Many patients come to our adult genetics practice experiencing complex or unusual neurological signs and symptoms. These patients may have been diagnosed with a neuromuscular condition, neuropathy, neurodegenerative disorders, epilepsy or other disease, but something about it is abnormal. The symptoms may have progressed earlier or faster than expected, be resistant to standard treatment, or have occurred without the typical risk factors. In other cases, the patient has seemingly unrelated symptoms or has developed another major disease. 

While some patients come to us with an inaccurate or incomplete diagnosis, others have no diagnosis despite numerous specialist visits and tests. For both types of patients, an underlying genetic cause may provide valuable answers and direction for future care. 

Should you see a geneticist? Download our 10 Red Flags for Genetic Disorders checklist.

10 Common Neurological Symptoms for Patients with Genetic Disorders

A range of genetic disorders can impact the development and function of the brain, spinal cord, muscles and nerves. These conditions may be inherited or a result of genetic mutations that either occur randomly or as a result of outside factors. With thousands of known unique genetic disorders, neurological symptoms vary widely depending on the disorder and the underlying genetic mutation involved. Some of the most common neurological symptoms we see among adults with genetic disorders include:

  1. Movement abnormality or loss of muscle control: Genetic disorders may lead to movement disorders such as tremors, ataxia (a lack of muscle control that leads to uncoordinated movements), dystonia (involuntary muscle contractions) or chorea (involuntary, jerky movements).
  2. Muscle weakness: Some genetic disorders can cause muscle weakness or progressive muscle wasting, leading to conditions such as muscular dystrophy.
  3. Coordination and balance issues: Difficulty walking, maintaining balance, and other problems with coordination and balance can be symptoms of certain genetic disorders.
  4. Cognitive decline: In certain genetic disorders, individuals may undergo a progressive decline in cognitive abilities, including memory loss, impaired reasoning, and difficulties with attention and executive functions.
  5. Nerve pain: Sensory abnormalities like numbness, tingling, or altered sensation in the limbs may occur in certain genetic disorders affecting the peripheral nerves or spinal cord.
  6. Developmental delay: Delayed development in motor skills, language acquisition or other developmental milestones may be present in many genetic disorders.
  7. Intellectual disability: Many genetic disorders can cause varying degrees of intellectual disability, ranging from mild to severe.
  8. Seizures: Epileptic seizures can occur in numerous genetic disorders, affecting different parts of the brain and resulting in various types of seizures.
  9. Sensory impairment: Genetic disorders may affect the senses, leading to vision or hearing impairments. Individuals may experience heightened or reduced sensitivity to sensory stimuli like light, sound, touch or taste.
  10. Behavioral and mental health changes: Some genetic disorders can be associated with behavioral, mental health and psychiatric symptoms, such as anxiety, depression or aggression.

What does having these symptoms mean?

Some of these neurological features may have been present from birth for patients with genetic disorders, but often neurological indications will not surface until adulthood. These issues may progress over time and worsen during physical stress or illness. They may not improve with standard treatments. Sometimes these symptoms are also associated with differences in physical anatomy (like limb or brain malformations) or other clinical findings.

Of course, these are general symptoms and the specific presentation of symptoms can vary significantly depending on the individual and the underlying genetic disorder. Not everyone with these symptoms has a genetic disorder, and not everyone with a genetic disorder will have these symptoms. Still, if you have one or more of these features, it’s a good idea to consult with your primary care provider about seeing a medical geneticist for proper evaluation, diagnosis and management. Identifying a genetic cause can open the door for more informed and personalized care treatment and improved health outcomes.

New to the world of genetics? Learn more about the benefits of genetic testing and diagnosis.

Struggling with an unexplained or unresolved condition? See if SequenceMD can help.

SequenceMD is a medical genetics practice focused on the diagnosis and care of adults with undiagnosed conditions and unresolved signs or symptoms. SequenceMD also provides care for adults with established genetic and metabolic diagnoses. We are licensed to see patients in Colorado, Wyoming, Arizona, Montana, New Mexico, Kansas and Michigan.

Our team works closely with primary care physicians like internal medicine and family doctors, specialists such as neurologists, cardiologists and oncologists, and directly with patients and families to help find answers and improve your health outcomes. Contact us today to learn more and start the conversation with our genetics care team.