Patients and Families

Patient Advocates

EURORDIS, the European umbrella organisation of patient organisations and a non-profit alliance of 798 rare disease patient organisations, has established a European Patient Advocacy Group (ePAG) for each ERN disease grouping. Patient organisations can become ePAG member organisations and patients can become ePAG representatives (2016 and onwards).

The ERN-RND ePAG comprises the following members:

Members Organisation
Cathalijne van Doorne euro-Ataxia and European Federation of Neurological Associations
Mary Kearney Friedreich’s Ataxia Research Alliance Ireland (FARA)
Tsveta Schyns-Liharska European Network for Research on Alternating Hemiplegia (ENRAH)
Astri Arnesen European Huntington Association
Robert Scholten Apeldoorn Dystonia Europe
Lori Renna Linton Euro-HSP
Amanda Rose Rare Dementia Support
John McFarlane European Polio Union

Patient Organisations

Patient organisations are non-profit organisations which are patient-focused where patients and/or carers represent a majority of members in governing bodies (European Medicines Agency, 2014). Herewith, we provide a list of national and European patient organisations that work in the disease area that is covered by ERN-RND.

Dystonia

Frontotemporal dementia (FTD)

Hereditary Spastic Paraplegia (HSP)

Neurodegeneration with Brain Iron Accumulation (NBIA)

Disease definitions

Disease specific organisations have detailed definitions of the diseases we cover on their websites, which you will find below.

Ataxia

According to euro-ataxia, "ataxia is the name given to a group of rare neurological disorders that affect balance, coordination and speech. There are many different types of ataxia that can affect people in different ways." Please find more information on euro-ataxia's website.

Dystonia

According to Dystonia Europe, "dystonia is a neurological movement disorder that causes continuous muscle contractions, leading to twisting and repetitive movements or abnormal postures." Please find more information on Dystonia Europe's website.

Frontotemporal dementia (FTD)

According to Dr Jonathan Rohrer & Dr Jason Warren from the Dementia Research Centre of the University College London, Institute of Neurology, "FTD is a group of conditions caused by loss of cells mainly in the frontal and temporal lobes of the brain. The main symptoms are a progressive change in personality and behaviour or progressive deterioriation in language abilities." Please find more information on rare dementia support's website.

Hereditary Spastic Paraplegia (HSP)

According to the HSP Research Foundation, "HSP is a broad group of inherited, degenerative disorders characterised by impaired walking due to spasticity and weakness of the legs. The primary features of HSP are spasticity and weakness with the proportions varying from individual to individual". Please find more information on HSP Research Foundation's website.

Huntington's Disease (HD)

According to the European Huntington's Disease Network, " Huntington's Disease is a rare, hereditary , degenerative disorder of the brain that was first described by George Huntington". Please find more information on the EHDN's website.

Leukodystrophies

According to the European Leukodystrophies Association, "leukodystrophies, which refers to a group of rare genetic diseases, destroy the central nervous system (brain and spinal cord) in children and adults. They affect the myelin, the white substance coating the nerves like an insulating sheath." Please find more information on the ELA's website.

Multiple System Atrophy (MSA)

According to the MSA Trust, "MSA is a progressive neurological disorder that affects adult men and women. It is caused by degeneration or atrophy (shrinking) of nerve cells in several (or multiple) areas of the brain. This can result in problems with multiple bodily functions such as speech, movement, balance and blood pressure control." Please find more information on the MSA Trust website.

Neurodegeneration with Brain Iron Accumulation (NBIA)

According to the NBIA Disorders Association, "Neurodegeneration with Brain Iron Accumulation is a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the basal ganglia." Please find more information on the NBIA Disorders Association's website.

Progressive Supranuclear Palsy (PSP)

According to the PSP Association, "PSP is a neurological condition caused by the premature loss of nerve cells in certain parts of the brain. A protein called tau builds up in certain areas of the brain and forms into clumps (neurofibrillary tangles), which are believed to damage the nerve cells." Please find more information on the PSP Association's website.

Cross-border healthcare

One of the key objectives of the ERN is to provide cross-border healthcare which means that as a patient you can access expert healthcare services in another EU country, which is not your home country.  According to the European Commission, "EU citizens have the right to access healthcare in any EU country and to be reimbursed for care abroad by their home country".

More information about cross-border healthcare can be found on the European Commission's website.