Combination of myotonic dystrophy and hereditary motor and sensory neuropathy.
Myotonic Dystrophy Type 1 (DM1) in combination with demyelinating neuropathy is very rare in literature. In this study, DM1 and demyelinating neuropathy were demonstrated clinically and electromyographically in a 43-year-old female patient from Turkey. In the patient an expanded CTG repeat in the Myotonic Dystrophy Protein Kinase (DMPK) gene was confirmed in combination with a duplication in the Charcot-Marie-Tooth Disease (CMT1A) gene. DM1 was also determined in her 25-year-old son.
Gaziosmanpasa University, Medical Faculty, Department of Neurology, Tokat, Turkey. gsemihakurt@hotmail.com
Semiha
S
Kurt
Hatice
H
Karaer
Yuksel
Y
Kaplan
Irem
I
Akat
Esra
E
Battaloglu
Didem
D
Eruslu
A Nazli
AN
Basak
D000328:Adult; D004247:DNA / Q000235:genetics; D004594:Electrophysiology; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000209:etiology; D009223:Myotonic Dystrophy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009431:Neural Conduction; D009460:Neurologic Examination; D010292:Paresthesia / Q000209:etiology; D020133:Reverse Transcriptase Polymerase Chain Reaction
D004247:DNA