There is a loss of muscle control, loss of muscle tone, and eventual loss of muscle mass caused by lack of nervous stimulation to the muscles. The stretch reflexes in the legs are absent. A muscle biopsy or nerve biopsy may confirm the diagnosis. Nerve conduction tests are often performed to distinguish axonal from demyelinating forms of the disorder. Gene marker studies will probably be available soon.
Treatment is aimed at maximizing independence.
Orthopedic surgery or equipment such as braces or orthopedic shoes may maximize the ability to walk. Vocational counseling, occupational therapy, or physical therapy may be appropriate for some people to help maintain muscle strength and maximize independent functioning. It does not shorten the expected life span. It is not usually painful, but sensation may decrease in the area. Prevention Genetic counseling may be advised if there is a strong family history of the disorder.