Is CMT more common in males or females?

Because GJB1 and these other known and unknown genes that cause CMTX are located on the X-chromosome, CMTX primarily affects males, however in CMTX1 and CMTX6 feature an X-linked dominant inheritance with males being more severely affected than females.

Can females get CMT?

A woman with the defective X chromosome will usually have no or very mild symptoms because the other healthy X chromosome counters the effect of the defective one. But there's a 50% chance she'll pass on the defective gene to her son and he'll develop CMT.

Can CMT be passed from mother to son?

Genetic Mutations

Some people will have a change in a gene that makes it different from everyone else's. This change is called a mutation. Some genetic mutations are hereditary, meaning they can be passed down from a parent to their child. CMT is caused by hereditary genetic mutations.

What percentage of the population has CMT?

Frequency. Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 3,300 individuals.

Can CMT skip generations?

CMT does not skip generations genetically. For people with autosomal dominant and X-linked conditions, a person will either have the condition or not. If a parent has CMT that has been genetically confirmed, a child can be tested when that child is at least 18 years of age and with appropriate genetic counseling.

10 Things I Wish I Knew About Life With Charcot Marie Tooth Disease | Life with CMT

Who is most likely to get Charcot-Marie-Tooth disease?

Their children have a 25 percent chance of inheriting the disease. Autosomal disorders, both dominant and recessive, affect males and females equally. Other types of CMT are inherited in an X-linked fashion, meaning they are dependent on the chromosomes that determine a person's sex.

Does CMT get worse as you get older?

CMT is a progressive condition, which means the symptoms gradually get worse over time. This means it may be difficult to spot symptoms in young children who have CMT. Signs that a young child may have CMT include: appearing unusually clumsy and accident-prone for their age.

What does CMT pain feel like?

Because CMT causes damage to sensory nerve fibers (axons), people with CMT can feel tingling and burning sensations in the hands and feet, usually causing only mild discomfort but sometimes causing pain. The sense of touch is diminished, as is the ability to sense changes in temperature.

What medications make CMT worse?

There are some medications that are potentially toxic to CMT patients. The following medications are considered to be high risk: Vinca alkaloids (Vincristine), Taxols (paclitaxel, docetaxel, cabazitaxel).

What is the life expectancy of someone with CMT?

With early diagnosis and taking the necessary care, most people with CMT will live a normal life without much difficulty, although there is no denying the fact that some people have severe debilitating problems throughout their lives. Life expectancy is not usually shortened.

What is the rarest type of CMT?

CMT Type 4

All Charcot-Marie-Tooth Type 4 instances of CMT are inherited in an autosomal recessive pattern (see inheritance) and are rare in the United States (~5% of cases).

Should people with CMT have children?

Generally speaking, there is no reason why you shouldn't have children of your own. However, there are issues you need to consider. If you or your partner has CMT, you have up to a one in two chance of passing the condition onto your child.

Is CMT considered a rare disease?

There are now over 100 genes that are known to be responsible for various forms of CMT. A single gene, PMP22, when duplicated, is the cause of around 50% of cases of CMT, while damaging changes in some genes that cause CMT can be extremely rare and found only in a few families.

Can CMT be misdiagnosed?

At least half of the patients neurologist Ahmet Hoke sees at the CMT clinic have been misdiagnosed, he says. Patients with CMT typically present with muscle weakness in the feet, which can later progress to the legs, hands and forearms, and be accompanied by a loss of sensation.

How fast does CMT progress?

In children with CMT, electrophysiological changes can be detected as early as 2 years of age, with abnormally small CMAPs and progressively worsening NCV until approximately 6 years of age when it stabilizes.

Does CMT cause nerve pain?

Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. Previous studies have shown that neuropathic pain is an occasional symptom of CMT referred by CMT patients.

Does caffeine affect CMT?

avoiding caffeine (found in tea, coffee, cola and energy drinks) and nicotine (found in tobacco) if you have tremors (shaking) – they can make this worse. avoid medicines that can cause nerve damage – Charcot-Marie-Tooth UK has a list of medications to avoid or use with caution if you have CMT.

Is walking good for CMT?

Walking poles offer people with CMT not just a way to get and stay fit, but also a training aid for walking and balance. Medical studies on “pole walking” uniformly show better breathing, less stress on joints, and other significant advantages over running, including more calories burned in less time.

How do you slow down CMT?

Does CMT affect your teeth?

Charcot-Marie-Tooth (CMT) disease is a common inherited neuromuscular condition that describes a group of nerve disorders affecting movement and sensation in the arms and legs. Charcot-Marie-Tooth is named after the three doctors who discovered it. CMT disease does not cause dental symptoms.

Does CMT affect memory?

The most common cause of CMT is the duplication of a region on the short arm of chromosome 17, which includes the gene PMP22. We report a thirty-seven-year-old man with CMT disease having sleep, memory and attention disorders characterized by brief retrograde amnesia at early age.

Does CMT affect the thighs?

All types of Charcot-Marie-Tooth disease (CMT) cause degeneration of the peripheral nerves, leading to muscle weakness and some loss of sensation in the arms, legs, hands, and feet.

What is it like living with Charcot-Marie-Tooth disease?

Living with CMT can be discouraging, frustrating, and overwhelming, and may lead to sadness, loneliness, anger, and fear. It may also lead to guilt as patients may feel like others are having to work more because they are unable to.

Is Charcot foot the same as Charcot-Marie-Tooth?

Charcot foot is acquired and often caused by diabetes. Charcot-Marie-Tooth is a hereditary or inherited disorder. Both diseases can cause bony deformities and non-healing ulcers, but Charcot foot can be much more serious and requires immediate attention from a trained professional, such as a podiatrist.

Is CMT an autoimmune disease?

Is Charcot-Marie-Tooth an autoimmune disease? No, CMT is not an autoimmune disease. People with CMT have problem genes (mutations) that cause degeneration of their peripheral nerves.