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Original Contributions |

Laboratory Abnormalities in Patients With Myotonic Dystrophy Type 2

Chad Heatwole, MD, MS-CI; Nicholas Johnson, MD; Bradley Goldberg, BS; William Martens, BA; Richard Moxley, MD
Arch Neurol. 2011;68(9):1180-1184. doi:10.1001/archneurol.2011.191.
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Background Myotonic dystrophy type 2 (DM2) is a recently discovered adult muscular dystrophy. Similar to DM1, this disease causes progressive debilitating weakness, clinical myotonia, and early cataracts and is thought to cause widespread physiologic dysfunction of multiple organ systems.

Objective To analyze and compile the laboratory abnormalities of patients with DM2.

Design Baseline DM2 laboratory data were compiled representing 68 different types of laboratory tests and 1442 total studies.

Setting University medical center.

Patients Eighty-three adults with genetically confirmed or clinically probable DM2 were identified. Of these patients, 49 had documented baseline laboratory screening.

Main Outcome Measures The individual frequencies of abnormal laboratory values in the population with DM2 studied.

Results Of the 1442 studies, results for 359 (24.9%) were outside of their standard reference ranges. Of the 68 types of laboratory tests studied, 43 had values from 15 or more different patients with DM2. The relative frequency of an abnormally elevated laboratory value was greater than 50% in several tests, including the levels of creatine kinase, total cholesterol, lactate dehydrogenase, and alanine aminotransferase. In addition, serum levels of IgG were low in 75% of all patients with DM2 tested, and absolute lymphocyte counts were low in 54% of all patients with DM2 tested.

Conclusions There is a high frequency of laboratory abnormalities in patients with DM2. These abnormalities provide insight into the widespread pathologic manifestations of DM2 and may form a basis for clinical monitoring and disease screening.

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