Neurogenetics
Specialized Genetic Counseling for Neurological Disorders
Neurological conditions can be complex and difficult to diagnose. Our Neurogenetics service focuses on identifying the genetic roots of disorders affecting the brain, spine, and muscular system. We help patients and families move from uncertainty to an actionable plan
When is Neurogenetic Testing Recommended?
A genetic evaluation is a vital step for individuals or families experiencing:
- Movement Disorders: Early-onset Parkinson’s disease, Dystonia, or unexplained tremors.
- Neuromuscular Conditions: Muscle weakness, Muscular Dystrophy (DMD/BMD), or Spinal Muscular Atrophy (SMA).
- Memory & Cognitive Decline: Early-onset Alzheimer’s (before age 65) or Frontotemporal Dementia.
- Neurodegenerative Conditions: Huntington’s Disease, Ataxias, or ALS (Motor Neuron Disease).
- Treatment-Resistant Epilepsy: Seizures that do not respond to standard medications, especially when starting in childhood.
- Unexplained White Matter Changes: Abnormalities seen on an MRI (Leukodystrophies) that require a genetic explanation.
The Benefits of a Genetic Diagnosis
Finding the specific genetic cause of a neurological symptom can be life-changing:
- Precision Therapy: Some genetic neurological conditions have specific treatments—such as enzyme replacements or gene-based therapies—that can slow or stop disease progression.
- Clinical Trial Eligibility: A genetic diagnosis is often the "key" that allows patients to enroll in cutting-edge clinical trials for new medications.
- Prognosis & Expectations: It provides a clearer picture of how the condition may progress, allowing families to plan for future care and accessibility needs.
- Risk to Family Members: Helps siblings or children of the patient understand their own risks and options for preventive care or family planning.
Clarity for Your Journey Starts Here
Neurological health is complex, but your genetic story doesn't have to be a mystery. Let us help you find the answers you need.
The Genetic Counseling Journey
Neurological genetics often involves sensitive information. Our counselors provide a supportive environment to navigate:
- Pre-test Consultation: Discussing the potential for "uninformative" results and the psychological impact of testing for adult-onset conditions.
- The "Right to Know": Helping family members decide if they want to know their risk for a condition that may not manifest for years.
- Multidisciplinary Coordination: We work directly with your Neurologist to ensure your genetic results are integrated into your clinical treatment plan.