OCD in Duchenne Muscular Dystrophy Features Distinct Phenotype, Associated Symptoms

Investigators aim to facilitate early recognition and consideration for patients with Duchenne muscular dystrophy and internalizing psychiatric symptoms.

Obsessive compulsive disorder (OCD) is a somewhat prevalent psychiatric disorder in patients with Duchenne and Becker muscular dystrophy and is hallmarked by symptoms of anxiety, familial impact, and general lack of psychiatric treatment, according to a study published in the Journal of Child Neurology.

A retrospective chart review of 107 men with Duchenne muscular dystrophy was performed. Investigators identified a total of 39 patients with internalizing symptoms. Of these, 15 were men who had OCD spectrum symptoms based on clinical neuromuscular and psychiatric notes. Of the patients who had symptoms of OCD, 11 had coexisting symptoms of anxiety and 1 had depressive symptoms. The study researchers sought to determine the effect of OCD on patients and their families and to study treatment response.

The mean age at OCD onset was 12.1±6.0 years (range 5-23 years). Psychiatric evaluations were performed for 9 patients, and the remaining patients received evaluation/treatment by their primary care provider. Although all patients received recommendations for psychotherapy, only 5 patients with symptoms of the disorder were receiving routine treatment by a psychiatrist or therapist. The majority of patients (n=14) received treatment with a selective serotonin reuptake inhibitor, with 10 patients reporting a favorable response to pharmacotherapy.

Treatments for these patients included fluoxetine, sertraline, citalopram, escitalopram, paroxetine, and clonazepam. Researchers highlighted 3 cases, with ages at onset ranging from 4 to 6 years. Symptoms of OCD were first noticed by patients’ parents in all cases. The disorder also affected families’ schedules and life quality because of the patients’ symptoms of irritability and distress. Symptoms continued to worsen as the patient grew older; however, medical therapy resulted in consistent improvement over time.

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The retrospective nature of this study as well as the lack of data on formal Diagnostic and Statistical Manual of Mental Disorders diagnoses represents the study’s primary limitations.

Researcher wrote that, “the frequency of [OCD] spectrum symptoms with or without symptoms of anxiety can be disabling for patients and very disruptive for the family.” Investigators also suggest that the “screening for internalizing disorders and recognition of the constellation of [OCD] and anxiety, highlighted here, is integral to appropriate management of patients with Duchenne muscular dystrophy.”


Lee AJ, Buckingham ET, Kauer AJ, Mathews KD. Descriptive phenotype of obsessive compulsive symptoms in males with Duchenne muscular dystrophy. J Child Neurol. 2018;33(9):572-579.