Wobbling, falling, tired, in pain … ever heard of Charcot-Marie-Tooth?
Throughout September, a charity is raising awareness of a little known, genetic, neurological disorder called Charcot-Marie-Tooth (CMT) that can cause uncontrollable pain, chronic fatigue and deformities in the lower legs and feet, leading to balance problems and falls.
Charcot-Marie-Tooth UK launches CMT Awareness Month 2018 on Saturday 1 September.
Leading neurological expert, Professor Mary Reilly*, estimates around 23,000 people in the UK have Charcot-Marie-Tooth, which is named after the three scientists who discovered it.
Steadily progressive, it causes muscle weakness and wasting in the lower legs and hands, 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 shoelaces, 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 wheelchair bound.
What’s more, as the NHS has been forced to tighten its purse strings, Charcot-Marie-Tooth UK says some members with the condition are being denied vital referrals to specialists who may be able to delay or even improve their symptoms.
CMT UK’s chief operating officer, Karen Butcher said: “We know we aren’t the only group of people affected by NHS cuts, but they are impacting our members, as cost-conscious GPs fail to refer them to experts who could make real improvements to their quality of life.
“For example, physiotherapy can help people with CMT by strengthening their muscles, but some people still haven’t been referred and they can’t afford to go privately. In July, The Lancet reported that ‘progressive resistance exercise’ proved beneficial in not only slowing the progression of muscle weakness but also increasing muscle strength. Thankfully, there are things that can be done for those with CMT but they do need specialist care and advice. As a charity supporting people with CMT, it is our role to speak up on their behalf and help them with the challenges they face.
“In addition to this, we also offer advice and support to those who think they might have the condition, but haven’t been diagnosed yet. Sometimes the symptoms aren’t so obvious, but due to the fact that CMT affects the hands and feet, it could be they have trouble balancing, find they regularly trip or fall over and are constantly tired. For some women, a telling sign is that they can’t wear high heel shoes due to high arches and hammer toes.
“Of course, while all of this could mean so many other things, if you have any of these symptoms then it would be a good idea to ask your GP about CMT. Early, accurate diagnosis can improve the lives of those with the condition as it can be managed more effectively. In addition, because CMT is genetic and there’s a 50% chance it can be passed on from a parent to a child, then professional genetic counselling can also be received so the risks to the next generation can be learned.”
Professor Mary Reilly is consultant neurologist at the MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, and is also Patron of Charcot-Marie-Tooth United Kingdom. She 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 disease. These lead to a range of orthopedic 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.”
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.