ABSTRACT
With the major advances in understanding hereditary neuropathies at the molecular genetic level in recent years, there has been a tendency to classify the hereditary neuropathies based on the underlying genetic disorders. Thus, the term Charcot-Marie-Tooth (CMT) disease has become more popular in the literature of genetics. Because a genetic defect has not been found for all of the HMSNs, classifications using only CMT unfortunately do not include all the clinical syndromes (Table 10.1). Thus, both HMSN and CMT classifications are combined in this chapter. With the recent availability of the molecular genetic diagnostic test, the usefulness of nerve biopsy in the diagnosis of hereditary neuropathy has been considerably reduced.
