ABOUT US

We are an italian and international group of patients affected by hereditary neuropathy
caused by a mutation in a protein called MITOFUSIN 2 (MFN2). This pathology is one of the many forms of Charcot-Marie-Tooth disease (HMSN), and it is defined as type 2A in its standard CMT2A2/HMSN2A2 form and in its clinical variants (HMSN V/CMT V­; HMSN VI /CMTVI; AR-CMT2).

The disease evolves slowly, and it is very disabling for the patient.

Our aim is to get in touch with other patients and families living with this condition and creating a support network through exchanging information and sharing our experiences.

Download our brochure (ENG) Notre brochure (FR) Nuestro folleto (ES)

THE DISEASE

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 (CMT) 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?
Conosci qualcuno che ha gli stessi problemi e nessuna risposta?
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.

E-mail us at: info@progettomitofusina2.com

DISCLAIMER
This website is for information purposes.
The information and data provided in the website does not constitute medical advice and does not substitute diagnosis and treatment options provided by specialised medical professionals.
sostituire diagnosi, cure e trattamenti di professionisti medici.

OBJECTIVES

According to recent studies, the proportion of patients affected by hereditary neuropathy caused by Mitofusin 2 mutation (CMT2A) should be around 20% of all cases of Charcot-Marie-Tooth disease type 2. In figures, this would be some thousands patients in Europe and the USA.

However, diagnosed cases number just a handful (a few dozen in Italy, maybe). Patients do not have a reference network to connect with, and there is no national register of such patients.

We think it is vital for these patients to raise awareness of the disease to a wider public, as well as driving the scientific community’s attention to the issue. We are committed to our objectives by supporting and promoting scientific research.

Our 5 objectives

To meet, know and connect patients affected by this pathology worldwide. Creating a support network is vital to share information about the disease, to help solve patients’ problems and to support those who are still struggling to get a diagnosis.

Our stories

Go to the page

Giovi’s story

A family’s tale

Linda’s story

The story of Marie-Hélène (from France)

The story of Nicolas (from France)

The story of Yohan (from France)

Nigel’s story (UK)

The story of Betty and her child from China

We are inspired and committed to promoting the UN objectives of AGENDA 2030 for Sustainable Development, in particular the objectives: GOOD HEALTH, GENDER EQUALITY, REDUCE INEQUALITIES, PARTNERSHIP FOR OBJECTIVES.