Alteración cognitiva en la distrofia miotónica tipo 1 (enfermedad de Steinert)

  1. A. Rosado Bartolomé 1
  2. V. Puertas Martín 2
  3. C. Domínguez González 3
  4. M. Ramos Miranda 4
  1. 1 Centro de Salud Mar Báltico, Madrid, España
  2. 2 Facultad de Educación, Universidad Internacional de la Rioja (UNIR), Logroño, La Rioja, España
  3. 3 Hospital Universitario 12 de Octubre, Madrid, España
  4. 4 Associació Catalana de Persones amb Malalties Neuromusculars (ASEM), Barcelona, España
Revista:
Semergen: revista española de medicina de familia

ISSN: 1138-3593

Año de publicación: 2022

Número: 3

Páginas: 208-213

Tipo: Artículo

DOI: 10.1016/J.SEMERG.2022.01.013 DIALNET GOOGLE SCHOLAR

Otras publicaciones en: Semergen: revista española de medicina de familia

Resumen

Traditionally, it has been recognized that patients with myotonic dystrophy type 1 (MD-1) – also known as Steinert disease –, they show a specific behaviour, not including those who suffer from mental or neurodevelopmental diseases. The neurological substrate of this behaviour is described. The aim of this text has two purposes. The first intention is that clinical staff, when faced with a patient with MD-1, always consider the cognitive aspects of the disease. On the other hand, it is intended to combat preconceived ideas about the particular behaviour of these patients.

Referencias bibliográficas

  • T. Ashizawa, C. Gagnon, W.J. Groh, L. Gutmann, N.E. Johnson, G. Meola, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1 Neurol Clin Pract., 8 (2018), pp. 507-520, 10.1212/CPJ.0000000000000531 View PDFView Record in ScopusGoogle Scholar
  • W.J. Adie, J.G. Greenfield Dystrophia Myotonica (Myotonia atrophica) Brain., 46 (1923), pp. 73-127 View PDFCrossRefView Record in ScopusGoogle Scholar
  • J.E. Caughey, N.C. Myrianthopoulos Dystrophia myotonica and related disorders Charles C. Thomas, Springfield (1963) Google Scholar
  • A. Rosado-Bartolomé, G. Gutiérrez-Gutiérrez La distrofia miotónica de Steinert en urgencias Emergencias., 28 (2016), pp. 270-272 View Record in ScopusGoogle Scholar
  • S. Jean, L. Richer, L. Laberge, J. Mathieu Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM-1) Orphanet J Rare Dis., 9 (2014), p. 186, 10.1186/s13023-014-0186-5 View PDFView Record in ScopusGoogle Scholar
  • R. Seijas-Gomez, I. Basterra-Jimenez, P. Luna-Lario, J. Tirapu-Ustarroz, T. Cabada-Giadas, M. Iridoy-Zulet, et al. Estudio descriptivo del perfil neuropsicológico y psicopatológico en pacientes con distrofia miotónica tipo 1 [A descriptive study of the neuropsychological and psychopathological profile in patients with type 1 myotonic dystrophy] Rev Neurol., 61 (2015), pp. 529-535 View PDFCrossRefView Record in ScopusGoogle Scholar
  • N.H. Tanaka, M. Arai, M. Harada, A. Hozumi, K. Hirata Cognition and event-related potentials in adult-onset non-demented myotonic dystrophy type 1 Clin Neurophysiol., 123 (2012), pp. 261-269, 10.1016/j.clinph.2011.06.012 View PDFView Record in ScopusGoogle Scholar
  • A. Modoni, G. Silvestri, M.G. Pomponi, F. Mangiola, P.A. Tonali, C. Marra Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1 Arch Neurol., 61 (2004), pp. 1943-1947, 10.1001/archneur.61.12.1943 View PDFView Record in ScopusGoogle Scholar
  • I. Zalonis, A. Bonakis, F. Christidi, E. Vagiakis, S.G. Papageorgiou, N. Kalfakis, et al. Toward understanding cognitive impairment in patients with myotonic dystrophy type 1 Arch Clin Neuropsychol., 25 (2010), pp. 303-313, 10.1093/arclin/acq016 View PDFView Record in ScopusGoogle Scholar
  • Y.G. Weber, R. Roebling, J. Kassubek, S. Hoffmann, A. Rosenbohm, M. Wolf, et al. Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2 Neurology., 74 (2010), pp. 1108-1117, 10.1212/WNL.0b013e3181d8c35f View PDFView Record in ScopusGoogle Scholar
  • A. Sistiaga, I. Urreta, M. Jodar, A.M. Cobo, J. Emparanza, D. Otaegui, et al. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM-1): CTG repeats, cognition and personality in DM-1 Psychol Med., 40 (2010), pp. 487-495, 10.1017/S0033291709990602 View PDFView Record in ScopusGoogle Scholar
  • B. Gallais, C. Gagnon, J. Mathieu, L. Richer Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study Neuromuscul Disord., 27 (2017), pp. 61-72, 10.1016/j.nmd.2016.10.003 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • S. Winblad, L. Samuelsson, C. Lindberg, G. Meola Cognition in myotonic dystrophy type 1: a 5-year follow-up study Eur J Neurol., 23 (2016), pp. 1471-1476, 10.1111/ene.13062 View PDFView Record in ScopusGoogle Scholar
  • H. Fujino, H. Shingaki, S. Suwazono, Y. Ueda, C. Wada, T. Nakayama, et al. Cognitive impairment and quality of life in patients with myotonic dystrophy type 1 Muscle Nerve., 57 (2018), pp. 742-748, 10.1002/mus.26022 View PDFView Record in ScopusGoogle Scholar
  • M.M. Axford, C.E. Pearson Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report Neuromuscul Disord., 23 (2013), pp. 370-374, 10.1016/j.nmd.2013.01.003 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • F. Caso, F. Agosta, S. Peric, V. Rakočević-Stojanović, M. Copetti, V.S. Kostic, et al. Cognitive impairment in myotonic dystrophy type 1 is associated with white matter damage PLoS One., 9 (2014), p. e104697, 10.1371/journal.pone.0104697 View PDFView Record in ScopusGoogle Scholar
  • S. Baldanzi, F. Bevilacqua, R. Lorio, L. Volpi, C. Simoncini, A. Petrucci, et al. Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study Orphanet J Rare Dis., 11 (2016), p. 34, 10.1186/s13023-016-0417-z View PDFView Record in ScopusGoogle Scholar
  • G. Meola, V. Sansone, D. Perani, A. Colleluori, S. Cappa, M. Cotelli, et al. Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy Neurology., 53 (1999), pp. 1042-1050, 10.1212/wnl.53.5.1042 View PDFView Record in ScopusGoogle Scholar
  • M. Kobayakawa, N. Tsuruya, M. Kawamura Theory of mind impairment in adult-onset myotonic dystrophy type 1 Neurosci Res., 72 (2012), pp. 341-346, 10.1016/j.neures.2012.01.005 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • L. Serra, M. Cercignani, M. Bruschini, L. Cipolotti, M. Mancini, G. Silvestri, et al. I Know that You Know that I Know”: Neural Substrates Associated with Social Cognition Deficits in DM-1 Patients PLoS One., 11 (2016), p. e0156901, 10.1371/journal.pone.0156901 View PDFView Record in ScopusGoogle Scholar
  • A.B. Ekström, L. Hakenäs-Plate, L. Samuelsson, M. Tulinius, E. Wentz Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms Am J Med Genet B Neuropsychiatr Genet., 147B (2008), pp. 918-926, 10.1002/ajmg.b.30698 View PDFView Record in ScopusGoogle Scholar
  • L. Serra, G. Silvestri, A. Petrucci, B. Basile, M. Masciullo, E. Makovac, et al. Abnormal functional brain connectivity and personality traits in myotonic dystrophy type 1 JAMA Neurol., 71 (2014), pp. 603-611, 10.1001/jamaneurol.2014.130 View PDFView Record in ScopusGoogle Scholar
  • R. Adolphs The neurobiology of social cognition Curr Opin Neurobiol., 11 (2001), pp. 231-239, 10.1016/s0959-4388(00)00202-6 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • N. Angeard, E. Huerta, A. Jacquette, D. Cohen, J. Xavier, M. Gargiulo, et al. Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? Neuromuscul Disord., 28 (2018), pp. 216-221, 10.1016/j.nmd.2017.12.006 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • M.G. D’Angelo, N. Bresolin Cognitive impairment in neuromuscular disorders Muscle Nerve., 34 (2006), pp. 16-33, 10.1002/mus.20535 View PDFView Record in ScopusGoogle Scholar
  • C. Turner, D. Hilton-Jones Myotonic dystrophy: diagnosis, management and new therapies Curr Opin Neurol., 27 (2014), pp. 599-606, 10.1097/WCO.0000000000000128 View PDFView Record in ScopusGoogle Scholar
  • H. Fujino, H. Shingaki, S. Suwazono, Y. Ueda, C. Wada, T. Nakayama, et al. Cognitive impairment and quality of life in patients with myotonic dystrophy type 1 Muscle Nerve., 57 (2018), pp. 742-748, 10.1002/mus.26022 View PDFView Record in ScopusGoogle Scholar
  • C. Delaporte Personality patterns in patients with myotonic dystrophy Arch Neurol., 55 (1998), pp. 635-640, 10.1001/archneur.55.5.635 View PDFView Record in ScopusGoogle Scholar
  • S. Peric, M. Sreckov, I. Basta, D. Lavrnic, M. Vujnic, I. Marjanovic, et al. Dependent and paranoid personality patterns in myotonic dystrophy type 1 Acta Neurol Scand., 129 (2014), pp. 219-225, 10.1111/ane.12173 View PDFView Record in ScopusGoogle Scholar
  • B. Nätterlund, G. Ahlström Activities of daily living and quality of life in persons with muscular dystrophy J Rehabil Med., 33 (2001), pp. 206-211, 10.1080/165019701750419590 View PDFView Record in ScopusGoogle Scholar
  • C. Heatwole, R. Bode, N. Johnson, C. Quinn, W. Martens, M.P. McDermott, et al. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1) Neurology., 79 (2012), pp. 348-357, 10.1212/WNL.0b013e318260cbe6 View PDFView Record in ScopusGoogle Scholar
  • C. Angelini, E. Tasca Fatigue in muscular dystrophies Neuromuscul Disord., 22 Suppl 3 (2012), pp. S214-S220, 10.1016/j.nmd.2012.10.010 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • V. Lohner, R.L. Brookes, M.J. Hollocks, R.G. Morris, H.S. Markus Apathy, but not depression, is associated with executive dysfunction in cerebral small vessel disease PLoS One., 12 (2017), p. e0176943, 10.1371/journal.pone.0176943 View PDFView Record in ScopusGoogle Scholar
  • M.R. Rose, R. Sadjadi, J. Weinman, T. Akhtar, S. Pandya, J.T. Kissel, et al. Role of disease severity, illness perceptions, and mood on quality of life in muscle disease Muscle Nerve., 46 (2012), pp. 351-359, 10.1002/mus.23320 View PDFView Record in ScopusGoogle Scholar
  • C. Gagnon, G. Meola, L.J. Hébert, L. Laberge, M. Leone, C. Heatwole Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain October 16 2013 Neuromuscul Disord, 25 (2015), pp. 603-616, 10.1016/j.nmd.2015.01.008 ArticleDownload PDFView Record in ScopusGoogle Scholar
  • H. Fujino, H. Shingaki, S. Suwazono, Y. Ueda, C. Wada, T. Nakayama, et al. Cognitive impairment and quality of life in patients with myotonic dystrophy type 1 Muscle Nerve., 57 (2018), pp. 742-748, 10.1002/mus.26022 View PDFView Record in ScopusGoogle Scholar
  • E.M. Rosti-Otajärvi, P.I. Hämäläinen Neuropsychological rehabilitation for multiple sclerosis Cochrane Database Syst Rev. (2014), p. CD009131, 10.1002/14651858.CD009131.pub3 View PDFView Record in ScopusGoogle Scholar
  • R. Conforti, M. de Cristofaro, A. Cristofano, B. Brogna, A. Sardaro, G. Tedeschi, et al. Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study Neuroradiol J., 29 (2016), pp. 36-45, 10.1177/1971400915621325 View PDFView Record in ScopusGoogle Scholar
  • A. Rosado-Bartolomé, G. Gutiérrez-Gutiérrez, J. Prieto-Matos Actualización en distrofia miotónica tipo 1 del adulto Semergen., 46 (2020), pp. 355-362, 10.1016/j.semerg.2020.01.002 ArticleDownload PDFView Record in ScopusGoogle Scholar