Rinsho Shinkeigaku (Clinical Neurology)

Original Article

Questionnaire surveys of clinical genetic specialists on the medical genetics for patients with myotonic dystrophy type 1

Tsuyoshi Matsumura, Ph.D., M.D.1j, Yoshika Akizawa, Ph.D., M.D.2j, Keiko Ishigaki, Ph.D., M.D.3j, Masanori P. Takahashi, Ph.D., M.D.4j

1) Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center
2) Department of Obstetrics and Gynecology, Tokyo Women's Medical University
3) Department of Pediatrics, Tokyo Women's University
4) Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine

We conducted nationwide questionnaire surveys of medical genetics for patients with myotonic dystrophy type 1 to certified medical geneticists. Explanations about the patient's problems were influenced by geneticist's specialties and central nervous system disorders. Many geneticists answered that male patients are also eligible for prenatal/preimplantation genetic diagnosis, and they perform prenatal genetic diagnosis for men if asked. About 40% of respondents answered that criteria for preimplantation genetic diagnosis should be relaxed. Thus, we investigated the implementation status of prenatal/preimplantation genetic diagnosis at the participating facilities of the national liaison council for clinical sections of medical genetics. No facility had an experience of prenatal/preimplantation genetic diagnosis for male patients. Still, one facility was applying for preimplantation genetic diagnosis. The social consensus of reproductive medicine is influenced by technological progress and historical background. It is essential to eliminate the eugenic's idea and form a social consensus through sufficient discussions with participants from many areas, including the patients and their families.
Supplementary data
Survey on genetic diagnosis of myotonic dystrophy type 1
Survey on prenatal diagnosis and preimplantation genetic diagnosis of dystrophia myotonica type 1 (DM1)
Profile of myotonic dystrophy type 1 experience in each specialty of respondents
Surveyed institutes

Full Text of this Article in Japanese PDF (3885K)

(CLINICA NEUROL, 61: 602|612, 2021)
key words: myotonic dystrophy type 1, medical genetics, clinical genetic specialist, prenatal diagnosis, preimplantation genetic testing

(Received: 16-Feb-21)