Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Feb;61(2):156-162.
doi: 10.1002/mus.26750. Epub 2019 Nov 6.

Neurodevelopmental, behavioral, and emotional symptoms in Becker muscular dystrophy

Joshua T Lambert  1 , Andrew J Darmahkasih  2 , Paul S Horn  3 , Irina Rybalsky  1 , Karen C Shellenbarger  4 , Cuixia Tian  3 , Brenda L Wong  4
Affiliations

Neurodevelopmental, behavioral, and emotional symptoms in Becker muscular dystrophy

Joshua T Lambert et al. Muscle Nerve. 2020 Feb.

Abstract

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.

PubMed Disclaimer

Comment in

References

REFERENCES

    1. Worton RG, Thompson MW. Genetics of Duchenne muscular dystrophy. Annu Rev Genet. 1988;22:601-629.
    1. Bushby KMD, Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. J Neurol. 1993;240(2):98-104.
    1. 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.
    1. 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.
    1. 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.

MeSH terms

LinkOut - more resources