Clinical and neuroimaging features of dyssynergia cerebellaris myoclonica in a Chinese family

Objective: To investigate the clinical, genetic and neuroimaging features by reporting a family with dyssynergia cerebellaris myoclonica. Methods: The proband was examined clinically by neuroimaging, electromyography (EEG), skin and muscles pathology and hematology. The patients with the illness in the family were followed up and the pedigree was drawn. Results: There were 6 patients with dyssynergia cerebellaris myoclonica of the 27 family members in the family. All patients had disproportionate myoclonus, epilepsy, progressive cerebellar ataxia performance. Proband brain MRI showed cerebral atrophy. Cerebellar and cortical atrophy were more serious than other parts. There were long T, and long T2 signals in the white matter, high signal in T2FLAIR. EEG showed bursts of spike-low wave, polyspilke-low waves and polyspike waves distributing in the whole brain. Pathology of the skin and muscles was normal. Conclusions: Dyssynergia cerebellaris myoclonica is an autosomal dominant disease, characterised by myoclonus, progressive cerebellar ataxia and epilepsy. Brain MRI shows cerebral cortical and cerebellar atrophy, abnormal signal in white matter. EEG showes spike and ware wave. The diagnosis is mainly based on family history, typical clinical manifestations, brain MRI and EEG changes.