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 by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic criteria, identification of patients most likely to have an SGCE mutation remains d...

BACKGROUND Piracetam has been proven to be effective and well tolerated in the treatment of myoclonus in short-term studies. OBJECTIVE To assess its long-term clinical efficacy, 11 patients with disabling myoclonus due to progressive myoclonus epilepsy were treated with piracetam in an open-label study. METHODS Neurologic outcome (at the 1st, 6th, 12th, and 18th month of treatment) was asse...

BACKGROUND AND PURPOSE EPM1, caused by mutations in the CSTB gene, is the most common form of PME. The most incapacitating symptom of EPM1 is action-activated and stimulus-sensitive myoclonus. The clinical severity of the disease varies considerably among patients, but so far, no correlations have been observed between quantitative structural changes in the brain and clinical parameters such as...

Oligoclonal bands in cerebrospinal fluid reflect local B-cell responses associated with various neuroinflammatory disorders. In opsoclonus-myoclonus syndrome, cerebrospinal fluid B-cell expansion was demonstrated, but no studies of oligoclonal bands are available. In a prospective case-control study of 132 children (103 with opsoclonus-myoclonus, 29 neurologic control subjects), cerebrospinal f...

Essential palatal myoclonus is a rare movement disorder consisting of continuous rhythmic jerks of the soft palate; it usually develops secondary to brainstem or cerebellar disease called symptomatic rhythmic palatal myoclonus. Diagnosis is usually clinical, and some patients, however, fail to show evidence of a structural lesion like our patient called essential rhythmic palatal myoclonus. We ...

ized by onset in the late second or early third decade of life with a progressive, disabling, and drug-resistant action myoclonus and an invariably fatal course. The diagnosis is challenging until the full clinical picture is present. Progressive myoclonus ataxia or epilepsy with SCARB2 mutations should be distinguished from Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fibers...

A patient comatose after acute anoxia developed bilaterally synchronous, periodic myoclonic jerks most prominently in the bilateral upper limbs. Although the myoclonus seemed to occur spontaneously, electrophysiological studies showed that the myoclonic jerks correlated in timing and size with arterial pulses, and was suppressed by massage over the carotid sinus. It is proposed that the present...