Rinsho Shinkeigaku (Clinical Neurology)

Original Article

Survey on genetic counseling and health management for symptomatic and asymptomatic female dystrophinopathy carriers in Japan today

Michio Kobayashi, M.D., Ph.D.1), Masatoshi Ishizaki, M.D., Ph.D.2), Katsuhito Adachi, M.D., Ph.D.3), Naohiro Yonemoto, M.P.H.4), Tsuyoshi Matsumura, M.D., Ph.D.5), Itaru Toyoshima, M.D., Ph.D.1) and En Kimura, M.D., Ph.D.4)

1)Department of Neurology, National Hospital Organization Akita National Hospital
2)Department of Neurology, National Hospital Organization Kumamoto Saishunso National Hospital
3)Department of Neurology, National Hospital Organization Tokushima National Hospital
4)National Center of Neurology and Psychiatry
5)Department of Neurology, National Hospital Organization Toneyama National Hospital

To clarify the current status of genetic counseling and health monitoring for symptomatic and asymptomatic female carriers of dystrophinopathy (Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)), we sent out questionnaires to 104 member institutions of The Japan's National Liaison Council for Clinical Sections of Medical Genetics, and responses were received from 51 institutions. Between April 2013 and March 2014, 57 carriers at 21 institutions received genetic counseling, and 37 carriers at 15 institutions underwent genetic screening for DMD/BMD mutations. At the 23 institutions that gave genetic counseling, 20 (87%) informed carriers of possible health problems, 14 (61%) informed carriers of cardiomyopathy and heart failure, and 14 (61%) advised carriers about regular medical checkups. Evidence based on accurate and up-to-date epidemiological studies of female carriers is needed and should be widely shared with the families, medical providers, and society.
Full Text of this Article in Japanese PDF (525K)

(CLINICA NEUROL, 56: 407|412, 2016)
key words: Duchenne muscular dystrophy, carrier, genetic counseling, genetic diagnosis, health management

(Received: 6-Jan-16)