Rinsho Shinkeigaku (Clinical Neurology)

Symposium 3

Myotonic dystrophy type 2

Takashi Kimura, M.D., Ph.D.

Department of Neurology, National Hospital Organization, Asahikawa Medical Center

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)

(CLINICA NEUROL, 52: 1267|1269, 2012)
key words: Myotonic dystrophy type 2, Japanese DM2 patient, clinical feature, facial involvement, proximal involvement

(Received: 25-May-12)