＜シンポジウム（3）―5―4＞神経内科医にとっての筋強直性ジストロフィー診療上の盲点
2型筋強直性ジストロフィー
木村 隆
国立病院機構旭川医療センター脳神経内科〔〒070―8644 旭川市花咲町7丁目4048番地〕
Myotonic dystrophies (DMs) are autosomal dominant disorders with multisystemic clinical features. DMs are categorized as DM1, caused by a (CTG)n expansion mutation in 19q13, and DM2, caused by a (CCTG)n expansion mutation in 3q21. Clinical feature of DM2 are diffuse and proximal dominant weakness, wasting, myotonia, cardiac problems, cataracts, insulin-resistance. DM2 is considered to milder form than DM1. Here We compared clinical feature in both DMs. We identified a Japanese patient with DM2 and showed clinical features same as a past report. But DM2 is clinically variable, further investigation of Japanese patients is needed in order to confirm these findings in Japan.
Full Text of this Article in Japanese PDF (208K)
(臨床神経, 52：1267−1269, 2012)
key words：2型筋強直性ジストロフィー，DM2本邦例，臨床症状，顔面筋罹患，近位筋障害
（受付日：2012年5月25日）
