Myoclonus-DystoniaSymptoms, Doctors, Treatments, Advances & More
Learn About Myoclonus-Dystonia
View Main Condition: Movement Disorders
Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).
Mutations in the SGCE gene cause 30 to 50 percent of cases of myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon (ε)-sarcoglycan, whose function is unknown. The ε-sarcoglycan protein is located within the outer membrane of cells in many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells.
The prevalence of myoclonus-dystonia in Europe is estimated to be 1 in 500,000 individuals. Its prevalence elsewhere in the world is unknown.
In cases in which the genetic cause is known, myoclonus-dystonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In cases in which the cause of the condition is unknown, the inheritance is unclear.
Niccolo Mencacci is a Neurologist practicing medicine in Chicago, Illinois. He has been practicing medicine for over 18 years. Dr. Mencacci is rated as an Elite provider by MediFind in the treatment of Myoclonus-Dystonia. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Chorea, Drug Induced Dyskinesia, Myoclonus-Dystonia, Movement Disorders, and Deep Brain Stimulation.
Atrium Health Neurology Specialty Care, A Facility Of Carolinas Medical Center
Danielle Doggett is a Neurologist practicing medicine in Charlotte, North Carolina. Dr. Doggett is rated as an Advanced provider by MediFind in the treatment of Myoclonus-Dystonia. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Parkinson's Disease, Movement Disorders, Essential Tremor, Drug Induced Dyskinesia, and Deep Brain Stimulation. Dr. Doggett is board certified in American Board Of Psychiatry And Neurology. Dr. Doggett is currently accepting new patients.
Belen Duenas-Perez practices practicing medicine in Madrid, Spain. Ms. Duenas-Perez is rated as an Elite expert by MediFind in the treatment of Myoclonus-Dystonia. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Myoclonus-Dystonia, Drug Induced Dyskinesia, Hallervorden-Spatz Disease, Pantothenate Kinase-Associated Neurodegeneration, and Deep Brain Stimulation.
Published Date: October 01, 2017
Published By: National Institutes of Health