With a prevalence of 1 in 2500 people, inherited peripheral nerve diseases, collectively called Charcot-Marie-Tooth disease (CMT), are among the most common inherited neurologic disorders. Patients with CMT typically present with chronic muscle weakness and atrophy in limbs, sensory loss in the feet and hands, and foot deformities. Clinical similarities between patients often require genetic testing to achieve a precise diagnosis. In this article, the author reviews the clinical and pathologic features of CMT, and demonstrates how electrodiagnostic and genetic tools are used to assist in the diagnosis and symptomatic management of the diseases. Several cases are presented to illustrate the diagnostic processes.
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Univ Newcastle, Mitochondrial Res Grp, Sch Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandUniv Newcastle, Mitochondrial Res Grp, Sch Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
Yu-Wai-Man, P.
Griffiths, P. G.
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Royal Victoria Infirm, Dept Ophthalmol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, EnglandUniv Newcastle, Mitochondrial Res Grp, Sch Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
Griffiths, P. G.
Hudson, G.
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Univ Newcastle, Mitochondrial Res Grp, Sch Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandUniv Newcastle, Mitochondrial Res Grp, Sch Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
Hudson, G.
Chinnery, P. F.
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Univ Newcastle, Mitochondrial Res Grp, Sch Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
Univ Newcastle, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, EnglandUniv Newcastle, Mitochondrial Res Grp, Sch Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England