Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.

The neuronal forms of hereditary motor and sensory neuropathy (HMSN) are genetically heterogeneous with observed autosomal dominant, autosomal recessive and X-linked dominant inheritance. All three forms are characterized by degeneration of select populations of motor and sensory neurons with accompanying atrophy and degeneration of their axons. Large calibre myelinated fibres are predominantly affected and fibre degeneration and fibre loss progresses from distally to proximally. Attempts of regeneration are noted in all except the severe childhood form. The clinical picture is that of peroneal and distal leg muscle wasting and weakness, distal sensory loss and areflexia. Hand muscles may be severely affected in the autosomal recessive and X-linked dominant forms. Motor and sensory nerve conduction velocities are only moderately slowed and evoked maximum compound motor and sensory amplitudes are reduced according to the degree of fibre loss. The gene locus remains unknown in both the autosomal dominant and autosomal recessive types. For the X-linked dominant HMSN, the gene locus has been mapped closely by linkage analysis to DNA loci in the pericentromeric region of the X-chromosome.