Dopa-Responsive DystoniaSymptoms, Doctors, Treatments, Advances & More
Learn About Dopa-Responsive Dystonia
View Main Condition: Movement Disorders
Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa.
Mutations in the GCH1 gene are the most common cause of dopa-responsive dystonia. Less often, mutations in the TH or SPR gene cause this condition.
Dopa-responsive dystonia is estimated to affect 1 per million people worldwide. However, the disorder is likely underdiagnosed because the condition may not be identified in people with mild symptoms, or it may be misdiagnosed in people who have symptoms similar to other movement disorders.
When dopa-responsive dystonia is caused by mutations in the GCH1 gene, it 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Brigham And Women's Hospital, Neurosciences Center
Nutan Sharma received an AB from Stanford University, and her MD and PHD from the State University of New York at Stony Brook. She competed a Neurology residency at Yale University, and a fellowship in movement disorders with Brad Hyman at MGH. She became an instructor in Neurology at Harvard medical School in 2001, attaining the rank of Associate Professor in 2011. In 2001, Dr. Sharma established the first Dystonia Clinic for comprehensive care of patients with dystonia at the Massachusetts General Hospital and Brigham and Women’s Hospital. In 2005, the International Movement Disorders Society honored Dr. Sharma for Excellence in Basic Science. She is also director of the Collaborative Center for the study of X-linked Dystonia-Parkinsonism (XDP), which funds research and medical care for those with XDP. Dr. Sharma is rated as an Elite provider by MediFind in the treatment of Dopa-Responsive Dystonia. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Drug Induced Dyskinesia, Focal Dystonia, Movement Disorders, Dopa-Responsive Dystonia, and Deep Brain Stimulation. Dr. Sharma is board certified in Neurology.
St. Vincent Neurosurgery
Javier Echeverri is a Neurologist practicing medicine in Billings, Montana. He has been practicing medicine for over 47 years. Dr. Echeverri is rated as an Advanced provider by MediFind in the treatment of Dopa-Responsive Dystonia. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Essential Tremor, Parkinson's Disease, Movement Disorders, Epilepsy with Myoclonic-Atonic Seizures, and Deep Brain Stimulation. Dr. Echeverri is currently accepting new patients.
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 Dopa-Responsive 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.
Published Date: May 01, 2012
Published By: National Institutes of Health