CMT2A (which is the axonal motor and sensory form of Charcot-Marie-Tooth disease, CMT), is caused by a mutation in the MFN2 mitochondrial gene, which is responsible for the codification of Mitofusin 2 protein.
The name Charcot-Marie-Tooth syndrome identifies a rare disease affecting the peripheral nerve cells responsible for the control of motor and sensory functions, resulting in a severe neurological disorder.
People affected by CMT2A suffer from sever motor impairment, muscular weakness and other physical conditions. As a result, they are no longer able to be self-sufficient.
For more detailed information about clinical aspects of the disease, please visit our DISEASE & RESEARCH section.
DO YOU HAVE A DIAGNOSIS ALREADY?
Do you suffer from signs and symptoms similar to the ones described here, but you don’t know which disease you suffer from?
Do you know anybody suffering from similar conditions but who hasn’t found an answer to their problems yet?
Contact us, we’ll try and figure it out together!
A CORRECT DIAGNOSIS is essential to identify the RIGHT TREATMENT!
Since CMT2A symptoms are common to several other pathologies and clinical statuses vary, it is often difficult to get a correct diagnosis straight away. Moreover, the MFN2 gene has only been discovered recently and its functions are still under investigation.
Diagnosed CMT2A patients to date total just a few in Italy and abroad, but recent studies suggest that there might be hundreds and even thousands of CMT2A patients worldwide.
Therefore, in order to create a significant group and get the attention of researchers and the pharmaceutical industry, it is essential to identify new cases, even if they have not been diagnosed yet.
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