September is the start of awareness month for Charcot Marie Tooth, a neurological disorder that affects around 23,000 people in the UK.
But what exactly is it? And how do you know if you have it? A charity supporting the disorder hopes that the awareness month will hopefully reach around 20,000 others in the UK who may be struggling with CMT but don’t know they have it.
Charcot-Marie-Tooth Disease, or CMT, is a group of inherited disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord.
There are 90 kinds of CMT and each kind is caused by a different kind of mutation, and more causes are being discovered every year.
Charcot-Marie-Tooth is named after the three scientists who discovered it in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
Steadily progressive, it causes muscle weakness in the lower legs and hands. This can lead to problems like hammer toes, restricted mobility, uncontrollable pain. Carrying out tasks needing fine motor skills, such as fastening shoe laces, can become a problem too. However, people with CMT have a reasonable quality of life with normal life expectancy.
In the most common kinds of CMT, symptoms usually begin before the age of 20 years. They may include:
Neurological expert Professor Reilly explains: “CMT has many different characteristics, but commonly there is a loss of muscle and touch sensation, predominantly in the feet and legs, but also in the hands and arms in the advanced stages of the disease. These lead to a range of orthopaedic complications, leading to a variety of mobility and dexterity problems, and sometimes scoliosis.
“CMT does not describe a single disorder, but a group of conditions. It is important to determine exactly what kind of CMT someone has, in order to improve their quality of life and this can only be done once a diagnosis is considered in a patient. Anecdotal evidence from CMT UK tells us this takes much longer than we would like and many people put up with CMT for a long time thinking they are clumsy or have funny feet, suffering in silence when they could be receiving help and support.”
Professor Mary Reilly, estimates around 23,000 people in the UK have CMT, which can cause uncontrollable pain, chronic fatigue, unstable ankles, balance problems and falls.
CMT UK, however, is aware of only 3,000 people with CMT and is keen to find the others so it can offer advice on how to manage the condition as well as support with benefits, jobs and family issues. In addition, the charity says while CMT is currently incurable, early, accurate diagnosis can improve the lives of those with the condition as it can be managed more effectively and proper genetic counselling can be received so the risks to the next generation can be learned.
See your GP if you think you may be developing symptoms of CMT. If your GP suspects CMT, they’ll refer you to a neurologist (a doctor who specialises in treating conditions of the nervous system) for further tests to confirm the diagnosis.
CMT UK’s chief operating officer, Karen Butcher said: “We want to support people with CMT, who could be trying to deal with the condition on their own. There will be several reasons for this; their symptoms may be very slight so they think they’re just clumsy or tired all the time, it could be they are in denial, they may have been misdiagnosed with something else or they simply don’t want any support – that’s fine too. Finally, they may not know they have CMT or what symptoms to look for so our aim this month is to tell people all about CMT and encourage them to seek medical help from their GP, as well as support from us if they want it.
“We know what they’re going through and the challenges they face, so we can answer their questions, put them in touch with other people and families with CMT and tell them where they can get practical support and advice.”
There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and even orthopedic surgery can help individuals cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed for individuals who have severe pain.
The type of treatment provided and how often it will be needed depends on the severity of the symptoms. Because CMT is a progressive disease, periodic assessments are necessary to adjust treatments to any changes in symptoms.
To find out more visit www.cmt.org.uk Charcot Marie Tooth Syndrome
Online in Sept 2016 – http://www.thefuss.co.uk/charcot-marie-tooth-disorder/
Last Updated: Thursday 15th September, 2016