Childhood onset Charcot-Marie-Tooth disease 

27 January 2022

Delivered by Isabella Moroni

Isabella Moroni earned her MD and specialization in Neurology at the University of Milan, then she moved to the Fondazione IRCCS Istituto Neurologico Carlo Besta, working in Child Neurology –  Department of  Pediatric Neurosciences.  

Her main areas of clinical and research activity include the care of patients affected with rare genetic diseases of the peripheral and central nervous system, including neuromuscular and metabolic disorders, with the specific aims of: selection of patients with specific phenotypes to address for identification of new genetic forms; definition of natural history and standardization of disability and quality of life specific scales for children with rare hereditary disorders; observational and interventional trials in collaboration with National and International Networks.  

Isabella will provide an updated overview on infantile onset forms of Charcot-Marie-Tooth disease. These are rare neuropathies presenting with heterogeneous clinical phenotypes and causing variable degrees of impairment and disability since infancy, when they can be associated with central nervous system involvement or present with peculiar clinical features representing useful keys prompting a rapid genetic diagnosis.  

 

Further details

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission


“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern