Objective To investigate the clinical manifestation and electrophysiological, muscle imaging and pathological, molecular features of oculopharyngodistal myopathy (OPDM). Methods The clinical electrophysiological, muscle imaging and pathological, molecular data was collected from a case of OPDM. Data analysis was conducted together with a literature. Results The onset age of the patient was 25 years old. The sequential order of involved muscle was upper eyelid muscle, external ocular, laryngopharyngeal, facial, distal limb muscle and proximal upper limb. Serum creatine kinase was mildly elevated. Electromyography revealed myogenic changes with demyelinating peripheral neuropathy. Myopathological findings showed myopathic changes with rimmed vacuoles . Muscle image showed that fatty replacement of was more severe in lower legs than in thigh. Posterior muscle was severely involved in lower legs. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by targeted next-generation sequencing. Conclusion The case is a sporadic case. OPDM is a disease with a unique phenotype which not only affects muscle but also involves multiple system (demyelinating peripheral neuropathy、heart disease and so on).

Cerebral small vessel disease (CSVD) refers to a series of pathological, imaging and clinical syndrome caused by various etiologies affecting cerebral arterioles, venules and capillaries. The main imaging features of CSVD include white matter hyperintensities, cerebral microbleeds, lacunar cerebral infarction, enlarged perivascular space, and brain atrophy. Deep medullary veins (DMVs) are small parenchymal veins around the lateral ventricle, which participate in the venous return from deep white matter veins to subependymal veins. In recent years, more and more studies have shown that DMVs are closely associated with the occurrence and development of CSVD. This article reviews the role of DMVs in CSVD, and provides ideas for further exploring the pathogenesis and imaging markers of CSVD.