Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy

Abstract

Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred and nine caregivers of affected males (aged 3–31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The five most commonly reported conditions in males with Duchenne were cognitive deficits (38.4%), constipation (31.7%), anxiety (29.3%), depression (27.4%), and obesity (19.5%). Higher frequencies of anxiety, depression, and kidney stones, were found among non-ambulatory males compared to ambulatory males. Attention deficit hyperactivity disorder was more common in ambulatory than non-ambulatory males. These data support clinical care recommendations for monitoring of patients with Duchenne or Becker muscular dystrophy by a multidisciplinary team to prevent and treat conditions that may be secondary to the diagnosis.

Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene

“…Although severe muscle damage in DMD may mask abnormalities in peripheral neurons, patients with DMD were shown to have abnormal tibial somatosensory evoked potentials [33]. Deficiency of Dp116 in peripheral nerve tissue may induce sensory impairment, inhibiting gastro-intestinal transport; however, gastro-intestinal symptoms have been underreported by some DMD patients with a variety of severe symptoms [34][35][36]. DMD patients with Dp116 deficiency did not show overt peripheral neuropathy [37][38][39][40].…”

“…A survey of complications in over 200 DMD patients found that the five most commonly reported conditions were cognitive deficits, constipation, anxiety problems, depression, and obesity [35]. Neuropsychiatric problems, such as attention-deficient/hyperactivity disorder (ADHD) and autism spectrum disorder, were also reported.…”

“…Neuropsychiatric problems, such as attention-deficient/hyperactivity disorder (ADHD) and autism spectrum disorder, were also reported. Conditions with an incidence less than 7% included cancer, cerebral palsy, pseudo tumor cerebri, thrombosis, epilepsy, diabetes, gall stones and inflammatory bowel disease [35].…”

Dystrophin is expressed in smooth muscle and afferent nerve fibers in the rat urinary bladder

“…Although DMD is characterized by progressive muscle weakness, it is not solely a muscle disorder. Physical (i.e., genitourinary and gastrointestinal) as well as mental (i.e., cognitive and behavioral) comorbidities have been reported . Because of improved care, the life expectancy of patients has increased significantly over the past few decades .…”

“…Physical (i.e., genitourinary and gastrointestinal) as well as mental (i.e., cognitive and behavioral) comorbidities have been reported. 2 Because of improved care, the life expectancy of patients has increased significantly over the past few decades. 3 As a result, comorbidities such as lower urinary tract symptoms (LUTS) are now becoming clinically significant.…”