Childhood Autosomal-recessive and X-linked forms of HMSN/CMT

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Muscle Nerve. 2007 Apr 4

Autosomal-recessive and X-linked forms of hereditary motor and

sensory neuropathy in childhood.

Ouvrier R, Geevasingha N, MM.

TY Department of Neurology and Neurosurgery, Children's

Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.

The hereditary motor and sensory neuropathies (HMSNs, Charcot-Marie-

Tooth neuropathies) are the most common degenerative disorders of

the peripheral nervous system. In recent years a dramatic expansion

has occurred in our understanding of the molecular basis and cell

biology of the recessively inherited demyelinating and axonal

neuropathies, with delineation of a number of new neuropathies.

Mutations in some genes cause a wide variety of clinical,

neurophysiologic, and pathologic phenotypes, rendering diagnosis

difficult. The X-linked forms of HMSN represent at least 10%-15% of

all HMSNs and have an expanded disease spectrum including

demyelinating, intermediate, and axonal neuropathies, transient

central nervous system (CNS) dysfunction, mental retardation, and

hearing loss.

This review presents an overview of the recessive and X-linked forms

of HMSN observed in childhood, with particular reference to disease

phenotype and neurophysiologic and pathologic abnormalities

suggestive of specific diagnoses. These findings can be used by the

clinician to formulate a differential diagnosis and guide targeted

genetic testing.