Living with dystonia can be challenging. Symptoms can affect your ability to do your job, enjoy hobbies, and do everyday tasks. Some forms of dystonia worsen over time, so getting a rapid, accurate diagnosis is important for the right treatment.
Neurologists at Penn Medicine’s Movement Disorders Center have the experience and expertise to determine whether you have dystonia and help you move forward with life.
How Is Dystonia Diagnosed?
Usually, a neurologist diagnoses dystonia. Neurologists are doctors who specialize in conditions that affect the nervous system.
During your visit, your neurologist will ask about your personal and family medical history and review your current medication list. Your doctor will perform a physical examination to assess the areas of the body affected by dystonia. You should tell the doctor how much symptoms are interfering with daily function.
Usually, the diagnosis of dystonia can be made with only a symptom history and a thorough neurological examination. In certain cases, your doctor may recommend tests such as magnetic resonance imaging (MRI), blood tests, or genetic testing to determine any underlying causes of dystonia. If your doctor can identify the cause, this diagnostic information may guide dystonia treatment.
Imaging studies can detect structural issues, lesions, tumors, stroke, or other injuries to the brain that may rarely cause dystonia. Your doctor may sometimes recommend magnetic resonance imaging (MRI) to produce detailed pictures of the brain that can reveal causes of dystonia.
Genetic Testing for Dystonia
Researchers have identified changes (variants or mutations) in several genes that cause dystonia. People with these changes may have dystonia by itself, or dystonia and other motor and neurological symptoms.
Your doctor may suggest genetic testing to determine if certain genetic changes are causing dystonia, especially if you have a family history of the condition. Genetic testing can also help your doctor select the most effective treatment.
Why Choose Penn Medicine for Dystonia Diagnosis?
Because there is no definitive test for dystonia, getting a diagnosis from an experienced specialist is critical. People seek out our team for dystonia diagnosis because of our:
- Collaborative care: Our team model of care is built on collaboration. Dystonia specialists at Penn meet regularly to discuss challenging or unusual cases. We use our collective experience and wisdom to make an accurate diagnosis that leads to the most effective treatment plan.
- Expertise: Dystonia is frequently misdiagnosed by doctors who lack deep experience with this complex condition. At Penn Medicine, you will meet with doctors who specialize in dystonia and dedicate their practice to bringing you the best possible care.
- Comprehensive genetic testing: Penn’s robust genetics program provides comprehensive genetic testing to look for inherited types of dystonia and research designed to better understand the genetic causes behind these conditions.
- Research-based care: As part of an academic medical center, our doctors are also researchers. Their work seeks to learn more about dystonia and other movement disorders and improve diagnosis and treatment.
Make an Appointment
Please call 800-789-7366 or make an appointment.