Combination of myotonic dystrophy and hereditary motor and sensory neuropathy

Semiha Kurt; Hatice Karaer; Yuksel Kaplan; Irem Akat; Esra Battaloglu; Didem Eruslu; A Nazli Basak

doi:10.1016/j.jns.2009.09.028

Combination of myotonic dystrophy and hereditary motor and sensory neuropathy

J Neurol Sci. 2010 Jan 15;288(1-2):197-9. doi: 10.1016/j.jns.2009.09.028. Epub 2009 Oct 21.

Authors

Semiha Kurt¹, Hatice Karaer, Yuksel Kaplan, Irem Akat, Esra Battaloglu, Didem Eruslu, A Nazli Basak

Affiliation

¹ Gaziosmanpasa University, Medical Faculty, Department of Neurology, Tokat, Turkey. gsemihakurt@hotmail.com

PMID: 19846120
DOI: 10.1016/j.jns.2009.09.028

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
DNA / genetics
Electrophysiology
Female
Hereditary Sensory and Motor Neuropathy / complications*
Hereditary Sensory and Motor Neuropathy / diagnosis
Hereditary Sensory and Motor Neuropathy / genetics
Humans
Male
Muscle Weakness / etiology
Myotonic Dystrophy / complications*
Myotonic Dystrophy / diagnosis
Myotonic Dystrophy / genetics
Neural Conduction
Neurologic Examination
Paresthesia / etiology
Reverse Transcriptase Polymerase Chain Reaction

Substances

DNA