title: Survey on genetic counseling and health management for symptomatic and asymptomatic female dystrophinopathy carriers in Japan today.
abstract: 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.
authors.affiliation: Department of Neurology, National Hospital Organization Akita National Hospital.
authors.forename: Michio
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ishizaki
authors.forename: Katsuhito
authors.initials: K
authors.lastname: Adachi
authors.forename: Naohiro
authors.initials: N
authors.lastname: Yonemoto
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Matsumura
authors.forename: Itaru
authors.initials: I
authors.lastname: Toyoshima
authors.forename: En
authors.initials: E
authors.lastname: Kimura
mesh_terms: D019468:Disease Management; D005260:Female; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D006579:Heterozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D020388:Muscular Dystrophy, Duchenne / Q000453:epidemiology* / Q000235:genetics*; D012306:Risk; D011795:Surveys and Questionnaires