ⓘ Myoclonic dystonia

                                     

ⓘ Myoclonic dystonia

Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous muscle contraction causing abnormal posture. The prevalence of myoclonus dystonia has not been reported, however, this disorder falls under the umbrella of movement disorders which affect thousands worldwide. Myoclonus dystonia results from mutations in the SGCE gene coding for an integral membrane protein found in both neurons and muscle fibers. Those suffering from this disease exhibit symptoms of rapid, jerky movements of the upper limbs, as well as distortion of the bodys orientation due to simultaneous activation of agonist and antagonist muscles.

Myoclonus dystonia is caused by loss of function mutations in the gene for Epsilon sarcoglycan sheet. The disease is inherited as a dominant, but the sheet is an imprinted gene, expressed only the paternal allele. Thus, children suffering from this disease inherit a mutation from the father. If the mutant allele is inherited from the mother, the child may not show symptoms.

While no cure has been found for myoclonus, dystonia, treatment options available for those suffering from this disease. Ethanol often leads to improvement of symptoms, thus the syndrome is also called "alcohol-responsive dystonia". Alcohol may be replaced by the benzodiazepines, such as clonazepam, which work through the same mechanism. Deep brain stimulation DBS is another viable option that can relieve symptoms without the unwanted side effects of medicines are well established in the treatment of other movement disorders.

                                     
  • frequently involving the legs and back. There is a group called myoclonic dystonia where some cases are hereditary and have been associated with a missense
  • γ - sarcoglycanopathy, LGMD2C δ - sarcoglycanopathy, LGMD2F and ε - sarcoglycanopathy, myoclonic dystonia The four different sarcoglycan genes encode proteins that form a
  • a medical sign and, generally, is not a diagnosis of a disease. These myoclonic twitches, jerks, or seizures are usually caused by sudden muscle contractions
  • pallidus internus during myoclonic episodes and an increase of 5 7 Hz activity in dystonic muscles when compared to other primary dystonias This indicates that
  • Epilepsy with: myoclonic absences myoclonic - astatic seizures Infantile spasms Lennox - Gastaut syndrome Salaam attacks Symptomatic early myoclonic encephalopathy
  • of appetite, weight loss, insomnia, drowsiness, ataxia, hypotonia, and dystonia Common between 1 and 10 of people adverse effects include neutropenia
  • MERRF syndrome or myoclonic epilepsy with ragged red fibers is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity
  • Myocarditis Myocardium disorder Myoclonic dystonia Myoclonic epilepsy Myoclonic epilepsy with ragged red fibres MERRF syndrome Myoclonic progressive familial epilepsy
  • eye closure leading to functional blindness. Oromandibular dystonia is a type of dystonia marked by forceful contractions of the lower face, which causes
  • include partial seizures, clusters of infantile spasms, and, rarely, myoclonic seizures. In addition to seizures, children with OS exhibit profound mental