Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan

Abstract

Objective This study attempted to clarify the current status of female dystrophinopathy carriers, including the numbers of patients, the status of genetic screening, the status of counseling, physicians' understanding, and barriers to registration. Methods We sent out questionnaires to 402 physicians registered in the Remudy dystrophinopathy registry. The total number of responses received was 130 (response rate: 32%). Result In total, 1,212 cases of Duchenne muscular dystrophy, 365 cases of Becker muscular dystrophy, and 132 cases of female dystrophinopathy with a confirmed genetic mutation were encountered, and genetic testing was performed in the mother in 137, 23, and 12 cases, respectively. With respect to the risk of the onset of health problems, 25% of physicians always explained, 29% usually explained, 29% sometimes explained, and 13% never explained the risk to the mothers and female siblings of dystrophinopathy patients. The most common reason for not explaining the risk was a lack of knowledge/information. Thirty-five percent were familiar with the guidelines for testing the heart function of carriers. Conclusion Fewer mothers of dystrophinopathy patients have undergone genetic testing in Japan than in other countries. A significant portion of doctors did not explain the risks of health problems due to a lack of knowledge. We hope this survey will lead to an increased discussion of female dystrophinopathy patients.

Caregiver Burden with Duchenne and Becker Muscular Dystrophy in Japan: A Clinical Observation Study

“…Twelve caregivers were diagnosed as carriers by a genetic analysis, and one caregiver showed no mutation. Kobayashi et al reported that the reasons for fewer gene examinations in Japan are conservative attitudes toward genetic testing and an insufficient explanation of the risk of the onset by clinicians due to a lack of knowledge/information ( 11 ). Thus, it has been extremely difficult to conduct clinical studies in this area.…”

“…In a previous report that analyzed 7 large studies, the prevalence of skeletal muscle damage in female dystrophinopathy carriers was 2.5-19%, and that of dilated cardiomyopathy was 7.3-16.7% for DMD and 0-13.3% for BMD patients ( 10 ). In particular, genetic testing of carriers is not often performed in Japan because of the complex ethical and social problems associated with hereditary diseases ( 11 ). Therefore, individuals who are undiagnosed carriers with clinical symptoms often care for dystrophinopathy patients.…”

Rapidly Progressive Heart Failure in a Female Carrier of Becker Muscular Dystrophy with No Skeletal Muscle Symptoms

“…A recent report from Japan's national registry for hereditary muscular disorders identified 130 female dystrophinopathy patients with some sort of genetic mutation (4). However, the genetic screening rate was estimated to be 6-11%, which was far lower than the 67-95% rate in European countries.…”

“…However, relatively little attention has been paid to cardiac involvement in female BMD carriers, in whom the disease progresses in a similar manner to that in men. This lack of attention is reflected by the lower rate of genetic screening in Japan than in other countries (4). In addition, the cardiac involvement in female BMD carriers is less symptomatic than male BMD patients (5), and the disease progression has not been well documented.…”