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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.

A Japanese woman first noticed dysarthria at the age of 23. She visited a hospital at the age of 32 and was diagnosed as having myotonic dystrophy clinically. She was diagnosed genetically as having myotonic dystrophy type 1 at 47 years old with 160-270 CTG repeats on the DMPK gene. At the age of 48, she needed non-invasive positive pressure ventilation because of hypoxia at night. Her gait function also deteriorated. She could not stand up from the supine position by herself. However, when she stood, she could walk without a cane for a short distance. She was admitted to our hospital to receive rehabilitation against progressive gait disturbance at the age of 53. She received gait training with hybrid assistive limb ® (HAL ® ). We evaluated some parameters such as walking distance of 2-minute walk test (2MWT), gait speed /cadence/stride length of 10-meter walk test (10MWT), before and just after the course. The first course was performed in September 2017 and the second was done in May 2018 so the interval was about six months. After two courses of HAL ® gait training, the distance on the 2-minute walk test increased from 111 m to 154 m, the average speed and the cadence of 10MWT improved from 2.01 m/s to 2.78 m/s and from 2.21 steps/s to 3.05 steps/s respectively. The score of the muscular disability quality of life (QOL) rating scale was also improved. The factors including "defecation," "breathing," and "ADL" suggest that the patient's physical abilities improved and she could move easily. Other factors such as "hope", "activity" and "human relationship" suggest that patient's mood improved after the HAL ® training.It was suggested that HAL ® gait training could improve QOL as well as gait function in patients with progressive neuromuscular disorder.