Charcot-Marie-Tooth Disease
What is Charcot-Marie-Tooth (CMT) disease?
Charcot-Marie-Tooth disease (also called hereditary motor and sensory neuropathy) is a group of inherited conditions affect the nerves that connect the brain and spinal cord to the rest of the body. It is the most common inherited neuropathy.
Charcot-Marie-Tooth disease causes smaller and weaker muscles, as well as trouble walking and loss of feeling in the legs and feet. Symptoms usually begin in the legs and feet, but over time can affect the hands and arms. In some cases, Charcot-Marie-Tooth disease can affect the nerves that control automatic body functions, which can lead to problems with sweating and dizziness.
There are over 30 known genetic causes of Charcot-Marie-Tooth disease. There are multiple types of Charcot-Marie-Tooth disease; in some types the genetic defect damages the nerve’s core (axon) and in other types the defect affects the protective insulating layer (myelin sheath) around the axon.
People with Charcot-Marie-Tooth disease typically develop symptoms as teenagers or in early adulthood, but symptoms can start earlier or later.
What are the Symptoms of Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease impacts sensory and motor nerves. When sensor nerves degenerate, an individual may experience numbness, tingling, or pain. When motor nerves degenerate, an individual can develop muscle weakness. The most common symptoms of Charcot-Marie-Tooth disease include:
- Atrophy in the legs and feet
- Weakness in the legs, ankles, and feet
- High foot arches
- Hammertoes
- Inability to run
- Footdrop
- Tripping or falling frequently
- Clumsy walking
- Loss of feeling the legs and feet
- Decreased proprioception
- Scoliosis
- Hip displacement
- Muscle cramps
- Nerve pain
- Breathing problems (in severe cases)
- Loss or decrease in other senses, particularly vision and hearing (less common)
Symptoms can worsen when an individual has other conditions that cause nerve damage, such as diabetes, or takes certain medications (such as some chemotherapy treatments).
How is Charcot-Marie-Tooth disease diagnosed?
A healthcare professional may perform the following tests to diagnoses Charcot-Marie-Tooth disease, and determine the extent of nerve damage:
- Medical history – to see if there is a family history of the disease
- Physical examination – to assess for muscle weakness, reflexes, balance, and gait
- Nerve conduction studies – delayed or weak responses could indicate a nerve condition such as Charcot-Marie-Tooth disease
- Electromyography (EMG) – to help show which muscles are affected by the disease
- Nerve biopsy – to find the cause of the nerve condition
- Genetic testing – to look for the most common gene changes that have been identified in causing Charcot-Marie-Tooth disease
How is Charcot-Marie-Tooth disease treated?
There is no cure for the disease, but for most individuals, the disease typically worsens slowly over time and usually doesn’t shorten life expectancy. Treatments that help manage the disease include;
- Medications – to treat the pain caused by muscle cramps and/or nerve damage
- Physical and occupational therapy
- Orthopedic devises – such as leg or ankle braces and splits, and custom shoes or inserts to help with walking, or thumb splints to help with gripping and holding
- Surgery – to correct issues with the foot and improve pain
Because of its slowly progressive nature, it can be difficult to know when is the right time to file a disability insurance claim for Charcot-Marie-Tooth disease. CMT disability claims can also be difficult to prove-up, particularly when the disease is in early stages and the diagnosis is not yet clear.
If you have been diagnosed with CMT (or suspect that you might have it) and are worried that it may be impacting your ability to safely practice, it is best to speak with an experienced disability insurance attorney before making any changes to your work schedule or duties.
These posts are for informative purposes only and should not be used as a substitute for consultation with and diagnosis by a medical professional. If you are experiencing any of the symptoms described above and have yet to consult with a doctor, do not use this resource to self-diagnose. Please contact your doctor immediately and schedule an appointment to be evaluated for your symptoms.
Sources:
Mayo
National Institute of Neurological Disorders and Stroke
Cleveland Clinic
John Hopkins Medicine
