CMT 1X: combined with Myotonic Dystrophy 1

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Neurogenetics. 2010 May 5

Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth

neuropathy.

Kim HS, Chung KW, Kang SH, Choi SK, Cho SY, Koo H, Kim SB, Choi BO.

Department of Neurology, CHA University School of Medicine, Sungnam, Korea.

Abstract

Both the myotonic dystrophy type 1 (DM1) and the X-linked dominant

Charcot-Marie-Tooth disease (CMTX1) are well-established inherited neuromuscular

disorders characterized by progressive weakness and atrophy of the distal limb

muscles.

The underlying causes of the DM1 and CMTX1 are mutations in the DMPK and GJB1

gene, respectively. A patient with both DM1 and CMTX1 inherited these from his

father and mother, respectively.

Histopathological and electrodiagnostic studies revealed both chronic

neuropathic and myopathic features. Physical disabilities were more severe than

seen with either DM1 or CMTX1 alone. In addition, the present case reveals an

asymmetric atrophy (22%) of the right calf muscle compared to the left side.