What role do genetic factors play in neuropathy?

May 14, 2025


Neuropathy No More By JODI KNAPP Neuropathy No More is an eBook which is a compilation of all the essential information and details about the nervous system and how to keep it active and healthy. With the help of this program, one can get a relief from the symptoms of neuropathy. This eBook not only tells you about the nervous system, but also helps to provide essential information to get relief from the condition of neuropathy. It also provides information about how you can prevent this condition from coming back in the near future.


What role do genetic factors play in neuropathy?

Genetic etiology can be a major cause of neuropathy, especially in disorders known as hereditary or inherited neuropathies. They are caused by mutations of some genes that affect the structure or function of peripheral nerves.

???? Key Facts About Genetic Neuropathy
???? 1. Inherited Neuropathies
These are neuropathies that are passed on from parents to children via genes. The most well-known inherited neuropathy is:

Charcot-Marie-Tooth Disease (CMT)

A group of inherited conditions that affect the motor and sensory nerves.

Foot drop, muscle wasting in lower legs, high arches, and inability to balance are its features.

Has many subtypes depending on which gene is affected (e.g., CMT1A, CMT2).

Other hereditary neuropathies apart from Charcot-Marie-Tooth disease are:

Hereditary Sensory and Autonomic Neuropathies (HSAN)

Affect pain sensation, temperature, and autonomic functions.

May cause silent injury because of the lack of pain.

Familial Amyloid Polyneuropathy (FAP)

Caused by mutations in the TTR (transthyretin) gene.

Causes deposition of amyloid proteins in nerves and organs, resulting in progressive sensory and autonomic neuropathy.

???? 2. How Do Genetic Mutations Cause Neuropathy?
They can disrupt myelin manufacture, the nerve sheathing.
They can kill the axon (nerve fiber that conducts signals).

Some damage mitochondrial function, limiting the nerve’s ability to produce energy.

???? 3. When to Suspect a Genetic Cause
You can consider a genetic etiology of neuropathy if:

Symptoms begin in childhood or early adult life

Family history is present for the same symptoms (e.g., deformities of the feet, abnormalities of gait)

More than one generation is affected

Tests for diabetes, vitamin deficiency, etc., as a matter of routine, are within normal limits

???? 4. Genetic Testing
Most hereditary neuropathies, especially CMT and FAP, can be tested for.
Genetic testing can help with diagnosis, prognosis, and family planning.

Referral to a genetic counselor or a neurologist is typically recommended.

⚕️ 5. Treatment
Many inherited neuropathies cannot be treated.
Most treatment focuses on:
Physical and occupational therapy

Orthopedic equipment (such as foot drop braces)

Treatment of pain

Genetic guidance

Emerging treatments ongoing (especially for FAP, for which there are FDA-approved treatments like tafamidis)

✅ In Summary
Genetic diseases can also directly cause neuropathy, usually in inherited disorders like Charcot-Marie-Tooth disease or familial amyloid polyneuropathy. The neuropathies are progressive, familial, and usually require specialty care and genetic studies for diagnosis and treatment.

Do you need assistance with learning a specific inherited neuropathy or obtaining genetic testing?

Yes, they do cause neuropathy, especially if they involve vitamins necessary for nerve function, energy metabolism, and myelin maintenance. Deficiencies are often seen in those with malnutrition, absorption disorders, alcoholism, or severe dietary restrictions.

???? Critical Vitamin Deficiencies Causing Neuropathy
1. Vitamin B1 (Thiamine)
Role: Required for conduction of nerves and glucose metabolism.

Deficiency Cause: Alcoholism, malnutrition, bariatric surgery.

Neuropathy Type: Burning or tingling pain in the feet, weakness of the leg.

Associated Disease: Dry beriberi (neurologic presentation of thiamine deficiency).

2. Vitamin B6 (Pyridoxine)
Function: Required for neurotransmitter synthesis.

Cause of Deficiency: Inadequate nutrition, kidney disease, certain medications (e.g. isoniazid).

Symptoms: Numbness, paresthesia of hands/feet, irritability, confusion.

Note: Excessive B6 from over-supplementation will also cause neuropathy (toxicity >100–200 mg/day chronically).

3. Vitamin B12 (Cobalamin)
Function: Critical for formation of myelin sheath and DNA synthesis.

Cause of Deficiency: Pernicious anemia, vegan diet, gastric surgery, metformin use.

Neuropathy Symptoms: Numbness, tingling, balance disturbance, memory impairment.

Associated Condition: Subacute combined degeneration of the spinal cord.

4. Vitamin E
Role: Antioxidant that protects nerve membranes.

Deficiency Cause: Malabsorption of fat (e.g., cystic fibrosis, Crohn’s, liver disease).

Symptoms: Poor coordination (ataxia), balance disturbances, weakness in muscles.

5. Niacin (Vitamin B3)
Deficiency Cause: Chronic alcoholism, malnutrition.

Condition: Pellagra—characterized by dermatitis, diarrhea, dementia, and occasionally peripheral neuropathy.

⚠️ Who Is at Risk?
Chronic alcohol abusers

Patients with gastrointestinal diseases (e.g., celiac, Crohn’s)

Individuals with eating disorders or restrictive diets

Patients after bariatric surgery

Long-term takers of certain drugs (e.g., proton pump inhibitors, metformin, isoniazid)

???? Diagnosis and Treatment
Blood work to assess levels of vitamins.

Nerve conduction tests to test nerve function.

Vitamin supplementation: Often by oral or injectable means.

Dietary therapy: Eating plans by a nutritionist.

✅ Good News
Vitamin deficiency neuropathies are often reversible if detected early and treated quickly—though some damage to nerves will be irreversible if the deficiency continues for too long.

Would you prefer a list of foods that are high in these nerve-protecting vitamins or information on safe supplementation?


Neuropathy No More By JODI KNAPP Neuropathy No More is an eBook which is a compilation of all the essential information and details about the nervous system and how to keep it active and healthy. With the help of this program, one can get a relief from the symptoms of neuropathy. This eBook not only tells you about the nervous system, but also helps to provide essential information to get relief from the condition of neuropathy. It also provides information about how you can prevent this condition from coming back in the near future.