Hereditary Motor and Sensory Neuropathy

Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all characterized by their impact upon both afferent and efferent neural communication.

HMSN are characterised by atypical neural development and degradation of neural tissue. The two common forms of HMSN are either hypertrophic demyelinated nerves or complete atrophy of neural tissue. Hypertrophic condition causes neural stiffness and a demyelination of nerves in the peripheral nervous system, and atrophy causes the breakdown of axons and neural cell bodies.[1] In these disorders, a patient experiences progressive muscle atrophy and sensory neuropathy of the extremities.[2]


[1]Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies at eMedicine
[2]Vance, Jeffery M. (1991). "Hereditary motor and sensory neuropathies". Journal of Medical Genetics. 28 (1): 1–5. doi:10.1136/jmg.28.1.1. PMC 1016739. PMID 1999826.

The search result for the NDD Category "Hereditary Motor and Sensory Neuropathy"
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RF_ID Disease Name Species RF_Name Association Condition PMID
226 Hereditary Motor and Sensory Neuropathy human PMP22 RF 17p11.2 duplication 9183252
226 Hereditary Motor and Sensory Neuropathy human PMP22 RF 17p11.2 duplication 8179301