Key result
Female carriers of Duchenne muscular dystrophy mutations are at risk for mental disorders and cognitive impairment, which can be easily overlooked due to a wide variety of clinical symptoms.
Why the study?
Mental disorders in female carriers of Duchenne muscular dystrophy mutations can be easily overlooked, necessitating close attention for correct diagnosis.
Highlights the importance of recognizing and diagnosing mental and neurodevelopmental disorders in both male patients and female carriers of Duchenne muscular dystrophy mutations.
Clinicians should screen female DMD carriers for overlooked cognitive and psychiatric issues; leaves open need for prospective validation.
Dystrophin, the pathogenic variants of which can cause muscular diseases, is a protein mainly distributed under the sarcolemma. However, the protein also exists in the central nervous system and many reports have described neural comorbidities in patients with dystrophinopathy. Duchenne muscular dystrophy (DMD) has been described as being associated with neurodevelopmental disorders, including intellectual developmental disorders, communication disorders, autism spectrum disorders, and attention deficit/hyperactivity disorders. Patients with dystrophinopathy have also been reported to have depression, anxiety, or obsessive-compulsive disorders. Female carriers of DMD mutations exhibit a wide variety of clinical features from asymptomatic high serum creatine kinase level to severe muscle weakness or dilated cardiomyopathy, and mental disorders including cognitive impairment. Since the mental disorders in female carriers of DMD mutations can be easily overlooked, it is necessary to pay close attention for correct diagnosis
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Misako Kaido (2019) conducted an editorial in Duchenne muscular dystrophy (DMD) mutation. DMD mutation was evaluated on Mental disorders and cognitive impairment. Female carriers of Duchenne muscular dystrophy mutations are at risk for mental disorders and cognitive impairment, which can be easily overlooked due to a wide variety of clinical symptoms.
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