Clinical Features of the Central Nervous System

  • Haruo FujinoEmail author
  • Shugo Suwazono
  • Yuhei Takado


Progressive muscular weakness is a typical symptom of myotonic dystrophy, but more recently, central nervous system (CNS) involvement has become a critical issue in the disorder. Recent studies have suggested the importance of cerebral involvement in myotonic dystrophy, which influences patients’ quality of life and functioning. CNS dysfunction in myotonic dystrophy has been investigated using various approaches, including cognitive (neuropsychological), neurophysiological, and neuroimaging studies. Studies have suggested that cognitive impairment in the disorder is variable, but several domains of cognition are frequently affected. Neurophysiological studies have examined the pathomechanisms of the disorder using various electrophysiological methods and modalities, such as somatosensory, visual, and auditory. Neuroimaging studies using different techniques have demonstrated that both white and gray matter of the brain are involved in the pathomechanisms of the disorder. Further accumulation of knowledge about the CNS involvement in myotonic dystrophy is required. Future possible directions of research are also discussed from each aspect in this chapter.


Myotonic dystrophy Central nervous system Brain Cognitive impairment Evoked potentials Event-related potentials Channelopathies Hyperexcitability Magnetic resonance imaging Positron emission tomography 



This work was partly supported by grants from the Ministry of Health, Labour and Welfare of Japan (H28-Nanchitou(Nan)-Ippan-030), JSPS KAKENHI (16K09733 and 17K14067), and Japan Agency for Medical Research and Development (AMED) (17ek0109259).


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© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  1. 1.Department of Special Needs EducationOita UniversityOitaJapan
  2. 2.Department of Neurology and Center for Clinical NeuroscienceNational Hospital Organization Okinawa HospitalOkinawaJapan
  3. 3.Department of Functional Brain Imaging ResearchNational Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and TechnologyChibaJapan

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