It's In The Genes

By Jennifer Bradley on February 04, 2015

It's In The Genes

Any diagnosis of any disease is scary. When a loved one finds out it’s hereditary, the unknown becomes even more concerning.

Neuropathy is a disease of one or more nerves that leads to weakness and wasting of muscles. Most often, this affects muscles below the knees and in hands. Hereditary neuropathy is passed from parents to children. For some types, the genetic defect is definable and can be addressed early on.

A neuropathy can be sensory, motor or autonomic.  A person feels through the sensory nerves and the motor nerves are responsible for movement.  Autonomic nerves are responsible for functions a body naturally does, like breathing and heart rate. The symptoms a loved one may experience if suffering from hereditary neuropathy depends on which nerves are being compromised.

Hereditary neuropathy affects the peripheral nervous system and is divided into four categories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy.





The most common type of hereditary neuropathy is Charcot-Marie-Tooth Disease, or CMT. This actually encompasses several neuropathies. CMT is also known as hereditary motor and sensory neuropathy (HMSN) since it affects both motor and sensory nerve function. A parent with CMT has a 50 percent chance of passing it to his or her child.

A diagnosis of CMT is usually classified as Type 1 or Type 2, depending on which part of the peripheral nerve is compromised. Most people with CMT suffer from Type 1, which affects the covering of the nerve and a third of the group has Type 2, which affects the nerve fibers. The most severe form of CMT, Type 3, is also known as Dejerine-Sottas disease. This is when the nerves are thickened, leading to muscle weakness.

Mayo Clinic says that 1 in 2,500 people are affected with some form of CMT, which is caused by gene mutation affecting brain-nerve-muscle communication. It is a slow progressing disease that first appears in teenagers and young to middle-aged adults.

Common symptoms include weakness or pain in the feet or lower legs and later in hands, a foot drop (inability to lift a foot when stepping), high foot arches and decreased calf muscle strength. A person may experience frequent falls due to a clumsy, awkward step.

Life expectancy does not decrease with most forms of CMT.


Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is the second major type of hereditary neuropathy.

It is also a slow progressing disease and common, but less diagnosed than CMT. People with HNPP experience episodes of numbness and weakness, brought on by fairly mild pressure or trauma to a single nerve. Each episode of numbness may last for several minutes, to several days or months. Two or three months are the most common time periods for symptoms to last, but those diagnosed have reported 6 to 12 months as well. The symptoms are found to occur prevalently in the wrists, elbows and knees.

In 90 percent of people, HNPP causes carpal tunnel syndrome.

The symptoms and severity can vary greatly from individual to individual; many people do not even know they have HNPP. The numbness may be as mild as someone noticing an arm or leg doesn’t have quite the same feeling or, it could be as severe that it feels like it’s been numbed with Novocain. The same scale goes for weakness, varying from slight to unable to move an arm or leg.

Those living with HNPP, as with CMT, do not have a lessened life expectancy.
A third type of hereditary neuropathy is familial dysautonomia, or Riley-Day syndrome. It’s prevalent in Jews of European descent, also affecting both autonomic and sensory nerves.

In Riley-Day patients, symptoms will be noticeable in a person’s infancy. A baby may have difficulty feeding because of decreased muscle tone. The child also will have problems producing tears, and less-than-normal pain and temperature sensitivity.

A child’s sense of taste is altered with Riley-Day syndrome. In addition to a young child holding his or her breath, they also struggle with blood pressure. This leads to dizziness and fainting. Learning disabilities are common as well.
Unlike other forms of hereditary neuropathy, loved ones with Riley-Day have a greatly reduced life expectancy.

How do you know?

If a loved one is suspected of having a hereditary neuropathy, they’ll undergo an extensive neurological exam and workup. This will include the following:

  • Complete health history
    It’s important a neurologist learns when the symptoms started, their severity, duration, location, what relieves them, etc.  

  • Neurological evaluation
    This is a physical examination of reflexes, strength and ability to feel sensations, in addition to evaluation of autonomic nervous system.

Bloodwork, including genetic predisposition test
A doctor will check for vitamin deficiencies, immune responses, blood sugar levels and presence of infection.

  • EMG
    An electromyography measures muscle activity, telling the neurologist if there’s any damage to the muscle, nerve or junctions.

  • Nerve conduction studies
    By measuring the efficiency and speed of the nerve’s electrical signals, it tells the neurologist if there are any abnormalities.

  • MRI
    This rules out any other causes of neuropathy, such as trauma.

  • Lumbar puncture
    A neurologist will have a spinal tap done to see if anything is in the cerebral spinal fluid.

  • Nerve or muscle biopsy
    Only if very specific conditions are suspected will a biopsy be performed.

Treatments and Therapy

The University of Chicago’s Center for Peripheral Neuropathy offers these suggestions for treatment of hereditary neuropathy:

  • Over-the-counter medications

  • Prescription drugs

  • Avoid long activity on hands and knees

  • Avoid crossing legs at the knee

  • Avoid sitting with legs crossed

  • Avoid sitting in one position too long

  • Avoid holding the telephone in one position too long

  • Avoid tying shoes too tight

  • Avoid high heels which make toes numb (even 1-inch high)

  • Take safety measures in case of loss of sensation

  • Therapeutic shoes

In addition to treatments and therapy, there are some self-care tips a person with hereditary neuropathy can implement in their life.

The first is to take care of their feet. A caregiver should make sure they are being checked daily for signs of blisters, cuts or calluses. Tight shoes and socks may worsen pain and tingling.

If your loved one smokes, you should strongly encourage them to quit as smoking affects circulation, increasing foot problems.

Eating healthy is extremely important if a person knows they are at high risk for neuropathy.

Massage helps improve circulation and simulate nerves. If a loved one’s experiencing pain with neuropathy, it can provide some temporary relief as well.


Part of a diagnosis of any illness is then learning the coping mechanisms needed to move forward. The same goes for neuropathy. A caregiver can help their loved one work through the setbacks. It is also important for a person to set priorities each day, by staying active but not overdoing it either.

Many people with pain and difficulty moving around often want to stay alone. This just makes it harder to see beyond the challenges. Encourage a loved one to visit someone or go for a walk.

Support is so important and as a caregiver, essential to offer it. Many people with hereditary neuropathy are embarrassed and unsure of themselves. Support groups and/or talking to a counselor may be good resources as well.

Finally, if a caregiver knows a loved one has a challenging situation approaching, help a loved one with neuropathy plan and be prepared, as to not induce extra stress. The calmer a person is, the less his or her symptoms will flare up.

Living with hereditary neuropathy can be stressful, physically and emotionally. A caregiver is an important piece of the overall puzzle to improve a loved one’s wellness and quality of life.

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By Jennifer Bradley| February 04, 2015
Categories:  Care Giving

About the Author

Jennifer Bradley

Jennifer Bradley

Jennifer Bradley is a Staff Writer for Today's Caregiver Magazine, and the Caregiver Newsletter. You can subscribe to the magazine or receive their free newsletter by going to and signing up.

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