Prenatal diagnosis of Charcot-Marie-tooth disease

✍ Scribed by Roger V. Lebo

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 41 KB
• Volume: 18
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199802)18:2<169::aid-pd287>3.0.co;2-1

✦ Synopsis

Charcot-Marie-Tooth disease (CMT; Hereditary Motor and Sensory Neuropathy, HMSN), the most common genetic neuropathy, with an incidence of 1/2600 in Norway (Skre, 1974), has been reported in individuals on every continent. The multiple CMT disease categories result from mutations in at least eight different CMT genes. CMT is classified as Type I (CMT1), a demyelinating peripheral neuropathy with slow nerve conduction velocities (Dyck and Lambert, 1968), and Type II (CMT2), a neuronal disorder with normal or nearly normal nerve conduction velocities. These subtypes express similar signs of pes cavus, distal muscle weakness and atrophy, absent or diminished deep tendon reflexes, and mild sensory loss that progress slowly but inexorably. The more severe CMT1 disorders tend to be expressed in late childhood or adolescence with nearly all patients exhibiting disease symptoms by 30 years of age. The related autosomal dominant hereditary neuropathy with pressure palsy (HNPP) (Chance et al., 1993) often manifests as a recurrent, episodic demyelinating neuropathy in nerve trunks associated with compressive lesions. Recurrent attacks of paresthesia and weakness with occasional muscle-wasting abate gradually.

Diagnosis of dominant CMT1 can be completed by characterizing the mutation in one of three