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  CHARCOT-MARIE-TOOTH DISEASE  

Charcot-Marie-Tooth disease: CMT: Peroneal Muscular Atrophy: Hereditary Motor and Sensory Neuropathy

This is a genetic disorder characterised by slowly progressive muscular weakness. Onset is in the lower limbs first causing weakness around the ankles and, often, an abnormality in the shape of the feet (high in-step.) After many years, weakness may develop in the hands and spread upwards in the lower limbs to affect the knees and thighs. Mild loss of sensation may be present in the feet and hands.

The onset of the condition may be from childhood to late middle or old age.

Inheritance patterns

  • Autosomal dominant is the most common pattern of inheritance.
  • Autosomal recessive (least common)
  • X-linked passed to both sons and daughters. However, affected sons will usually display more severe symptoms.

Prenatal diagnosis
In families who have Type 1a prenatal diagnosis is now becoming available but is rarely requested.

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated August 1999 by Dr David Hilton-Jones. Last reviewed January 2004 by Dr David Hilton-Jones, Clinical Director, Muscle and Nerve Centre, Radcliffe Infirmary, Oxford, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

CMT UNITED KINGDOM

CMT United Kingdom
PO Box 5089
Christchurch
BH23 7ZX
Tel: 0800 652 6316 helpline (Mon-Fri, 8.30am-3pm)
Tel: 01202 481 161 office (Mon-Fri, 8.30am-3pm)
e-mail: secretary@cmt.org.uk
Web: http://www.cmt.org.uk

The organisation is a National Registered Charity No. 1112370, established in 1986. It offers support and advice to people with CMT and their families and a network of local groups. It publishes a newsletter three times a year and has around 1,200 members.

Group details last updated October 2007.