Article

Charcot-Marie-Tooth (CMT) disease, which encompasses several hereditary motor and
sensory neuropathies, is one of the most common neuromuscular disorders. Our
understanding of the molecular genotypes of CMT and the resultant clinical and
electrophysiological phenotypes has increased greatly in the past decade.
Characterized by electrodiagnostic studies into demyelinating (type 1) and axonal
(type 2) forms, subsequent genetic testing often provides an exact diagnosis of a
specific subtype of CMT. These advancements have made diagnostic paradigms fairly
straightforward. Still, the nature and extent of neuromuscular disability is
often complex in persons with CMT, and no curative treatments are yet available.
Genotypically homologous animal models of CMT have improved exploration of
disease-modifying treatments, of which molecular genetic manipulation and stem
cell therapies appear to be the most promising. Research is also needed to
develop better rehabilitative strategies that may limit disease burden and
improve physical performance and psychosocial integration. Clinical management
should be multidisciplinary, including neurologists, physiatrists,
neurogeneticists, neuromuscular nurse practitioners, and orthopedists, along with
physical and occupational therapists, speech-language pathologists, orthotists,
vocational counselors, social workers, and other rehabilitation clinicians. Goals
should include maximizing functional independence and quality of life while
minimizing disability and secondary morbidity.
CI - Copyright (c) 2014 American Academy of Physical Medicine and Rehabilitation.
Published by Elsevier Inc. All rights reserved.

Langue : ANGLAIS