Combination of myotonic dystrophy and HMSN (CMT 1A)

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J Neurol Sci. 2009 Oct 20.

Combination of myotonic dystrophy and hereditary motor and sensory neuropathy.

Kurt S, Karaer H, Kaplan Y, Akat I, Battaloglu E, Eruslu D, Basak AN.

Gaziosmanpasa University, Medical Faculty, Department of Neurology, Tokat,

Turkey.

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.