Rinsho Shinkeigaku (Clinical Neurology)

Original Article

Study of medical practices for patients with myotonic dystrophy in Japan
-Nationwide specialist survey

Tsuyoshi Matsumura, M.D., Ph.D.1), Hiroto Takada, M.D., Ph.D.2), Keiko Ishigaki, M.D., Ph.D.3), Hirofumi Komaki, M.D., Ph.D.4) and Masanori P. Takahashi, M.D., Ph.D.5)

1)Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center
2)Department of Neurology, National Hospital Organization Aomori National Hospital
3)Department of Pediatrics, Tokyo Womanfs Medical University Hospital
4)Translational Medical Center, National Center of Neurology and Psychiatry
5)Division of Health Science, Osaka University Graduate School of Medicine

To reveal current status of medical practice, we made a nationwide self-questionnaire survey to Japanese certified Neurologists and Child Neurologists. Most specialists seeing patients with myotonic dystrophy (DM) were aware that genetic analysis is approved in health insurance. The ratio of pre-explanation about genetic analysis was also high however written informed consent was not always obtained. Over 60% of specialists regarded motor dysfunction, conduction block/arrhythmia, heart failure, dysphagia, hypoventilation as important complications, while no more than 35% of specialists regarded hypoxia/apnea, multi-organ complications, which are feature of myotonic dystrophy, as important. Over half specialists did not check Holter electrocardiogram, sleep respiratory examination, or swallowing function regularly. This fact implied that cumbersome examinations tended to be refrained from regular assessment. Child neurologists were more aggressive in respiratory care and consultation of cardiovascular specialists. A few neurologists hesitated to introduce mechanical ventilation and tube feeding.
Supplementary document
Original Questionnaire (Japanese)
Full Text of this Article in Japanese PDF (1837K)

(CLINICA NEUROL, 60: 120|129, 2020)
key words: myotonic dystrophy, status of medical practice, questionnaire survey, Neurologist, Child Neurologist

(Received: 16-Jul-19)