Myotonic Dystrophy Type 1 Associated with White Matter Hyperintense Lesions: Clinic, Imaging, and Genetic Analysis

DM2, also called proximal myotonic myopathy, is rarer than DM1 and generally manifests with milder signs and symptoms, and is caused by an expanded CCTG repeat (from 75 to 11,000 repeats) in the first intron of the zinc finger protein 9 (ZNF9) gene on chromosome 3q21. [...]there are few reports of DM with WMHLs in China. Routine blood test, blood glucose, liver and renal function, cardiac enzymes, antinuclear antibody, double-stranded deoxyribonucleic acid (DNA), antineutrophil cytoplasmic antibody, thyroid function, thyroid-associated antibodies, and hormone levels were normal. According to the main clinical presentation and the results of the brain MRI, the relevant differential diagnoses of WMHLs were be considered at first. The features of the MRI were extensive and bilateral cerebral hemisphere WMHLs, especially bilateral ATWMHLs which were strong suggestive to subcortical infarcts and leukoencephalopathy autosomal dominant cerebral artery disease (CADASIL), and some types of autoimmune diseases like Hashimoto encephalopathy. The CTG repeats in the 3'-untranslated region of DPMK gene were detected by tri-primer polymerase chain reaction (TP-PCR) and capillary electrophoresis using standard methods. Recent studies have demonstrated that the degree of myopathy, disease severity and age of onset might be correlated with the number of triplet repeats in DM patients, and it has the phenomenon of genetic anticipation. [3] did genetic testing in 274 early-onset cataract adult patients without signs of DM1 or a family history of DM1, and found 4 cases of completely mutations in DMPK gene. [...]patients who have early-onset of cataract should be considered the possible of genetic...