Progressive dystonias are a clinically and genetically heterogeneous group of movement
disorders. In the primary forms, dystonia is the only sign of the disease, and the cause is …

Introduction Among myoclonus-dystonia syndrome (MD) patients, psychiatric disorders
including depression, anxiety, alcohol dependence, obsessive-compulsive disorder (OCD) …

Ataxia-telangiectasia (AT) is an autosomal-recessive disorder characterized by cerebellar
ataxia, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, increased …

We report on a boy with myoclonus-dystonia (MD), language delay, and malformative
anomalies. Genetic investigations allowed the identification of an apparently balanced de …

Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the
disease, but descriptions of movement disorders in adults are very scant. Among 30 patients …

Introduction Myoclonus–dystonia (M–D) is a young onset movement disorder typically
involving myoclonus and dystonia of the upper body. A proportion of the cases are caused …

Purpose To describe clinical and EEG phenotypes of a family with an unusual familial
epilepsy syndrome characterized by myoclonus and dystonia. Methods Family members …

Paediatric neurological disorders encompass a large group of clinically heterogeneous
diseases, of which some are known to have a genetic cause. Over the past few years …

Myoclonus dystonia (M‐D) is a rare genetic movement disorder characterized by a
combination of myoclonic jerks and dystonia. It is usually due to mutations in the SGCE …

We report three novel deletions of the SGCE gene in three families with myoclonus–dystonia
(M–D) syndrome in Taiwan. Their clinical characteristics included: early onset, dominant …