Hereditary neuropathy is an inherited neurological disease that affects the peripheral nervous system. Symptoms vary depending on the type and can include pain, numbness, weakness, and deformities. Treatment focuses on relieving symptoms, and there is no cure. The prognosis depends on the severity of the type, and Charcot-Marie-Tooth disease is the most common type.
Hereditary neuropathy is an inherited neurological disease. It affects the peripheral nervous system, which consists of nerves and ganglia – groups of nerve cells – found outside the brain and spinal cord. These nerves run through the limbs and internal organs, connecting them to the central nervous system. There are four major subcategories of hereditary neuropathy: hereditary sensory neuropathy, hereditary motor neuropathy, hereditary sensory and motor neuropathy, and hereditary sensory and autonomic neuropathy.
Symptoms of hereditary neuropathy vary according to the type and can include sensory symptoms such as pain, numbness and tingling in the feet and hands, or motor symptoms such as weakness and decreased muscle mass, especially in the lower legs and feet. Hereditary neuropathies affecting the autonomic nervous system can cause sweating disorders, sudden drops in blood pressure upon standing, and insensitivity to pain. High arches, hammer toes, thin calf muscles and scoliosis, all associated with hereditary neuropathy, can be present at birth or develop later in life. Genetic tests, nerve biopsies, and nerve conductivity tests can be used to identify inherited neuropathies.
Treatment for hereditary neuropathies focuses on relieving the most troubling symptoms. In some cases, physical therapy and pain medications may be helpful. Beyond these palliative measures, however, there is no standard treatment for hereditary neuropathy. Severe foot or skeletal deformities can be corrected to varying degrees with orthopedic surgery and mobility can be improved with a brace, but there is no cure.
The prognosis for people with hereditary neuropathy depends on which type affects them. Some types are so mild that their symptoms may not even be noticed. In these cases, the disorder may go undiagnosed for years and may never become a serious problem. On the other hand, the more severe types can cause significant hardship and can result in disability.
Charcot-Marie-Tooth disease (CMT), a sensory motor neuropathy named for the three physicians who first identified it, is the most common type of inherited neuropathy. Initially, CMT causes weakness and wasting of the muscles in the feet and lower legs. Foot drop or a high-stepping gait that causes trips and falls can be a result of this condition. Deformities such as high arches or hammer toes are also characteristic of CMT.
The muscle weakness characteristic of CMT is the result of demyelination, which is the destruction of the myelin sheath that protects neurons. Demyelination cuts off nerve signals before they reach the muscle. As CMT progresses, the muscles in the hands may also begin to weaken and atrophy, which can cause a loss of fine motor skills. Rarely, the muscles of the diaphragm and respiratory system may be affected, but CMT is not considered fatal and most patients enjoy a normal life expectancy.
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