skeletal muscle involvement in myotonic dystrophy type 2. A comparative muscle ultrasound study. Neuromuscul Disord. 2012;22(6):492–9.
Meola G et al. Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord. 2003;13(10):813–21.
Franc DT et al. Cerebral and muscle MRI abnormalities in myotonic dystrophy. Neuromuscul Disord. 2012;22(6):483–91.
Suokas KI et al. Pain in patients with myotonic dystrophy type 2: a postal survey in Finland. Muscle Nerve. 2012;45(1):70–4.
Rhodes JD et al. Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts. Hum Mol Genet. 2012;21(4):852–62.
Passeri E et al. Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies. J Neurol Sci. 2013;331(1–2):132–5.
Mathieu J et al. Anesthetic and surgical complications in 219 cases of myotonic dystrophy. Neurology. 1997;49(6):1646–50.
Veyckemans F, Scholtes JL. Myotonic dystrophies type 1 and 2: anesthetic care. Paediatr Anaesth. 2013;23(9):794–803.
Win AK et al. Increased cancer risks in myotonic dystrophy. Mayo Clin Proc. 2012;87(2):130–5.
Das M et al. Correlates of tumor development in patients with myotonic dystrophy. J Neurol. 2012;259(10):2161–6.
Awater C, Zerres K, Rudnik-Schoneborn S. Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. Eur J Obstet Gynecol Reprod Biol. 2012;162(2):153–9.
Kurosaki T et al. The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. PLoS One. 2012;7(6):e38379.
Bachinski LL et al. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet. 2003;73(4):835–48.
Nakamori M et al. Splicing biomarkers of disease severity in myotonic dystrophy. Ann Neurol. 2013. doi:10.1002/ana.23992.
Santoro M et al. Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2. Mol Cell Biochem. 2013;380(1–2):259–65.
Lukas Z et al. Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2. Neuromuscul Disord. 2012;22(7):604–16.
Giagnacovo M et al. Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2. Histochem Cell Biol. 2012;138(4):699–707.
Eisenberg I et al. Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A. 2007;104(43):17016–21.
Greco S et al. Deregulated microRNAs in myotonic dystrophy type 2. PLoS One. 2012;7(6):e39732.
Faenza I et al. A role for PLCbeta1 in myotonic dystrophies type 1 and 2. FASEB J. 2012;26(7):3042–8.
Ursu SF et al. ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro. Acta Myol. 2012;31(2):144–53.
Berg J et al. Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current. Neurology. 2004;63(12):2371–5.
Tang ZZ et al. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. Hum Mol Genet. 2012;21(6):1312–24.
Acknowledgments
We thank Lewis P. Rowland for inspiration, wisdom, and guidance.
Compliance with Ethics Guidelines
ᅟ
Conflict of Interest
Christina M. Ulane and Sarah Teed declare that they have no conflict of interest.
Jacinda Sampson has received a grant from the Marigold Foundation for myotonic dystrophy support group development. She also has received honorarium and paid travel expenses from the Myotonic Dystrophy Foundation for her role as a guest speaker.
Human and Animal Rights and Informed Consent
This article does not contain any studies with human or animal subjects performed by any of the authors.
Author information
Authors and Affiliations
Corresponding author
Additional information
This article is part of the Topical Collection on Nerve and Muscle
Rights and permissions
About this article
Cite this article
Ulane, C.M., Teed, S. & Sampson, J. Recent Advances in Myotonic Dystrophy Type 2. Curr Neurol Neurosci Rep 14, 429 (2014). https://doi.org/10.1007/s11910-013-0429-1
Published:
DOI: https://doi.org/10.1007/s11910-013-0429-1