Psychosomatics 48:167-169, March-April 2007
doi: 10.1176/appi.psy.48.2.167
© 2007 Academy of Psychosomatic Medicine
Treatment of Psychiatric Comorbidities in a Patient With Becker Muscular Dystrophy
Kaisorn L. Chaichana, B.S.,
Angela L.H. Buffington, Ph.D.,
Mina Brandes, M.D.,
David Edwin, Ph.D., and
Hochang B. Lee, M.D.
Received December 13, 2005; revised December 22, 2005; accepted January 13, 2006. From the Dept. of Neuropsychiatry, Johns Hopkins University School of Medicine, Baltimore, MD. Send correspondence and reprint requests to Hochang B. Lee, M.D., Dept. of Neuropsychiatry, Johns Hopkins University School of Medicine, Baltimore, MD. e-mail: hochang{at}jhmi.edu
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INTRODUCTION
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Although the association between Becker muscular dystrophy (BMD) and muscle deterioration is known,1 the connection between BMD and psychiatric disorders is less clear. BMD is caused by a mutation in the dystrophin gene, causing translation of abnormal but functional dystrophin, a major component of the muscle subsarcolemmal cytoskeleton. This mutation leads to progressive voluntary muscle wasting and weakness. However, the clinical significance of the fact that dystrophin is also expressed in the cerebral cortex as part of the neuronal postsynaptic apparatus is less clear. The literature is limited, but some studies have reported an association between cognitive impairment and dystrophin deficiencies.2–6 Also, one study has reported an increased prevalence of depression among patients with BMD,4 and other studies have described the co-segregation of BMD and schizophrenia.7,8
As a result of this association between BMD and psychiatric disorders, many patients with BMD will require a combination of medical, neurologic, and psychiatric management. The purpose of this report is to illustrate the usefulness of combined pharmacotherapy and behavioral therapy, guided by neuropsychological assessment, for treatment of a complicated patient with BMD and psychiatric comorbidities.
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Case Report
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"Mr. GS" is a 35-year-old white man with BMD and recurrent depression, who was referred to the emergency department at the Johns Hopkins Hospital (JHH) in December 2004 by his nursing home. The nursing home staff was alarmed by his "increasingly odd behavior" related to his somatic complaints about BMD. He complained of severe, globally diffuse muscle pains and believed his muscles were "decaying" with use. Despite his normal swallowing, he reportedly ruminated about his eventual need for a percutaneous endoscopic gastrostomy (PEG) tube and was observed fidgeting with some residents’ PEG tubes. He was also noted to have severe and persistent depressive symptoms, including a chronically irritable mood, ruminative thoughts about death, and loss of energy and interest. He was voluntarily admitted for inpatient neuropsychiatric evaluation and treatment.
Developmentally, the patient had had an unremarkable birth and childhood. He graduated from high school, receiving special-education services for difficulties with reading and writing. His employment history is limited, but he had most recently worked part-time as a janitor. At the age of 18, he had developed progressive weakness in his proximal muscles, leading to the diagnosis of BMD, which was confirmed by muscle biopsy. Around this time, his family noted his low mood, decreased energy, early morning awakening, and persistent rumination about dying.
GS’s first inpatient psychiatric admission was in 1990. He was diagnosed with major depression with psychotic features, treated with fluoxetine and risperidone, and discharged after 1 week. He was readmitted for 3 days to the same hospital in 2000 for treatment of depression with suicidal thoughts, and he was discharged on sertraline and risperidone. Over the ensuing months, GS became increasingly preoccupied with his physical symptoms and ruminated about paralysis and dying despite assurance from his neurologist that progression of his BMD had been relatively slow. In early 2004, he was readmitted and treated with citalopram, nortriptyline, and trazadone. Although his suicidal thoughts dissipated, his mood remained irritable, and his energy level remained low. Furthermore, his preoccupation about the severity of his BMD symptoms became increasingly irrational and bizarre in content, prompting this referral.
At his recent admission, GS’s mental status exam revealed an alert, attentive white man. He was irritable and uncooperative. His speech was of normal rhythm and rate, and he had poor articulation as he voluntarily mumbled to avoid the use of his jaw muscles because of his fear of accelerating muscle deterioration. He described his mood as "down," and his affect was dysphoric and irritable. His self-attitude was diminished, and he reported a passive death-wish, but denied any suicidal or violent thoughts. He was anergic and complained of decreased concentration. He did not endorse any delusion, but did express concern that any amount of activity would deteriorate his muscles. No hallucinations, obsessions, compulsions, or phobias were elicited. On Mini-Mental State Exam, his effort appeared to be poor, and he scored 23/30, missing 1 point for orientation, 2 points for serial-7 subtractions, 3 points for word recall, and 1 point for sentence writing. His Montgomery-Asberg Depression Rating Scale (MADRS) score was 26/60.
His physical exam was consistent with BMD. It was only remarkable for 3 out of 5 strength throughout and proximal muscle weakness evidenced by Gower’s sign where he began with his feet and hands on the floor and moved his hands up his legs until he was upright. His lab values were unremarkable except for an elevated creatine kinase level of 872 IU/liter, ALT of 134 IU/liter, and AST of 80 IU/liter, again consistent with BMD.
Initially, GS was formulated as having Major Depressive Disorder With Psychotic Features because his somatic complaints seemed bizarre, and he was therefore started on aripiprazole. However, further behavioral observation cast doubt on this formulation. He would argue with physicians, including his neurologist, about the pathophysiology and severity of his condition by quoting various support-group brochures. Eventually, he refused to speak for fear of causing muscle deterioration with his verbalization, but, instead, hand-gestured wildly about his concerns. He would also carry personally written stationery listing his somatic complaints. The treatment team then felt his complaints were more consistent with "overvalued ideas" and hysterical behavior rather than true psychosis. He appeared to be attention-seeking, and his somatic complaints appeared to be increasingly bizarre. Aripiprazole was then stopped.
On the basis of the revised formulation, the treatment team concluded that, in addition to pharmacotherapy, behavioral therapy was warranted as a primary method of treatment. To help guide this therapeutic approach, a neuropsychological evaluation was conducted to gain additional insight into his cognitive functioning and personality. This examination revealed that he was of average intelligence (WAIS III Full-Scale IQ: 94). His high Verbal Comprehension score (63rd percentile) suggested that his capacity to understand verbal information was a strength, but was significantly limited by sub-average Working Memory (5th percentile) and Processing Speed (4th percentile). His ability to comprehend written material was at the 9th-grade level, but his ability to write was at the 2nd-grade level. Personality testing suggested that behavior modification include having staff avoid daily discussions about BMD and terminating interactions with him whenever he began arguing about the severity of his condition. The treatment team ignored his hand gestures and only responded to clear verbal requests. Positive behaviors, such as complying with physical therapy, were rewarded with individual attention. For the pharmacological component, duloxetine was started and titrated up to 60 mg qd. Duloxetine was chosen for its potential efficacy in treating both depression and neuropathic pain.9 Trazadone 50 mg qd was added for insomnia and adjunctive depression therapy.
After 18 days of inpatient psychiatric hospitalization, GS was discharged to a physical rehabilitation facility, where the behavior modification plan was continued. His discharge diagnosis was Major Depressive Disorder: Recurrent; Pain Disorder Associated With Psychological Factors and a General-Medical Condition; and Cluster B Personality Traits. At the time of discharge, he no longer complained of depressive symptoms or pain, and his MADRS score decreased from 26 to 10. He continued to be somewhat cantankerous and was attention-seeking at times, but was far more cooperative with staff.
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Discussion
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Since there is evidence of an association between BMD and psychiatric disorders,4,7,8 this case underscores important issues related to the diagnosis and management of psychiatric disorders associated with BMD. First, patients with BMD should be carefully evaluated for psychiatric symptoms, particularly depression. The behavioral manifestations of depression, specifically, amotivation, anergia, and anhedonia, can lead to inactivity and can interfere with physical therapy, accelerating muscle deterioration. Second, detailed assessment of cognitive disabilities can guide diagnostic formulation and treatment-planning. GS’s cognitive impairment limited his coping skills for daily events, which, along the chronic stress imposed by BMD, may have contributed to his maladaptive behaviors. In order to compensate for his slow processing speed, we presented information in a slow, simplified manner. Information was also written and verbally repeated to compensate for his poor working memory. Also, quantification of GS’s unstable personality was helpful in guiding behavioral management of the bizarre behaviors that had been previously characterized as psychotic. The high level of neuroticism (88th percentile) detected on the NEO Five-Factor Inventory supported the behavioral formulation of his odd behaviors and allowed the treatment team to withhold neuroleptic medication that might have caused extrapyramidal side effects in this neurologically vulnerable patient.
Duloxetine was the pharmacotherapy of choice. Duloxetine is indicated by the Food and Drug Administration for the treatment of diabetic neuropathy,9 but not specifically for myalgia associated with muscular dystrophy. The mechanism behind myalgia in BMD is different from that of diabetic neuropathy. Nevertheless, in this case, duloxetine proved be a useful option for treating comorbid depression and chronic myalgia in this BMD patient.
Certainly, in this case, coupling a consistent behavior-modification approach and pharmacotherapy via duloxetine appears to have resulted in a successful outcome.
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REFERENCES
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- Emery AE: Muscular dystrophy into the new millennium. Neuromuscul Disord 2002; 12:343–349[CrossRef][Medline]
- North KN, Miller G, Iannaccone ST, et al: Cognitive dysfunction as the major presenting feature of Becker’s muscular dystrophy. Neurology 1996; 46:461–464[Abstract/Free Full Text]
- Karagan NJ, Sorensen JP: Intellectual functioning in non-Duchenne muscular dystrophy. Neurology 1981; 31:452–458[Abstract/Free Full Text]
- Melo M, Lauriano V, Gentil V, et al: Becker and limb-girdle muscular dystrophies: a psychiatric and intellectual-level comparative study. Am J Med Genet 1995; 60:33–38[CrossRef][Medline]
- Florencia G, Veronica F, Viviana D, et al: Dystrophin deletion and cognitive impairment in Duchenne/Becker muscular dystrophy. Neurol Res 2004; 26:83–87[CrossRef][Medline]
- Bardona A, Sironi M, Felisari G, et al: Absence of brain Dp-140 isoform and cognitive impairment in Becker muscular dystrophy. Lancet 1999; 353:897–898[Medline]
- Zatz M, Vallada H, Melo MS, et al: Co-segregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp-21 or an effect of the dystrophin gene in the brain? J Med Genet 1993; 30:131–134[Abstract/Free Full Text]
- Lindor NM, Sobell JL, Heston LL, et al: Screening the dystrophin gene suggests a high rate of polymorphisms in general but no exonic deletions in schizophrenics. Am J Genet 1994; 54:1–4[CrossRef]
- Kirwin JL, Goren JL: Duloxetine: a dual serotonin-norepinephrine reuptake inhibitor for treatment of major depressive disorder. Pharmacotherapy 2005; 25:396–410[CrossRef][Medline]
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INTRODUCTION
Case Report
