Introduction: Becker muscular dystrophy (BMD) results in decreased dystrophin with implications for mental health.
Methods: This is a retrospective case series of neurodevelopmental, behavioral, and emotional symptoms and respective pharmacotherapies of 70 patients with BMD.
Results: Fifty-four (77.1%) patients exhibited at least one symptom, and 19 (27.1%) patients exhibited four or more symptoms. The most prevalent symptoms were specific learning disabilities or special education needs (31.4%), inattention/hyperactivity (35.7%), language/speech delays (35.7%), and emotional or behavioral dysregulation (38.6%). Fisher's exact tests indicated that anxiety was more prevalent with mutations upstream of exon 30 (P = .049), but the prevalence of other symptoms did not differ with respect to mutation sites. Similarly, the number of symptoms individual patients with BMD exhibited did not differ with respect to mutation sites. Seventeen (24.3%) patients required pharmacotherapy to manage symptoms.
Discussion: Neurodevelopmental, behavioral, and emotional symptoms are prevalent in patients with BMD regardless of dystrophin gene mutation site.
Keywords: Becker muscular dystrophy; behavioral; cognitive impairment; dystrophin; emotional; fluoxetine; genetics; learning disabilities; neurodevelopmental; pharmacotherapy.
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Neurodevelopmental, behavioral, and emotional symptoms common in Duchenne muscular dystrophy.Muscle Nerve. 2020 Apr;61(4):466-474. doi: 10.1002/mus.26803. Epub 2020 Jan 21. Muscle Nerve. 2020. PMID: 31909820
Cognitive and psychological profile of males with Becker muscular dystrophy.J Child Neurol. 2008 Feb;23(2):155-62. doi: 10.1177/0883073807307975. Epub 2007 Dec 3. J Child Neurol. 2008. PMID: 18056690 Clinical Trial.
Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.Balkan J Med Genet. 2013 Jun;16(1):21-30. doi: 10.2478/bjmg-2013-0014. Balkan J Med Genet. 2013. PMID: 24265581 Free PMC article.
[Molecular genetics and problems found in genetic diagnosis of Duchenne Becker muscular dystrophy].Nihon Rinsho. 1997 Dec;55(12):3120-5. Nihon Rinsho. 1997. PMID: 9436421 Review. Japanese.
MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study.Genet Test Mol Biomarkers. 2019 Jul;23(7):468-472. doi: 10.1089/gtmb.2018.0262. Epub 2019 May 31. Genet Test Mol Biomarkers. 2019. PMID: 31157985 Review.
- Worton RG, Thompson MW. Genetics of Duchenne muscular dystrophy. Annu Rev Genet. 1988;22:601-629.
- Bushby KMD, Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. J Neurol. 1993;240(2):98-104.
- Koenig M, Beggs AH, Moyer M, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989;45(4):498-506.
- Flanigan KM, Dunn DM, von Niederhausern A, et al. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat. 2011;32(3):299-308. https://doi.org/10.1002/humu.21426.
- Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB. Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology. 1989;39(8):1011-1017.