Hereditary Sensory and Autonomic Neuropathy

A careful history and neurologic examination is crucial in these patients. Family history is very important, particularly a history of painful feet and/or amputations. Neurologic examination should include testing of small fiber sensory modalities (pinprick sensations and temperature sensation). These findings mimic the dissociated sensory loss seen in syringomyelia. However, in contrast to a syrinx with primary involvement at the level of the central part of the spinal cord, the small neurons at the level of the dorsal root ganglion appear to be involved in hereditary sensory neuropathy.

Nerve conduction studies and electromyography are very useful for assessing large fiber sensory and motor nerve fibers and are a mainstay of diagnosis for HMSN but are usually not as revealing in HSAN. Dedicated small nerve fiber testing can help clarify the diagnosis, such as quantitative sensory testing, autonomic function testing, and thermoregulatory sweat test, which can show focal areas of sweat loss in these neuropathies. Skin biopsy to evaluate epidermal nerve fiber density can be a useful diagnostic tool. Nerve biopsies are not standard diagnostic tools in these cases, but if performed, may show a relative reduction in small nerve fibers. There is no specific treatment available to halt or slow the progression of the underlying disease process. However, good foot care will help to avoid secondary complications of the disease, such as poorly healing ulcers and amputations. Similar to the recommendations for HMSN, proper well-fitting footwear is essential as is avoidance of repetitive trauma.

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