Rare neurological diseases list

Centres of reference | centres de référence | centros de referencia | centri di riferimento | centros de referência | Referenz-NetzwerkeWhy are Centres of expertise and European Networks of Reference important? The new project European Network of Reference for Rare Paediatric Neurological Diseases (nEUroped) will give the answer and illustrate the usefulness of this approach. The overall objective of this new 3-year initiative is to develop a network of communication and information sharing across the field of rare nervous system disorders in children characterised by paroxysmal attacks.

nEUroped will focus on a number of these conditions, amongst which Alternating Hemiplegia of Childhood (AHC), Narcolepsy and Rare Surgically Treatable Epileptic Syndromes (RSTES), that include Cerebellar hamartomas, Hypothalamic hamartomas, Landau-Kleffner syndrome, Nodular heterotopias, Sturge-Weber syndrome, Tuberous Sclerosis and Rasmussen syndrome.

Nathan, rare disease atient | malade | paciente | paziente | paciente | Patient'nEUroped provides a unique opportunity to implement a pilot European Network of Reference, especially at a time when we are promoting the development of this type of networks for rare diseases in national and European policy agendas' says Yann le Cam, Chief Executive Officer of Eurordis. 'nEUroped is a model of partnerships between patients and physicians to create more centres of expertise and tools within networks of reference at European level. If successful, it will serve as a case study to push more in this direction'.

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Popular Q&A

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What is a rare metabolic disorder?

tamaraizmailov13,
Rare = Infrequently occurring, uncommon or unusual.
Metabolic = Of, or pertaining to the complex of physical and chemical processes involved in the maintenance of life.
Disorder = A condition in which there is a disturbance of normal functioning. That is in direct answer to your question. If you are asking for the name of one of these rare disorders, then I will offer one at random - phenylketonuria (PKU), which is an autosomal recessive disorder caused by mutation of the gene for a key enzyme involved in phenylalanine metabolism.
Hope this helps
matador 89

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