Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.
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.
Kim
Hyun Sook
HS
Department of Neurology, CHA University School of Medicine, Sungnam, Korea.
Chung
Ki Wha
KW
Kang
Sung Hee
SH
Choi
Sung Kyung
SK
Cho
Sun Young
SY
Koo
Heasoo
H
Kim
Sang-Beom
SB
Choi
Byung-Ok
BO
D000595:Amino Acid Sequence; D001483:Base Sequence; D016022:Case-Control Studies; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D041321:Chromosomes, Human, X; D004594:Electrophysiology / Q000379:methods; D005192:Family Health; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA