Female carrier with DMD mutation manifesting only asymptomatic hyperCKemia and psychiatric problems

Abstract

We report the case of a 64‐year‐old woman with dystrophinopathy exhibiting asymptomatic hyperCKemia and psychiatric symptoms only. Since adolescence, she had experienced communication difficulties and anxiety neurosis, which kept her unemployed and once led her to attempt suicide. Her full intelligence quotient was 89, with relatively low scores in processing speed and working memory, because of attention/concentration deficit or obsession. She has a nephew with severe dystrophinopathy, and both of them had duplication of exon 44 of the DMD gene, encoding dystrophin. Her mother became wheelchair user at age 60, and was suspected to have some psychiatric problems since she neglected her own ailing child. The cognitive and mental states of women with dystrophinopathy should be paid more attention to since such problems may manifest due to dystrophin deficit.