Clinical Features of the Central Nervous System

Abstract

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.