Charity calls on Orthotists to help it find the missing 20,000!
Charcot-Marie-Tooth Awareness Month 2018
Charcot Marie Tooth UK is A charity that supports people with the little known, genetic, neurological disorder called Charcot-Marie-Tooth (CMT) is using its September CMT Awareness Month 2018 to raise awareness of the condition and its symptoms among orthotists
Leading neurological expert, Professor Mary Reilly, estimates around 23,000 people in the UK have CMT, which can cause uncontrollable pain, chronic fatigue and deformities in the hands, lower legs and feet, leading to balance problems and falls. The charity, Charcot-Marie-Tooth UK only knows of 3,000 with the condition and believes that some of the 20,000 remaining are still undiagnosed and suffering in silence – it is asking orthotists to help find them.
Charcot-Marie-Tooth is named after the three scientists who discovered it. Steadily progressive, it causes muscle weakness and wasting in the lower legs and feet, leading to problems like hammer toes, restricted mobility, and uncontrollable pain. The hands and fingers are also affected, making tasks needing fine motor skills, such as fastening shoe laces and buttons, very difficult. Although CMT is not life-threatening, for many, it will impact on and significantly reduce the quality of their lives, with some people even ending up as wheelchair users.
CMT UK’s chief operating officer, Karen Butcher said: “People with undiagnosed CMT may have been referred to an orthotist and we would really like them to be more aware of CMT so patients can get a quicker diagnosis if the GP has missed it.
One of our members was only diagnosed two years ago at the age of 78, having gone through most of her life never knowing why she was always in pain and tripping up and falling; she is only getting the help she needs now, at this late stage.
Orthotists should look out for patients presenting with corns, callouses or hard skin on their feet, which comes about when people have to walk on a different part of their foot due to muscle wastage in the legs. There could also be a change of shape in the foot such as a high arch or flat foot and hammer or claw toes. Patients may also mention other classic signs of CMT such as clumsiness, pain, balance problems leading to unsteadiness, trips and falls and chronic fatigue.
These signs don’t necessarily mean the patient has CMT, but it is a good indication and if CMT is suspected, then they should be told to visit their GP who can refer them to a neurologist who is able to undertake a full assessment, including nerve conduction tests, to make a diagnosis.
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.
We would also appreciate it if orthotists would refer anyone with CMT to our charity so we can offer advice on how to manage the condition as well as information on benefits, jobs and family issues.
Professor of Clinical Neurology and Consultant Neurologist at UCLH, Mary Reilly, is also Patron of Charcot-Marie-Tooth UK. She explains: “CMT has many different characteristics, but commonly there is weakening and loss of muscle and reduced sensation, predominantly in the feet and legs, but also in the hands and arms in the advanced stages of 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.
As a Professor of Clinical Neurology, whose main clinical and research interest is inherited neuropathies like CMT, I have first-hand experience of how useful and critical the input from Charcot-Marie-Tooth UK is to this patient community. The charity provides an excellent information resource for patients and everyone we see in the clinic is given its details to access its literature, website resources and online discussion forums.”
Charcot-Marie-Tooth UK offers advice on how to manage the condition as well as support with benefits, jobs and family issues. It says that while CMT is currently incurable, it can be managed effectively, so the right referrals to the right clinicians are crucial to improve the lives of those with the condition and proper genetic counselling should be received so the risks to the next generation can be learned.
CMT Awareness Month is being launched by charity Charcot-Marie-Tooth UK on Saturday 1 September 2018. Last year, the campaign received an unexpected boost when former Girls Aloud star, Cheryl Tweedy, posted on Instagram about the condition, which affects her friend’s son.
Find out more at www.cmt.org.uk or contact 0300 323 6316