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Journal of the Korean Academy of Rehabilitation Medicine 1993;17(1):134-139.
Myotonia dystrophica: case report of 1 family.
Lee, Jong Ha , Kim, Hee Sang , Ahn, Kyung Hoi
Department of Rehabilitation Medicine, Kyung Hee University College of Medicine
근긴장성 이영양증 가족 1례에 대한 보고
이종하, 김희상, 안경회
경희대학교 의과대학 재활의학교실

Myotonia dystrophica, described first in 1909 by Steinert, is a multisystemic disorder inherited as a dominant trait.

In addition to generalized weakness, gait disturbance and myotonia, the clinical features include prominent facial weakness, mild limb weakness, swan-line neck posture, frontal baldness, cataract, infertility, abnormal ECG finding, dysphagia, recurrent pulmonary infection, megacolon, hypersomnia, hypothyroidism, abnormal glucose and insulin metabolism, and mental defect.

We present here the clinical features, EMG, muscle biopsy, and other laboratory findings of two patients of one family who have adult onset myotonia dystrophica.

Key Words: Myotonia dystrophica, Myotonia


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