Charcot-Marie-Tooth Disease

Also known as

  • Hereditary Motor and Sensory Neuropathy

This is a hereditary disorder of the peripheral nervous system. Damage to the nerves causes muscle wasting and weakness in the arms and legs, and rarely, in the diaphragm. People can be affected at all ages.

Condition details

CMT is a genetic condition that damages peripheral nerves. Because of this nerve damage, people with CMT find that some of their muscles become slowly weaker over the years, particularly in their feet and hands. Some find that feeling becomes duller, or numb, in the same areas. In the UK, around 25,000 people are thought to have CMT Other key points about CMT are that the condition are:is hardly ever life-threatening, but often becomes slowly worse over the years; comes in 80+ types, some of which are much more severe than others; can affect people very differently; can cause the muscles in the foot, lower leg, hand and forearm to become wasted and weak; can cause foot drop gait, foot bone abnormalities (e.g. high arches and hammer toes), problems with hand function, balance problems, occasional lower leg and forearm muscle cramping, and loss of some normal reflexes; may cause long-term pain and tiredness (fatigue); can be passed on from parent to child.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Can manifest in Toddler
  • Can manifest in Child 4-10
  • Can manifest in Child 10-18
  • Can manifest in Adult

Symptoms

Toddler
Lay terms Clinical terms
  • "Clumsiness"
  • occasionally delayed walking
  • difficulty standing up from a fall
  • reluctance to run or climb.
Child 4-10
Lay terms Clinical terms
  • Noticeably higher arches
  • thin legs and ankles
  • twisting ankles
  • difficulty climbing stairs
  • difficulty running
  • balance poor
Child 10-18
Lay terms Clinical terms
  • As younger child
  • more pronounced high arch (or very flat foot)
  • unstable ankles
  • curled toes
  • pain
Adult
Lay terms Clinical terms
  • curled toes
  • high arches
  • unstable ankles
  • difficulty climbing stairs
  • walking any distance
  • standing for longer periods of time
  • frequent falls
  • chronic pain and fatigue
  • difficulty with hand function - such as doing up buttons
  • holding pens etc
  • increasing reliance on ankle foot orthoses
  • walking sticks
  • and with aging
  • potentially wheelchair use. Rarely individuals can lose the ability to walk completely
  • can have scoliosis
  • vocal cord paralysis
  • breathing difficulties
  • sleep apnoea

Affected genes identified to date

  • Type 1a relates to PMP22 and accounts for 60% of all individuals. There are 80+ other types which have been identified
  • too many to list individually

Inheritance patterns

Is X-linked Is Autosomal recessive Is Autosomal dominant

Type 1X is X linked

Some rare Types 1 and 2 can have autosomal recessive inheritance

The vast majority of types are autosomal dominant

Are carriers affected?

Usually mildly affected.

How many are affected?

1 in 2500

Support groups and organisations

Mrs Karen Butcher
CMT United Kingdom
98 Broadway
Southbourne
Bournemouth
Dorset
BH6 4EH
UK
Tel 01202 432048
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Known experts

Field of interest
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