| Charcot-Marie-Tooth Disease Type 1A Diagnosed Based on Abnormalities in a Nerve Conduction Study in a Patient with Myotonic Dystrophy Type 1: A Case Report |
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Received: 25 June 2018 • Revised: 23 July 2018 • Accepted: 11 August 2018 |
| Abstract |
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Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder and one of the most common muscular dystrophies affecting adults. Charcot-Marie-Tooth (CMT) disease, a common hereditary neuropathy, is characterized by atrophy of the distal limbs and peripheral nerve abnormalities. The authors report a rare case involving a 24-year-old female who was diagnosed simultaneously with both DM1 and CMT1A based on the results of a nerve conduction study (NCS). The patient, who had previously been diagnosed with DM1, was admitted for lower extremity pain. Her electrodiagnostic examination continued to reveal severe sensorimotor demyelinating polyneuropathy, and a genetic study was performed to confirm whether she had other hereditary neuropathies, except DM1, that suggested CMT1A, the most common phenotype of CMT. Severe abnormalities in an NCS in a DM1 patient may suggest the incidental coexistence of hereditary neuropathies, and further evaluations, such as genetic studies, should be performed for proper diagnosis. |
| Key Words:
myotonic dystrophy, Charcot-Marie-Tooth disease, nerve conduction study |
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