Hereditary neuropathies

Spontaneous burning, aching, or lancinating pain can be a feature of hereditary sensory and autonomic neuropathy (HSAN) type I. It is characterized by autosomal dominant inheritance, onset is in the second to fourth decades, and there is preferential affection of lower limbs. Progression is very slow and may be associated with foot ulceration and other complications. Loss of pain and temperature sensations are the main findings upon examination.

Painful burning sensations in the hands and lower legs, and tender legs in boys or young men, may be the presenting feature in Fabry's disease. The pains may be so severe that walking is often restricted. It is an X-linked disease and other manifestations include maculopapular rash on the body, red angiectases under the nail beds, and renal impairment. Fabry's disease and hereditary sensory and autonomic neuropathy are discussed in detail elsewhere.33,34

Hereditary (or primary) erythromelalgia, an autosomal dominant painful neuropathy, characterized by reddening of the skin and a burning sensation in the extremities, has been shown to be due to a gain of function mutation in the SCN9A gene, which encodes the Nav1.7 sodium channel.35' 36 The mutation in the ion channel causes a lowering of the threshold for single and high frequency action potential firing, causing hyperexcitability of the neuron and the symptoms of erythromelalgia.

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