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Table of Contents
Year : 2022  |  Volume : 5  |  Issue : 3  |  Page : 192-193

Tourette syndrome in Duchenne muscular dystrophy: A rare case

Department of Neurology, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India

Date of Submission27-Dec-2021
Date of Decision07-Apr-2022
Date of Acceptance21-Apr-2022
Date of Web Publication28-Jul-2022

Correspondence Address:
Dr. Abhijeet K Kohat
Department of Neurology, All India Institute of Medical Sciences, Bhopal - 462 020, Madhya Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/AOMD.AOMD_66_21

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Duchenne Muscular Dystrophy (DMD) is an X-linked recessive muscular dystrophy that presents in the first decade of life. Neurodevelopmental disorders are increasingly recognized features in DMD including autistic spectrum disorder, attention-deficit– hyperactivity disorder, and obsessive-compulsive disorder. The presence of Gilles De La Tourette Syndrome (GTS) in DMD patients is extremely rare. GTS in DMD patients supports the hypothesis that disruption of different dystrophin isoforms may play a role in brain development and function.

Keywords: Attention deficit hyperactivity disorder, Duchenne muscular dystrophy, Intellectual disability, Tics, Tourette syndrome

How to cite this article:
Jadhav N, Sharma A, Rai N, Dubey A, Kohat A. Tourette syndrome in Duchenne muscular dystrophy: A rare case. Ann Mov Disord 2022;5:192-3

How to cite this URL:
Jadhav N, Sharma A, Rai N, Dubey A, Kohat A. Tourette syndrome in Duchenne muscular dystrophy: A rare case. Ann Mov Disord [serial online] 2022 [cited 2023 Mar 23];5:192-3. Available from: https://www.aomd.in/text.asp?2022/5/3/0/352655

  Introduction Top

Duchenne muscular dystrophy (DMD) is an inherited multisystem disorder that primarily affects the skeletal and smooth muscles. It is an X-linked recessive genetic disorder caused by mutations in the dystrophin gene located on the Xp21.2 chromosome. Specific cognitive deficits are common in children with DMD. Chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome have been described in patients with DMD with minor Xp21 chromosome deletion.[1] The presence of Gilles de la Tourette syndrome (GTS) in patients with DMD is extremely rare, with only one case reported worldwide. Here, we report a case of DMD with GTS.

  Case Report Top

A 10-year-old boy presented to our neurology clinic with difficulty in walking and climbing stairs and frequent falls since the age of 4 years. He had proximal muscle weakness of all four limbs, and he lost ambulation at approximately 8 years of age. There was no history of consanguinity, and unremarkable family history. The patient’s parents had noticed that in the last 2 years he had lost interest in daily activities and exhibited patterned facial movements such as eye blinking, raising the eyebrows, head shaking, mouth opening, repeated smacking sound, and coughing; however, he was able to temporarily suppress these actions (Video 1 [Additional file 1]).

On examination the patient had impaired attention. There was profound wasting and weakness of the shoulder and pelvic girdle muscles. Contractures of bilateral ankle and hip joints were noted. He had multiple complex motor and vocal tics. The Yale Global Tic Severity Scale scores of motor and vocal tics were 21/25 and 14/25, respectively, and the total score was 65/100. The initial assessment using the NICHQ Vanderbilt Assessment Scales for attention deficit hyperactivity disorder (ADHD), as reported by his parents, revealed a total symptom score of 42 out of 54 for questions 1–18. These fulfilled the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, criteria for ADHD combined with oppositional defiant disorder. The patient had an intelligence quotient of 58 as assessed using the Developmental Screening Test, suggestive of mild intellectual disability. In addition, he had a social age of 7 years and 3 months as observed on the Vineland Social Maturity Scale. His serum creatine kinase level was 2171 units/L. Instrumental analyses including blood count, electrocardiography, ocular fundus, cranial magnetic resonance imaging, and 2D echocardiography were normal. Analysis of the Xp21.2 dystrophin gene using the multiplex ligation-dependent probe amplification technique revealed the deletion of exons 49 and 50; confirming the diagnosis of DMD. The patient fulfilled the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, criteria for GTS. He was treated with haloperidol at a dose of 2 mg/day. At 4 weeks, the patient did not show any remarkable improvement.

  Discussion Top

Though our patient was suffering from DMD, he had in addition GTS, mild intellectual disability and ADHD. The large dystrophin gene contains 79 exons along with seven promoters, which generate a range of different protein isoforms with diverse expression in cortical neurons, skeletal and cardiac muscles, Purkinje cells, Schwan cells, the retina, and kidneys. Patients with mutations downstream of exon 30 appear to be at an increased risk of developing comorbid neurodevelopmental, behavioral, and emotional difficulties.[2] Autistic spectrum disorder has been reported in up to 19% of the patients, ADHD in up to 31% of the patients, and obsessive-compulsive disorder in up to 5% of patients with DMD.[3] Tourette syndrome is a heterogeneous disorder with complex inheritance patterns and phenotypic manifestations. In addition, the abovementioned neuropsychiatric disorders are common comorbidities in most patients with Tourette syndrome. The prevalence of chronic motor and vocal tics ranges from 2.8% to 5.2% in the literature.[4] Although behavioral and neuropsychiatric involvement is commonly observed in DMD and motor/vocal tics have been described, the chance association of DMD and Tourette syndrome cannot be ruled out. The presence of low intelligence quotient, ADHD, and oppositional defiant disorder in our patient with deletion of exons 49 and 50 in the dystrophin gene is in agreement with earlier studies that have shown greater neuropsychiatric and intellectual impairments in patients with DMD, with mutations towards the 3′ end of the DMD gene. However, the presence of Tourette syndrome in dystrophinopathies is rarely described.[5]

  Conclusion Top

To the best of our knowledge, ours is the first case report describing the presence of Tourette syndrome in patients with DMD with deletion of exons 49 and 50. Moreover, the presence of Tourette syndrome in our case widens the ambit of “neuropsychiatric DMD.” However, the chance association of DMD and Tourette syndrome cannot be ruled out.



Author contribution

Concept – Dr Nikhil Jadhav

Design – Dr Nirendra Rai

Manuscript preparation/ editing – Dr Abhijeet Kumar Kohat

Literature search – Dr Ayush Dubey

Manuscript Review – Dr Agrata Sharma

Ethical compliance statement

This study involving then human subjects were in accordance with the ethical standards of institutional/national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent was obtained from the subject participating in the study.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Distèche C, et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 1985;37:250-67.  Back to cited text no. 1
Ricotti V, Mandy WP, Scoto M, Pane M, Deconink N, Messina S, et al. Neurodevelopmental, emotional, and behavioral problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol 2016;58:77‐84.  Back to cited text no. 2
Lorusso ML, Civati F, Molteni M, Turconi AC, Bresolin N, D’Angelo MG Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne muscular dystrophy. Child Neuropsychol 2013;19:350-69.  Back to cited text no. 3
Darmahkasih AJ, Rybalsky I, Tian C, Shellenbarger KC, Horn PS, Lambert JT, et al. Neurodevelopmental, behavioral, and emotional symptoms common in Duchenne muscular dystrophy. Muscle Nerve 2020;61:466‐74.  Back to cited text no. 4
Lewis JA, Bertorini TE Duchenne muscular dystrophy and Tourette syndrome. Neurology 1982;32:329. doi: 10.1212/wnl.32.3.329-a.  Back to cited text no. 5


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