{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:47:12Z","timestamp":1787028432840,"version":"build-2736575974"},"reference-count":59,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,5,27]],"date-time":"2020-05-27T00:00:00Z","timestamp":1590537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Myopathies represent a wide spectrum of heterogeneous diseases mainly characterized by the abnormal structure or functioning of skeletal muscle. The current paper provides a comprehensive overview of cognitive deficits observed in various myopathies by consulting the main libraries (Pubmed, Scopus and Google Scholar). This review focuses on the causal classification of myopathies and concomitant cognitive deficits. In most studies, cognitive deficits have been found after clinical observations while lesions were also present in brain imaging. Most studies refer to hereditary myopathies, mainly Duchenne muscular dystrophy (DMD), and myotonic dystrophies (MDs); therefore, most of the overview will focus on these subtypes of myopathies. Most recent bibliographical sources have been preferred.<\/jats:p>","DOI":"10.3390\/ijms21113795","type":"journal-article","created":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T10:02:45Z","timestamp":1590660165000},"page":"3795","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Cognitive Deficits in Myopathies"],"prefix":"10.3390","volume":"21","author":[{"given":"Eleni","family":"Peristeri","sequence":"first","affiliation":[{"name":"Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, PC 41110 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athina-Maria","family":"Aloizou","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, PC 41110 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paraskevi","family":"Keramida","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, PC 41110 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zisis","family":"Tsouris","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, PC 41110 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasileios","family":"Siokas","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, PC 41110 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1480-390X","authenticated-orcid":false,"given":"Alexios-Fotios A.","family":"Mentis","sequence":"additional","affiliation":[{"name":"Public Health Laboratories, Hellenic Pasteur Institute, PC 11521 Athens, Greece"},{"name":"Department of Microbiology, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, PC 41110 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Efthimios","family":"Dardiotis","sequence":"additional","affiliation":[{"name":"Department of Neurology, Laboratory of Neurogenetics, Faculty of Medicine, University of Thessaly, University Hospital of Larissa, PC 41110 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.amjmed.2017.10.016","article-title":"An Approach to Myopathy for the Primary Care Clinician","volume":"131","author":"Salajegheh","year":"2018","journal-title":"Am. J. Med."},{"key":"ref_2","unstructured":"Guha, M. (2012). The Gale Encyclopedia of Children\u2019s Health: Infancy through Adolescence, Emerald Group Publishing Limited. [2nd ed.]."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1055\/s-2008-1062269","article-title":"Inherited myopathies and muscular dystrophies","volume":"28","author":"Cardamone","year":"2008","journal-title":"Semin Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/nbm.1582","article-title":"Brain metabolite composition in relation to cognitive function and dystrophin mutations in boys with Duchenne muscular dystrophy","volume":"24","author":"Kreis","year":"2011","journal-title":"NMR Biomed."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.jocn.2010.07.118","article-title":"Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy","volume":"18","author":"Wingeier","year":"2011","journal-title":"J. Clin. Neurosci."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1542\/peds.2018-0333L","article-title":"Psychosocial Management of the Patient with Duchenne Muscular Dystrophy","volume":"142","author":"Colvin","year":"2018","journal-title":"Pediatrics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.jpeds.2006.12.045","article-title":"Delayed developmental language milestones in children with Duchenne\u2019s muscular dystrophy","volume":"150","author":"Cyrulnik","year":"2007","journal-title":"J. Pediatr."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1017\/S1355617701711058","article-title":"Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of duchenne muscular dystrophy","volume":"7","author":"Hinton","year":"2001","journal-title":"J. Int. Neuropsychol. Soc."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1076\/chin.4.2.110.3183","article-title":"Neuropsychological profile of Duchenne muscular dystrophy","volume":"4","author":"Cotton","year":"1998","journal-title":"Child. Neuropsychol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/j.1469-8749.1998.tb15351.x","article-title":"Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy","volume":"40","author":"Billard","year":"1998","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1111\/j.1469-8749.2004.tb00466.x","article-title":"Specific cognitive deficits are common in children with Duchenne muscular dystrophy","volume":"46","author":"Wicksell","year":"2004","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1212\/WNL.54.11.2127","article-title":"Poor verbal working memory across intellectual level in boys with Duchenne dystrophy","volume":"54","author":"Hinton","year":"2000","journal-title":"Neurology"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1111\/j.1469-8749.2007.00123.x","article-title":"Verbal and memory skills in males with Duchenne muscular dystrophy","volume":"49","author":"Hinton","year":"2007","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.pediatrneurol.2005.08.029","article-title":"Are males with Duchenne muscular dystrophy at risk for reading disabilities?","volume":"34","author":"Hendriksen","year":"2006","journal-title":"Pediatr. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.bandl.2007.02.003","article-title":"Evaluation of narrative abilities in patients suffering from Duchenne muscular dystrophy","volume":"102","author":"Marini","year":"2007","journal-title":"Brain Lang."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/j.neubiorev.2007.09.001","article-title":"Duchenne muscular dystrophy: A cerebellar disorder?","volume":"32","author":"Cyrulnik","year":"2008","journal-title":"Neurosci. Biobehav. Rev."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1093\/brain\/awf012","article-title":"Brain function in Duchenne muscular dystrophy","volume":"125","author":"Anderson","year":"2002","journal-title":"Brain"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1177\/0883073815570154","article-title":"Cognitive and Neurobehavioral Profile in Boys with Duchenne Muscular Dystrophy","volume":"30","author":"Banihani","year":"2015","journal-title":"J. Child. Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.jpeds.2012.03.020","article-title":"Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: Phenotype-genotype correlation","volume":"161","author":"Pane","year":"2012","journal-title":"J. Pediatr."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.ridd.2015.07.025","article-title":"Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia","volume":"45\u201346","author":"Astrea","year":"2015","journal-title":"Res. Dev. Disabil."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.nmd.2017.11.018","article-title":"Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions","volume":"28","author":"Battini","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/BF02409661","article-title":"Infantile autism and Duchenne muscular dystrophy","volume":"14","author":"Komoto","year":"1984","journal-title":"J. Autism Dev. Disord."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1177\/08830738050200100201","article-title":"Association of Duchenne muscular dystrophy with autism spectrum disorder","volume":"20","author":"Wu","year":"2005","journal-title":"J. Child. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1023\/A:1022947728569","article-title":"Two children with muscular dystrophies ascertained due to referral for diagnosis of autism","volume":"33","author":"Zwaigenbaum","year":"2003","journal-title":"J. Autism. Dev. Disord."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.pediatrneurol.2009.05.011","article-title":"Association of autistic spectrum disorders with dystrophinopathies","volume":"41","author":"Hinton","year":"2009","journal-title":"Pediatr. Neurol."},{"key":"ref_26","unstructured":"Blumberg, S.J., Bramlett, M.D., Kogan, M.D., Schieve, L.A., Jones, J.R., and Lu, M.C. (2013). Changes in Prevalence of Parent-Reported Autism Spectrum Disorder in School-Aged U.S. Children: 2007 to 2011\u20132012, National Center for Health Statistics. National Health Statistics Report."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1001\/jama.289.1.49","article-title":"Prevalence of Autism in a US Metropolitan Area","volume":"289","author":"Rice","year":"2003","journal-title":"JAMA"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"59","DOI":"10.3233\/JND-150088","article-title":"Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism","volume":"22","author":"Meola","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1055\/s-0032-1329202","article-title":"Myotonic Dystrophy: From Bench to Bedside","volume":"32","author":"Johnson","year":"2012","journal-title":"Semin Neurol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S1474-4422(12)70204-1","article-title":"The myotonic dystrophies: Molecular, clinical, and therapeutic challenges","volume":"11","author":"Udd","year":"2012","journal-title":"Lancet Neurol."},{"key":"ref_31","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Stephens, K., and Amemiya, A. (2020, March 12). Myotonic dystrophy type 2, Gene Reviews [Internet], Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1466\/."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1002\/mus.26716","article-title":"Clinical and genetic characteristics of childhood-onset myotonic dystrophy","volume":"60","author":"Stokes","year":"2019","journal-title":"Muscle Nerve"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"331","DOI":"10.3233\/JND-170277","article-title":"Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy","volume":"5","author":"Hicks","year":"2018","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_34","first-page":"90","article-title":"Learning disabilities in neuromuscular disorders: A springboard for adult life","volume":"35","author":"Astrea","year":"2016","journal-title":"Acta Myol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/S0006-3223(99)00016-5","article-title":"Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients","volume":"46","author":"Perini","year":"1999","journal-title":"Biol. Psychiatry"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/s004010000216","article-title":"Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype","volume":"100","author":"Endo","year":"2000","journal-title":"Acta Neuropathol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.jocn.2019.07.029","article-title":"Differences in the pattern of cognitive impairments between juvenile and adult onset myotonic dystrophy type 1","volume":"68","author":"Woo","year":"2019","journal-title":"J. Clin. Neurosci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1111\/j.1469-8749.2012.04379.x","article-title":"Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1","volume":"54","author":"Douniol","year":"2012","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"783","DOI":"10.2466\/pr0.1987.60.3.783","article-title":"Disturbed personality and psychosocial adjustment in myotonic dystrophy: Relationship to intellectual\/cognitive function and underlying affective disorder (depression)","volume":"60","author":"Brumback","year":"1987","journal-title":"Psychol. Rep."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jnnp.65.3.353","article-title":"Psychopathological and emotional deficits in myotonic dystrophy","volume":"65","author":"Bungener","year":"1998","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1001\/archneur.55.5.635","article-title":"Personality patterns in patients with myotonic dystrophy","volume":"55","author":"Delaporte","year":"1998","journal-title":"Arch. Neurol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1101\/gr.070409.107","article-title":"The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases","volume":"18","author":"Usdin","year":"2008","journal-title":"Genome Res."},{"key":"ref_43","first-page":"317","article-title":"Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy","volume":"11","author":"Goossens","year":"2000","journal-title":"Genet. Couns."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"3527","DOI":"10.1093\/brain\/awr299","article-title":"The brain in myotonic dystrophy 1 and 2: Evidence for a predominant white matter disease","volume":"134","author":"Minnerop","year":"2011","journal-title":"Brain"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/S0960-8966(03)00137-8","article-title":"Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM\/DM-2)","volume":"13","author":"Meola","year":"2003","journal-title":"Neuromuscul. Disord."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1212\/WNL.53.5.1042","article-title":"Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy","volume":"53","author":"Meola","year":"1999","journal-title":"Neurology"},{"key":"ref_47","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Stephens, K., and Amemiya, A. (2020, March 11). Gene Reviews, Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1476\/."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.jocn.2019.03.063","article-title":"Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum","volume":"64","year":"2019","journal-title":"J. Clin. Neurosci."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1007\/s13311-018-00674-4","article-title":"Diagnosis and Treatment of Mitochondrial Myopathies","volume":"15","author":"Ahmed","year":"2018","journal-title":"Neurotherapeutics"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1590\/0004-282X20150154","article-title":"When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?","volume":"73","author":"Lorenzoni","year":"2015","journal-title":"Arq Neuropsiquiatr."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.mito.2017.12.012","article-title":"Cognitive impairment, clinical severity and MRI changes in MELAS syndrome","volume":"44","author":"Kraya","year":"2019","journal-title":"Mitochondrion"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2015.06.004","article-title":"MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options","volume":"116","author":"Adesina","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"913","DOI":"10.4103\/2230-8210.117215","article-title":"Glucocorticoid-induced myopathy: Pathophysiology, diagnosis, and treatment","volume":"17","author":"Gupta","year":"2013","journal-title":"Indian J. Endocrinol. Metab."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/s12020-017-1472-5","article-title":"Diagnostic work-up in steroid myopathy","volume":"60","author":"Minetto","year":"2018","journal-title":"Endocrine"},{"key":"ref_55","first-page":"1174","article-title":"Osteoarthropathies and Myopathies associated with Disorders of the Thyroid Endocrine System","volume":"143","author":"Nehls","year":"2018","journal-title":"Dtsch. Med. Wochenschr."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.pediatrneurol.2014.12.005","article-title":"Thyroid-related neurological disorders and complications in children","volume":"52","author":"Taplin","year":"2015","journal-title":"Pediatr. Neurol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"e7591","DOI":"10.1097\/MD.0000000000007591","article-title":"Myopathy in hyperthyroidism as a consequence of rapid reduction of thyroid hormone: A case report","volume":"96","author":"Li","year":"2017","journal-title":"Medicine"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1097\/MED.0000000000000089","article-title":"Psychiatric and cognitive manifestations of hypothyroidism","volume":"21","author":"Samuels","year":"2014","journal-title":"Curr. Opin. Endocrinol. Diabetes Obes."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"3156","DOI":"10.3760\/cma.j.issn.0366-6999.20130944","article-title":"Neuropsychiatric disorders and cognitive dysfunction in patients with Cushing\u2019s disease","volume":"126","author":"Chen","year":"2013","journal-title":"Chin. Med. J."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/21\/11\/3795\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:33:08Z","timestamp":1760175188000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/21\/11\/3795"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,27]]},"references-count":59,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2020,6]]}},"alternative-id":["ijms21113795"],"URL":"https:\/\/doi.org\/10.3390\/ijms21113795","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,27]]}}}