Clinical features: Charcot-Marie-Tooth (CMT) disease is a group of inherited disorders, classified according to the clinical features, inheritance pattern and causative gene. The most common features include distal limb muscle weakness and wasting often associated with loss of sensation, foot drop and high-arched feet.
Prevalence: Approximately 1 in 3,300 for all types of CMT taken together.
Inheritance: Most commonly autosomal dominant. The most common form, CMT1, is inherited in this pattern. Autosomal recessive and X-linked recessive inheritance are also well documented.
Gene: Several genes are associated with this condition. Clinical assessment may help direct DNA testing. In 70 � 80% of families with CMT1 a common mutation in the PMP22 gene on chromosome 17 is identified.
Prenatal diagnosis: Rarely requested, but possible if a mutation has been identified in an affected individual. Please refer to your local clinical genetics service prior to a pregnancy. This ensures family members are offered appropriate advice and investigations, to confirm whether or not prenatal diagnosis is possible.
Presymptomatic testing: If a mutation has been identified in an affected individual.
UK Support Group: CMT United Kingdom PO Box 5089 Christchurch BH23 7ZX Tel: 0870 774 4314 Web: www.cmt.org.uk Neuropathy Trust P O Box 26 Nantwich Cheshire CW5 5FP Tel: 01270 611 828 Web: www.neurocentre.com
If you would like to access specialist information on Charcot-Marie-Tooth disease please go to:- Genetests - Charcot-Marie-Tooth
Back to genetic conditions index
