WHAT IS CMT?
A disease of the peripheral nerves that control muscles (unlike the muscular dystrophies, which affect the muscles themselves). [1,2]
Before molecular biology and genetic testing, CMT disorders were broadly classified into Type 1 (with abnormally low nerve conduction velocities, suggesting demyelination) and Type 2 (with normal nerve conduction velocities, suggesting axonal or neuronal degeneration). Found in both genders and in all races and ethnic groups, it is the most commonly inherited peripheral neuropathy, affecting 2.8 million people worldwide. This rare, inherited, slowly progressive neuropathies that came to be known as Charcot-Marie-Tooth (CMT) disorders were described independently in 1886 by Charcot and Marie in France and by Tooth in the UK. Onset can occur at any age but is most frequent in the first and second decades of life [1,2].TRY CMT AWARENESS MONTH SOCIAL MEDIA FRAME!
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WHAT ARE THE FIRST SIGNS OF CMT?
First symptoms of CMT include frequent steppage gait, clumsiness and “burning” sensations in the feet or hands. Musculoskeletal pain, ankle sprains/fractures, and poor quality of life are common. The main symptoms of CMT1A are weakness of the feet and ankles, symmetric muscle atrophy below the knees, gait impairment, and distal sensory loss.
Abnormal sensation in the extremities and an inability to sense where one’s body is in space are also common. Poor tolerance for cool or cold temperatures is typical and many people have chronically cold hands and feet. Additional symptoms may include fatigue, sleep apnea, breathing difficulties, scoliosis, kyphosis and hearing loss.Is there a treatment for CMT ?
There are currently no curative or disease-modifying treatments for CMT1A. Patient management is conservative, with physiotherapy, occupational therapy, technical aids, orthoses, pain treatments and rarely orthopedic surgery [4].
There are a number of drugs under clinical development, meaning that it may soon be even more important to identify patients with this disease [5,6].MOBILIZATION TO REDUCE DIAGNOSTIC WANDERING
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Who can help you find out more ?
Some of general practitioners, neurologists and podiatrist may be aware of the CMT existence, specific signs and medical care. Unfortunately, diagnostic errors are still very often nowadays.
During the awareness campaigns and at periods throughout the year, each European association provides information and advice for you or your familySILENCE IS NO LONGER POSSIBLE!
Contact-us
ECMTF / Fondation Universitaire
11 Rue D’Egmont – B-1000 Brussels – BelgiumPresident: Filippo Genovese
Vice President: Ingolf Pernice