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Laboratory abnormalities in patients with myotonic dystrophy type 2.

ABSTRACT: 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.To analyze and compile the laboratory abnormalities of patients with DM2.Baseline DM2 laboratory data were compiled representing 68 different types of laboratory tests and 1442 total studies.University medical center.Eighty-three adults with genetically confirmed or clinically probable DM2 were identified. Of these patients, 49 had documented baseline laboratory screening.The individual frequencies of abnormal laboratory values in the population with DM2 studied.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.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.

SUBMITTER: Heatwole C

PROVIDER: S-EPMC3429333 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature

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Laboratory abnormalities in patients with myotonic dystrophy type 2.

Heatwole Chad C Johnson Nicholas N Goldberg Bradley B Martens William W Moxley Richard R

Archives of neurology 20110901 9

<h4>Background</h4>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.<h4>Objective</h4>To analyze and compile the laboratory abnormalities of patients with DM2.<h4>Design</h4>Baseline DM2 laboratory data were compiled representing 68 different types of laboratory tests an ...[more]

PMID: 21911698

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Project description:Sleep disturbances such as excessive daytime sleepiness, central and obstructive sleep apneas, restless legs syndrome, and rapid eye movement sleep dysregulation are prominent in patients with myotonic dystrophy type 1 (DM1). Mild intellectual deficits presented in many patients with DM1. In addition, psychosocial issues caused by neuropsychiatric symptoms are a clinical problem. We herein present the cases of four DM1 patients with sleep disturbances and neuropsychiatric symptoms in the preceding stage of clinically significant muscle symptoms. One of the cases exhibited a sleep disorder and neuropsychiatric symptoms before electromyography showed myotonic discharge, suggesting that careful follow-up is also important. Patients 1 and 2 were first referred to our department due to daytime sleepiness. Patients 3 and 4 were objectively suffering from daytime sleepiness of which they were not subjectively aware of. Patients 1, 3, and 4 obtained high apnea-hypopnea index (AHI) scores, which reflected central and/or obstructive apnea, whereas patient 2 had an AHI score of zero. The daytime cerebrospinal fluid (CSF) orexin levels of all patients ranged from the normal lower limit to low, although they were not as low as those observed in narcolepsy with typical cataplexy. Neuropsychological tests of patients 1 and 2 showed frontal lobe dysfunction. Patients 3 and 4 were diagnosed with mild intellectual disability and autism spectrum disorder, respectively. All patients exhibited indifference toward their own symptoms, which may have resulted from the cognitive decline caused by DM1. Based on family history and/or neurological findings such as myotonia, we suspected DM1 as the cause of their sleep disturbances. Molecular analysis using the triplet repeat-primed polymerase chain reaction (TP PCR) method and Southern blotting, which provided a genetic confirmation of the diagnosis of DM1, were performed. These clinical features of sleep disturbances were unrelated to the length of CTG repeats and are caused by unknown molecular mechanisms. Clinicians should take into account that multisystem involvement in DM1 is hugely variable, and thus, a disabling sleep disorder could overshadow muscle impairment in DM1 patients.

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Laboratory abnormalities in patients with myotonic dystrophy type 2.

Publications

Laboratory abnormalities in patients with myotonic dystrophy type 2.

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