Hereditary Neuropathies
Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and 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 and may include sensory symptoms such as numbness, tingling, and pain in the feet and hands; or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some people may have foot deformities such as high arches and hammer toes, thin calf muscles (having the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent at birth or appear in middle or late life. They can vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by blood tests for genetic testing, nerve conduction studies, and nerve biopsies.
Treatment
There are no standard treatments for hereditary neuropathies. Treatment is mainly symptomatic and supportive. Medical 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.
Prognosis
The prognosis for individuals with hereditary neuropathies depends upon the type of neuropathy. Some hereditary neuropathies have very mild symptoms and may go undiagnosed for many years. Other types are more severe and are associated with more disabilities. Genetic counseling is important to understand further details about the disease and prognosis.
Research
The NINDS supports research on neuromuscular disorders, such as hereditary neuropathies, aimed at learning more about these disorders and finding ways to prevent and treat them.
Organizations
American Chronic Pain Association (ACPA)
Provides self-help coping skills and peer support to people with chronic pain. Sponsors local support groups throughout the U.S. and provides assistance in starting and maintaining support groups.
P.O. Box 850
Rocklin, CA 95677-0850
ACPA@theacpa.org
http://www.theacpa.org
Tel: Rocklin
Fax: 916-652-8190
Neuropathy Association
The Neuropathy Association is the leading national nonprofit organization providing peripheral neuropathy patient support and education, advocating for patients' interests, and promoting critical research. We have 50,000 members and supporters, and a nationwide network of 135 support groups and 12 Neuropathy Centers of Excellence at prominent medical institutions.
110 West 40th Street
Suite 1804
New York, NY 10018
info@neuropathy.org
http://www.neuropathy.org
Tel: New York
Fax: 212-692-0668
Muscular Dystrophy Association
Voluntary health agency that fosters neuromuscular disease research and provides patient care funded almost entirely by individual private contributors. MDA addresses the muscular dystrophies, spinal muscular atrophy, ALS, Charcot-Marie-Tooth disease, myasthenia gravis, Friedreich's ataxia, metabolic diseases of muscle, and inflammatory diseases of muscle, for a total of more than 40 neuromuscular diseases.
National Office - 222 S. Riverside Plaza
Suite 1500
Chicago, IL 60606
mda@mdausa.org
http://www.mda.org
Tel: Chicago
Fax: 520-529-5300
Hereditary Neuropathy Foundation, Inc
Dedicated to raising awareness, funding innovative research and improving quality of life for those with Charcot-Marie-Tooth (CMT) disorder, their families, and caregivers by offering medical information to help manage the CMT as well as emotional support.
432 Park Avenue South
4th Floor
New York, NY 10128
info@hnf-cure.org
http://www.hnf-cure.org
Tel: New York
Content Provided By
NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.
