Table of Contents
What causes myoclonic dystonia?
Myoclonus dystonia is caused by loss-of-function-mutations in the epsilon sarcoglycan gene (SGCE). The disease is dominantly inherited, however SGCE is an imprinted gene, so only the paternal allele is expressed. Therefore, children suffering from this disease inherit the mutation from the father.
Is myoclonus dystonia rare?
Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with ‘lightning-like’ myoclonic jerks.
Is myoclonus dystonia progressive?
Most frequently, the disorder appears to be slowly progressive for a few years after onset, stabilizes, and then fluctuates slightly over the years or shows a mild spontaneous improvement. Myoclonus dystonia is often a familial disorder seen in successive generations.
Is myoclonus dystonia a disability?
Abstract. Myoclonus dystonia is a rare movement disorder that often causes significant disability.
What is myoclonic dystonia?
Myoclonic dystonia. Myoclonus–dystonia (M-D) is a rare autosomal dominant movement disorder that is characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements resulting in abnormal postures (dystonia). From: Encyclopedia of Neuroscience, 2009.
Is deep brain stimulation effective for myoclonus dystonia?
Deep brain stimulation (DBS) has been found to be an effective and safe treatment for myoclonus dystonia patients, whose severe and debilitating symptoms are resistant to drug treatments. Electrical stimulation within the brain is a common treatment for many movement disorders because of the ability to excite or inhibit neurons within the brain.
What is the a genetic classification for dystonia?
A genetic classification for dystonia was established that sub-classified dystonia based upon the specific genetic mutation/loci associated with the subtype. Disorders were given the official abbreviation DYT and a number (e.g. DYT1). The subtypes are numbered in the order they were identified in the medical literature.
Does dystonia run in families?
Other cases occur randomly for no apparent reason, without a family history of the disorder (sporadically). In many cases, the exact underlying cause of dystonia is unknown or unproven (idiopathic). Most likely, many cases of dystonia develop due to multiple factors including genetic and environmental ones.