Oculopharyngeal Myopathy with Leukodystrophy (OPML1)
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Overview
From WUSTL Neuromuscular● Epidemiology: 1 Japanese family, 3 patients Genetics Mutation: CGG repeat expansion In bidirectionally transcribed long noncoding RNAs (LOC642361/NUTM2B-AS1) Somatic instability Allelic disorder: Oculopharyngodistal myopathy Clinical Myopathy Weakness: Diffuse Bulbar: Dysarthria; Dysphagia Respiratory: 2 patients Eye Ptosis EOM: Limited range Systemic: 1 patient GI dysmotility Bladder dysfunction Cardiomyopathy, dilated Leukoencephalopathy Ataxia & Tremor: 1 patient Laboratory Muscle: Non-specific myopathy Brain MRI: Increased DWI signal intensity in corticomedullary junction of cerebral whi
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.