Annotation
Genetic aspects of Charcot-Marie-Tooth disease
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Historical perspective and nomenclature |
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In 1886 Drs Charcot and Marie of France and Dr Tooth of England
described patients with an inherited form of peroneal muscular atrophy,
characterised by a progressive weakness and atrophy of distal muscles,
usually originating in the feet and lower legs and progressing to the
hands and forearms
a disorder now known as Charcot-Marie-Tooth (CMT)
disease. Early literature attested to the existence of several distinct
disorders in addition to CMT disease, including Dejerine-Sottas
syndrome (DSS) and Roussy-Lévy syndrome, but histopathological
evidence combined with the advent of electrodiagnostic testing and
molecular investigation have demonstrated that these syndromes are
clinical variants of CMT disease.
| Table Removed (Available Only in the Full Text) |
The term CMT disease is now applied to a range of hereditary peripheral
neuropathies, with a population prevalence of approximately one in
2500, which are able to be differentiated at several levels. None the
less, the nosology surrounding CMT disease remains confusing and is
further confused by the term hereditary
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