A Guide to Charcot-Marie-Tooth (CMT) Disease 

Human beings currently face hundreds of different kinds of diseases. Some are much more commonly known and understood, such as cancer and diabetes. The more we’re able to understand a disease, the easier it becomes for us to navigate through its impacts. 

However, there are many lesser-known diseases that many people suffer from. One such illness is Charcot-Marie-Tooth (CMT) disease. In this article, we will talk about what CMT disease is and how to navigate through it as a means of support and awareness if you or someone you love suffers from it. 

What is CMT Disease? 

CMT disease refers to a group of disorders that are genetically inherited and cause damage to the peripheral nervous system. These nerves are responsible for transmitting signals to and from the brain, spinal cord, and other parts of the body. This disease can directly impact the nerves responsible for muscle control. 

CMT is also called Hereditary Motor and Sensory Neuropathy, which is one the most common genetically inherited neurological disorders. It is estimated that this disease has affected over 2.6 million people worldwide.

What Are the Symptoms of CMT Disease?

The most prominent symptom of CMT disease is progressive muscle weakness. Usually, muscle weakness first becomes well-known in the feet and lower legs. Eventually, muscle weakness can occur in different body parts, such as arms and hands. With CMT disease, some patients may also experience difficulty with balance and walking. The symptoms of CMT disease usually start appearing in early adulthood but can affect patients at any age. 

Types of CMT 

It is important to note that there is more than one type of CMT. The types are classified based on genetic cause and inheritance patterns. Different types of CMT have different ages of onset, which may impact the severity of the symptoms caused by the disease. The kinds of CMT include:

• CMT1: This is the most common type and is caused by defective genes, causing the myelin sheath to break down slowly. 
• CMT2: This type is less severe and less common than CMT1. Axonal defects cause it.
• CMT3: Also known as “Dejerine-Sottas Syndrome,” is a severe type of CMT that affects the myelin sheath, resulting in severe muscle weakness in early childhood. 
• CMT4: A severe type of CMT caused by inherited gene mutations in an autosomal recessive pattern, which develops in early childhood and can eventually lead to the loss of ability to walk. 
• CMTX: This type is caused by a mutation in the X chromosome. It more commonly occurs in men. 

It is essential to understand that each type characterizes itself through different symptoms, and some people may inherit more than one type of CMT, which creates more complexity. 

Diagnosis of CMT Disease

The first step towards diagnosing CMT disease is a physical examination process. Understanding family history and undergoing genetic testing is another critical component of diagnosing CMT disease. You may need to undergo procedures such as nerve conduction studies and nerve biopsy to understand the type of CMT you’re suffering from.

You may initially have many questions and anxiety surrounding your diagnosis. For example, you may even wonder what CMT2 is if that’s the type you’re diagnosed with. The most important thing is that you stay relaxed and focus your energy on healing and treatment. 

Treatment of CMT Disease

Currently, there is no cure for CMT diseases. However, treatments are now available that focus on managing your symptoms. Some options include physical therapy, orthopedic devices such as leg and ankle braces that provide increased stability for walking, and medication prescriptions for pain management. 

Endnote

Some people may never know that they’re suffering from a genetically inherited disease like CMT unless they develop debilitating symptoms. It is crucial to understand such diseases and provide support to those suffering from them. There are many tools available now for diagnosing such diseases, many forms of genetic testing to ensure that other family members are not at risk, and a range of treatment options for relief and pain management.