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. Regional and national differences in care and incomplete implementation of standards lead to international disparities and divergent outcomes for NMD patients with the same diagnosis.

This European Reference Network covers the following disease groups…

  • Rare muscle diseases
    • Acquired skeletal muscle diseases
    • Genetic skeletal muscle diseases
  • Rare Peripheral Nerve diseases
    • Inherited Neuropathies
    • Acquired Neuropathies
  • Neuromuscular Junction disorders
    • Myasthenia Gravis
    • Other autoimmune NMJ defects (Lambert-Eaton myasthenic syndrome)
  • Motor Neuron Diseases
    • Amyotrophic Lateral Sclerosis (ALS) and related diseases
    • Spinal Muscular Atrophy (SMA) and related diseases
  • Mitochondrial Diseases
    • Mitochondrial encephalomyopathies caused by mtDNA
    • Nuclear gene defects (MERRF, NARP, etc.) or causing mitochondrial the single mtDNA encephalomyopathy