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Kolekcja: CMT

CMT to skrót od Charcot Marie Tooth Choroba to grupa dziedzicznych schorzeń, które uszkadzają nerwy obwodowe. To choroba genetyczna charakteryzująca się powoli postępującym osłabieniem mięśni. Początek choroby może przypadać na okres od dzieciństwa do późnego wieku średniego lub starości, ale najczęściej pojawia się po raz pierwszy w dzieciństwie.

Czasami nazywa się to dziedziczną neuropatią ruchową i czuciową lub zanikiem mięśni strzałkowych.

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What are the Symptoms of CMT?

The symptoms can vary depending on the type of CMT and even with the same type peple can experience it differently.

Onset is usually in the lower limbs first, causing weakness around the ankles and, often, an abnormality in the shape of the feet (high in-step, which doctors call ‘pes cavus’). Weakness may develop in the hands and spread upwards in the lower limbs to affect the knees and thighs. Mild loss of sensation may be present in the feet and hands.

In young children they may be appearing to be unusually clumsy and accident prone or have an issue walking by dragging their feet and suffer from foot drop.

As children get older, there may be a lack of sensation in arms and feet and their hands and feet maybe cold due to poor circulation. Plus, they may feel tired a lot of the time.

As CMT porgresses this can put excessive strain on the body and can lead to joint and muscle pain.

What causes CMT>

The underlying cause is a mutation (faults) in genes that cause the peripheral nerves to become damaged. Each nerve is made up of many thousands of proteins. CMT can be caused by mutations in any one of about 30 genes – although each protein that is affected is different the end result is a similar in terms of the overall symptoms experienced by an individual with CMT.

A child with CMT may have inherited the genetic fault responsible for the condition from one or both parents. The many types of CMT are caused by different genetic mutations and the faulty genes can be inherited in several different ways.

Types of CMT

There are five types of CMT; 1,2,3,4 and X. The most common is 1 which accounts for approx 70% of all cases.

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