Neurodegenerative conditions refer to a group of disorders that impact the way a person’s brain and nerves function. Individuals with these disorders have nerve cells, called neurons, in the brain and throughout the body that lose function over time, and eventually these neurons will lose all function and die. Neurons don’t replicate or repair themselves, so our bodies do not have a way to make more after these cells die. When these neurons die, it affects the brain’s ability to work and communicate correctly with the rest of the body. 

Some neurodegenerative conditions we know are inherited and caused by changes in specific genes, while other conditions we are still learning about. Neurodegenerative disorders range in symptoms and severity. Some symptoms that can be seen with neurodegenerative disorders include:

• Involuntary movement
• Problems with memory or thinking
• Stumbling
• Shaking
• Mood changes

Diagnosis of a neurodegenerative disorder can include:

• Careful evaluation of an individual’s medical and family history
• Physical examination
• Neuroimaging (MRI, functional MRI, MRS) 
• Other studies, and/or genetic testing. 

There is currently no known cure for neurodegenerative disorders, but clinical trials are evaluating potential treatments. 

Examples of neurodegenerative disorders include:

• Huntington’s Disease (HD)
• Amyotrophic Lateral Sclerosis (ALS)
• Frontotemporal dementia (FTD)
• Alzheimer’s Disease
• Parkinson’s Disease
• Leukodystrophies 

Click here to learn more about scheduling a genetic counseling appointment for questions about pediatric or adult genetic conditions.

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