Have you ever heard of Charcot-Marie-Tooth disease?
It’s the most common inherited neuromuscular disorder, and while there are thought to be around 23,000 people in the UK living with it, few people seem to have heard of it, and many are thought to be unaware they have it.
So during Charcot-Marie-Tooth (CMT) Awareness Month in September, the charity CMT United Kingdom is aiming to spread the word about the condition and its symptoms in the hope that people who are struggling with it on their own, or who don’t even know they have it and think they’re just clumsy, will now seek support.
The charity is aware of only 3,000 people with CMT and is keen to find the other 20,000 so it can offer advice on how to manage the condition.
What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth, named after the three scientists who discovered it, is a genetic condition that damages the peripheral nerves that pass signals from the brain to the muscles (motor nerves), and give information to the brain about sensations (sensory nerves) such as pain, heat, cold, touch, and where your joints are in space, which affects balance.
It can be passed from parent to child, and the chances of inheriting it depend on the specific genetic faults the parents carry.
The condition, which is also known as hereditary motor and sensory neuropathy, is steadily progressive and causes muscle weakness in the lower legs and hands, leading to problems like hammer toes, restricted mobility, uncontrollable pain, chronic fatigue, unstable ankles, balance problems, falls, and difficulty carrying out tasks needing fine motor skills, such as fastening shoelaces.
Symptoms usually appear between the ages of five and 15, although they sometimes don't develop until well into middle age or later.
Is it curable?
CMT is incurable, but those who have it have a reasonable quality of life with normal life expectancy. Early diagnosis can help sufferers manage the condition more effectively, enable physiotherapy or occupational therapy, and provide genetic counselling.
Have you got Charcot-Marie-Tooth disease?
CMT UK’s chief operating officer Karen Butcher says thousands of Britons may not know they have CMT, or may be struggling to deal with it on their own.
“Their symptoms may be very slight so they think they’re just clumsy or tired all the time,” she explains.
“It could be they’re in denial, they may have been misdiagnosed with something else or they simply don’t want any support.
“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, as well as support from us if they want it.
“We know what they’re going through and the challenges they face.”
What to do if you think you might have CMT
Consultant neurologist Professor Mary Reilly explains that CMT doesn’t describe a single disorder, but a group of conditions.
“It’s 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,” she says.
“This takes much longer than we’d like, and many people put up with CMT for a long time thinking they’re clumsy or have funny feet, suffering in silence when they could be receiving help and support.”