Duchhene muscular dystrophy: looking to beyond the muscle from a case series

*Correspondence: [e-mail].

Abstract

Background: Duchenne Muscular Dystrophy (DMD) is an X-linked dystrophinopathy, caused by a mutation in the dystrophin gene, which results in limited production or absence of this protein, whose main function is to protect the muscle fibers during its contraction. This deficiency leads to loss of membrane integrity, with muscle rupture and fatty degeneration. Patients with DMD had changes in muscle strength, Gowers sign, and also symptoms in other organs. There is a higher prevalence of neuropsychiatric disorders in this group of people. Our series of patients was selected to bring light into this discussion.

Objective: To discuss extra muscular symptoms related to DMD.

Methods: Case series study with nonsystematic literature review.

Results: Case #1: a 3-year-old patient, referred with suspected autism spectrum disorder (ASD) with borderline motor development, the CPK requested as part of the etiological assessment was 4892. The MLPA Study showed deletion 45-50. Nowadays this boy is 4 years old, and ASD was confirmed. Case #2: a 3-year-old patient with muscle weakness and CPK of 4320. MLPA study with intronic mutation. He lost gait at age 13 and then began to show symptoms of hallucinations and depression, followed by bipolar disorder (BD). Currently he is 19 years old and also attends to the psychiatric clinic.

Conclusion: The cognitive abnormalities observed in people with DMD are well discussed. Conversely, behavioral abnormalities is still a matter with much discussion. The prevalence of ASD in this population is higher, as well as BD, Attetion Deficit Hyperactive Disorder (ADHD) and obsessive-compulsive disorder (OCD). A recent meta-analysis showed that these findings were more common in ADHD and OCD. Our series highlights the need of care to people with DMD and also remember us to pay more attention to extra muscular problems, once they directly interfere with the quality of life of patients and their families.

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Artikel online veröffentlicht:
12. Mai 2025