NMD - European Reference Networks Neuromuscular Diseases

Although rare neuromuscular diseases (NMDs) include a broad group of diseases with overall prevalence of 1/3500-1/2500 that represent a major cause of mortality and morbidity in children and adults. Their rarity and diversity pose specific challenges for healthcare provision and research, and for the development and marketing of therapies.
While individually each disease is rare, NMDs collectively affect an estimated 500,000 patients in Europe and result in life-long disabilities with significant costs for families and the healthcare system. This European Reference Network covers the following disease groups: 
- Rare muscle diseases
- Rare peripheral nerve diseases
- Neuromuscular junction disorders
- Motor neuron diseases
- Mitochondrial diseases
The onset of symptoms varies from neonatal age to late adulthood, the clinical presentation may include motor and sensory deficits and sometimes respiratory and cardiac failure.  A common denominator of all NMD is progressive strength deficits and progressive accumulation of disability with high social impact and heavy impacts on the quality of life of patients and families.  
There are still significant disparities in access to diagnostic and therapeutic processes between European countries. The greatest challenges to improving patient outcomes are the need to reduce the delay with which patients are referred to specialized referral centers and the development of an efficient programs to transition the care of these patients from pediatric to adult teams.
The ERN EURO-NMD brings together European leaders in the field to enable patients to access specialist care through in-person consultation or through teleconsultation systems. The ERN EURO-NMD has set a goal, in the first 5 years, to reduce time to diagnosis by 40%, and improve diagnostic capabilities by 15% and increase patient access to appropriate diagnostic and therapeutic pathways.