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Inherited peripheral neuropathies are genetically and clinically heterogenous neuromuscular disorders. All Mendelian types of inheritance have been reported. Unfortunately, more than 40 genes and loci are responsible for only a few clinical entities, hindering selection of candidate disease genes for mutation analysis (see the Inherited Peripheral Neuropathy Mutation Database). A clinical distinction between axonal and demyelinating types is often possible, however: pure motor or sensory neuropathies can be classified by neurologic and electrophysiologic criteria (figure). Despite this genetic and clinical diversity, there has been recent success in the development of promising therapies.1,2
According to electrophysiologic, clinical, and nerve biopsy evaluations inherited peripheral neuropathies are divided into Charcot-Marie-Tooth (CMT) …
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