If you’ve been having sensory loss or similar problems, you may have heard the term neuropathy. Neuropathy is a medical term used to describe nerve damage or dysfunction, particularly to nerves outside of the brain and spinal cord. Together, those nerves make up the peripheral nervous system. They play a critical role in how we experience the world, carrying signals that control movement, sensation, and even heart rate, digestion, and other automatic body functions. When they don’t work properly (because of genetics or otherwise), the effects show up in many ways.
In most cases, neuropathy first becomes noticeable through changes in sensation. This might include numbness, tingling, or a “pins and needles” feeling. Other people may experience burning or sharp pain, heightened sensitivity to touch, or difficulty feeling temperature changes. Balance and coordination can also suffer, making everyday activities more challenging.
What Can Cause Changes in Sensation?
Neuropathy and the related changes in sensation can have many causes. Diabetes, alcohol, B12 deficiency, autoimmune disorders, infection, and injury are all common causes of nerve damage. However, some neuropathies are genetic and passed down through families.
Understanding what neuropathy is and how it affects the senses is an important first step in recognizing symptoms and seeking evaluation and care. However, it is important to know that not all sensory problems are caused by neuropathy. Things like a pinched nerve, spinal cord compression, and tissue damage in the brain or spinal cord can also lead to sensory changes or loss.
Genetic Nerve Damage and Sensory Loss: Large vs. Small Nerve Fibers
If someone has nerve damage, any pain, unexpected sensations, or other sensory problems they have will depend on the type of nerve involved.
Large nerve fibers help with balance and knowing where your body is in space. If these are affected, you may have trouble with balance, walking steadily, and sensing vibrations. Figuring out your position relative to the things around you can also be difficult.
Small nerve fibers, on the other hand, help you feel pain and temperature. If these are affected, you may be less sensitive to feel heat, cold, or pain. You may also have significant nerve pain or issues with your autonomic nervous system (ANS), which controls involuntary functions like heart rate, blood pressure, breathing, digestion, and sweating.
Most inherited nerve conditions affect both movement and sensation, but the mix can vary.
Genetic Nerve Damage Can Be Painful
Pain is a common side effect of inherited nerve conditions. Patients may have:
- Burning, shooting, or electric feelings
- Abnormal, often unpleasant, sensations
- Pain from things that shouldn’t hurt
- Pain disproportionate to exam results
Especially in small-fiber genetic neuropathy, pain can be severe and disabling — even when medical exams and tests (including nerve conduction studies) appear normal. Unfortunately, this means the pain can go underrecognized and undertreated for years in many people. But this pain is very real, and it can be treated. While basic painkillers may have less impact, anticonvulsants, SNRIs, or tricyclics are typically better at targeting pain from genetic sensory problems and nerve damage.
How Genetic Nerve Damage Symptoms Start and Spread
Inherited nerve conditions often have sensory symptoms that begin subtly and progress over time. Symptoms of genetic nerve damage usually begin in the feet and legs. They then move upward and later affect the hands and arms. This is called a length-dependent pattern (longer nerves are affected first). If symptoms don’t follow this pattern (like being uneven or appearing in random areas), a non-genetic cause may be more likely.
Evaluation and Testing for Inherited Nerve Conditions
During a clinical assessment, doctors may test your balance, gait, and ability to feel certain touches or vibrations. Other sensory tests, nerve conduction studies, and tests of functions like sweating, heart rate, and blood pressure can also be valuable. This information helps your team decide if genetic testing is the right next step.
For patients with suspected genetic nerve damage, SequenceMD typically recommends whole genome sequencing (WGS). WGS is more efficient, cost-effective, and comprehensive than sequential genetic testing, which only evaluates one gene panel at a time. With WGS, patients and medical teams can get answers faster, leading to more proactive health management and care.
Managing Inherited Nerve Conditions
Managing an inherited nerve condition involves both treating the underlying cause (when possible) and addressing day-to-day symptoms. For some conditions, targeted therapies can make a meaningful difference. For example, people with Fabry disease may benefit from enzyme replacement therapy. Those with hereditary transthyretin amyloidosis (hATTR) may start medications like tafamidis or newer RNA-silencing therapies that help slow disease progression. Not every condition has a treatment yet, but science is continually advancing, and supportive care can still greatly improve quality of life.
Reducing the pain related to genetic neuropathy can help many patients. Medications such as gabapentin, pregabalin, duloxetine, or certain tricyclic antidepressants can decrease symptoms. Topical options like lidocaine may provide additional relief.
Beyond medication, several other strategies can make a big impact. Learning good foot care habits can help prevent sores or ulcers in patients with reduced sensation. Physical therapy can improve balance and lower the risk of falls. Orthotic devices can provide stability if the ankles feel weak or unsteady. Finally, you may need to avoid certain medications that can further irritate or damage nerves. Working together, your care team can create a plan that supports your safety and daily comfort.
The SequenceMD Approach
If you or your doctor suspect you have an inherited nerve condition, SequenceMD provides holistic and comprehensive patient-centered evaluations. We also work closely with primary and specialty care providers to help patients with genetic nerve damage manage their individual symptoms and overall condition. Beyond helping you find the care you need, we proactively track every referral we make. This allows us to ensure care is actually delivered, not just recommended. We can also help educate families through cascade testing, as presymptomatic diagnosis in relatives can allow for surveillance and early intervention.
For more information on how we work with care providers and patients or to discuss seeing a geneticist, contact us anytime.
