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What is Charcot-Marie-Tooth Disease
Causes
Symptoms
Diagnosis
Treatment
Pain Management
Help

To receive a diagnosis of Charcot-Marie-Tooth (CMT) disease for yourself or your child can feel unnerving and unsettling, and you may wonder what it means for your wellbeing and quality of life both now and in the future. 

Our podiatrists work alongside patients with CMT to help manage any foot and leg problems that arise so they can continue to live and work as normally and independently as possible. As the symptoms of CMT can change over time, it’s important to develop a good relationship with a podiatrist you trust to help you navigate through any challenges and hurdles.

What Is Charcot-Marie-Tooth Disease?

When you touch something soft with your fingertips, it is the sensory nerves in your fingertips that send messages to your brain to allow you to interpret what you’re touching and feeling. These are called peripheral nerves, because they’re the nerves located outside the brain and spinal cord, reaching all the way down to your hands and feet. Charcot-Marie-Tooth (CMT) describes a group of disorders that damage these peripheral nerves, affecting your ability to feel and detect sensations. As your nerves are also responsible for relaying messages between the muscles and the brain and helping turn thoughts into actions, CMT also affects muscle strength by damaging the motor nerves that control the muscles.

What Are The Symptoms Of Charcot-Marie-Tooth Disease?

As CMT affects both the sensory nerves and the motor nerves, both changes in sensation and muscle function can occur. 

Sensory changes can include being unable to detect the sensations around your feet, like when your feet touch an object, or being unable to perceive the extent of how hot, cold, sharp or blunt an object is. You may also become unable to detect vibrations, or lose the ability to accurately perceive where your body is in space - for example, closing your eyes, and being able to move your fingers to your mouth purely by ‘feeling’ where they are in space.

Motor nerve changes can lead to muscle weakness and a decrease in muscle bulk in the feet, legs, hands or arms. Weakness in the muscles of the feet and legs can cause foot drop, where the toes don’t clear the ground as you walk as the strength is missing to keep them up, which can result in a walking style that requires excessive bending at the hip and knee to try to help the foot clear the ground. This can lead to balance and stability issues, with risks of tripping and falling. Other symptoms can include:

• High arches
  
• Hammertoes
  
• ‘Inverted champagne bottle’ leg shape
  
• Problems with fine motor skills, like pinching using the fingers
  
• Muscle shortening
  
• Cramping
  
• Nerve pain
  
• Vision or hearing problems
  

How severe your symptoms are will vary greatly between people, and even between family members with the disease. Once your CMT is diagnosed, however, your team of healthcare providers will keep a very close eye on you and get on top of the new symptoms as they arise, which occurs gradually.

What Is Charcot-Marie-Tooth Disease Caused By?

CMT is hereditary, being caused by mutations in at least one of over 100 genes that are involved in producing either parts of the nerves or the nerve sheath which surrounds the nerves like an insulating cover, helping support their effective function. When parts of the nerve are affected, the nerves can’t function properly, and their signals may become blocked, leading to the symptoms of CMT.

The genes involved determine which type and subtype CMT disease a person has, with five specific subtypes being shown in studies to account for almost 90% of all genetically confirmed mutations. The type of CMT you have will influence the differences in the age that symptoms start, inheritance patterns, and which part of the nerve is involved. You’ll be informed which type you have and more information on what it means and the specific characteristics when you get your diagnosis.

CMT Disease Diagnosis

While many people are aware of their family history of CMT and have regular monitoring with their GP, other times our podiatrists may see someone looking for help with their foot drop, hammertoes, or walking difficulties related to contracted and weak muscles, and may prompt them to have a thorough assessment with their GP to rule out a CMT diagnosis.

Diagnosing CMT involves completing a neurological exam and examining a person’s medical and family histories. If CMT is suspected, you’ll receive a referral to a neurologist (a doctor that specialises in conditions affecting the nervous system) and further studies of the nerves as well as genetic testing will likely be done.

What Is The Treatment For CMT Disease?

As CMT has no cure, treatment focuses on managing the symptoms to improve a person’s quality of life, optimising comfort and mobility, and helping maintain independence and confidence. This involves a multidisciplinary approach, seeking the input of a range of health professionals, which alongside podiatrists can also include physiotherapists, occupational therapists, genetic counsellors or social workers, neurologists, orthopaedic surgeons, mental health providers and more.

Pain Management For Charcot-Marie-Tooth

The two primary types of pain in CMT are nerve pain and muscle or joint pain. Nerve pain can be difficult to manage because it can be spontaneous and unpredictable. This pain is best managed using medicines prescribed by your neurologist, though newer technologies like TENS units are showing promise in helping with neuropathic pain for certain conditions.

Muscle and joint pain should be treated on a case-by-case basis, assessing what can be done to ease the load on the joint or muscle and, depending on the severity of symptoms, either support its function or optimise comfort by best accommodating the foot. This is where your podiatrist can help. 

How We Help

Podiatrists work to optimise your independence and quality of life by helping support the muscles, joints and bones of the feet and legs that manifest the symptoms of CMT. Our goals are to:

• Help you walk with greater confidence, balance and coordination
  
• Improve your walking pattern (gait) to preserve energy and increase efficiency
  
• Slow down the progression of your symptoms, and hence the deterioration of joints and muscles
  
• Optimise muscle strength and function, particularly of uninvolved supporting muscles
  
• Reduce your pain and help you feel more comfortable on your feet

We achieve this using a range of custom services including:

• Using braces or ankle-foot-orthoses to manage symptoms such as foot drop
• Using custom-made foot orthotics to either adjust the biomechanics of your feet or accommodate their shape (depending on the severity of your symptoms), offload specific structures like prominent painful joints, add greater foot and ankle stability, and help the feet absorb shock. As each pair of orthotics is uniquely made for your feet, your orthotics will work to support your feet in the ways they  need the most
• Education - as many changes to the feet and legs are associated with CMT, and with the many risks to the feet that neuropathy carries, podiatrists are a trusted source of useful, practical information to help the best look after feet and reduce the risks associated with CMT
• Footwear recommendations or custom footwear to best protect the feet and help prevent the foot from sustaining further damage that may occur from, for example, prominent hammertoes rubbing against the tops of standard sized footwear
  
• Skin and nail care to help manage symptoms such as corns, calluses and nail problems such as thickening 
  
• Toe props or other tools to help prevent damage to the skin of the feet or legs. Toe props work by separating the toes and preventing rubbing that can lead to a painful corn
  
• Regular foot health checks to assess for any new wounds or problem areas, and address these as they arise. As nerve damage can affect your ability to feel what is happening around  your feet, this may make you vulnerable to new wounds or problems that you cannot detect, that can then become an infection risk
  
• A tailored exercise program that focuses on helping move joints and muscles through their range of motion and gentle stretching

Further Resources

To learn more about CMT and what you can expect, the experiences of others with CMT, or seek further local support, please visit CMT Australia

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