Hereditary Neuropathies

What are hereditary neuropathies?           

Hereditary neuropathies are a group of inherited disorders that affect the peripheral nervous system. They are divided into four major subcategories:

  1. Hereditary motor and sensory neuropathy
  2. Hereditary sensory neuropathy
  3. Hereditary motor neuropathy
  4. Hereditary sensory and autonomic neuropathy

The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory neuropathies.

Symptoms of the hereditary neuropathies vary according to the type. They may include sensory symptoms such as:

  • Numbness
  • Tingling
  • Pain in the feet and hands

Or, they may include motor symptoms such as weakness and loss of muscle bulk, especially in the lower leg and feet muscles.

Certain types of hereditary neuropathies can affect the autonomic nerves, causing:

  • Impaired sweating
  • Postural hypotension
  • Insensitivity to pain

Some people may also have:

  • Foot deformities such as high arches and hammer toes
  • Thin calf muscles that can look like an inverted champagne glass
  • Scoliosis, which is curving of the spine

The symptoms of hereditary neuropathies may appear at birth or in middle or late life. They can vary among different family members, with some members having more severe symptoms than others.

The hereditary neuropathies can be diagnosed by:

  • Blood tests for genetic testing
  • Nerve conduction studies
  • Nerve biopsies

There are no standard treatments for hereditary neuropathies. Treatment aims to relieve symptoms and provide support. Treatment includes physical therapy and if needed, pain medication. Orthopedic surgery may be needed to correct severe foot or other skeletal deformities. Bracing may also be used to improve mobility.

Genetic counseling is important to understand further details about the disease.

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Learn About Clinical Trials
Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

How can I or my loved one help improve care for people with hereditary neuropathies?

Consider participating in a clinical trial so clinicians and scientists can learn more about hereditary neuropathies and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people living with hereditary neuropathies at Clinicaltrials.gov.

Where can I find more information about hereditary neuropathies?                    

The following organizations and resources help individuals, families, friends, and caregivers of people living with hereditary neuropathies:

American Chronic Pain Association (ACPA)
Phone: 916-632-0922 or 800-533-3231

Hereditary Neuropathy Foundation, Inc
Phone: 855-435-7268 or 212-722-8396

Muscular Dystrophy Association
Phone: 800-572-1717

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