ニューロリハビリテーションの国際ジャーナル

Mental Problems in Cases with Duchenne Muscular Dystrophy Mutation: Not Only Males, but also Females

Abstract

Misako Kaido

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