Conference schedule:

The Online EAMDA International Conference on Neuromuscular Disorders 2021 is a two-day event that will be held on Friday, October 15th and Saturday, October 16th, 2021.

First day will be dedicated to medical topics while the second day is reserved for the social part, with an emphasis on people with NMD and other non-profit organizations. Additionally, there will be satellite symposium organized for experts only.

The final conference programme is now available. Please sign in for newsletters to be promptly notified on news and other conference related activities.


Because NMD is a very complex field and we already consider a holistic approach when dealing with such neuromuscular disorders and due to the fact that people with NMD need a multidisciplinary team to get access to proper care, several diverse topics will be approached, such as:

  • Diagnosis
  • Newborn screening
  • Registries and bio-banking
  • Research
  • Treatment options
  • General care
  • Specific symptomatic care
  • Physiotherapy techniques
  • Rehabilitation
  • Pain management
  • Nutrition
  • Reference networks
  • European connectivity

Short satelite symposium curiculum:

October 15th, 2021 at 17:00 CET

Assoc. Prof. Damjan Osredkar, MD, PhD: Evidence shows that early diagnosis of SMA through newborn screening and early intervention with available disease-modifying drugs lead to better outcomes, compared to later onset treatment or natural history cohorts. However, establishing a newborn screening (NBS) program for SMA is a challenging project. An overview of the current status of NBS around the world will be given and the Slovene path to implementation will be presented.

Asst. Prof. Urh Groselj, MD, PhD: Timely, ie. presymptomatic identification of the inborn disease, which is frequently possible only by population screening of newborns, is necessary for the prevention of morbidity and mortality of patients. In Slovenia, the program of population biochemical screening of newborns had included two diseases (phenylketonuria and congenital hypothyroidism) for more than 30 years, and in the last two years an additional 17 inborn errors of metabolism were added, detected by tandem mass spectrometry and confirmatory next-generation sequencing genetic diagnostics. This year, we are already planning a second expansion of neonatal screening, to include spinal muscular atrophy, inborn errors of immunity, cystic fibrosis and congenital adrenal hyperplasia, which have not been screened in Slovenia so far. Due to significant technological developments in the last few years, screening for these diseases has become much more accessible and is now justified as a professional standard, and consequently introduced in most EU countries and the USA. Simultaneous diagnosis of these diseases from one sample of dried capillary blood on filter paper is enabled by implementing two additional diagnostic methods (real-time PCR (for spinal muscular atrophy and inborn errors of immunity detection) and autoDELFIA immunological method (for cistic fibrosis and congenital adrenal hyperplasia detection)). Expanding the neonatal screening program for these diseases has also been shown to be cost-effective. Considering the cumulative incidence of these (groups) of diseases, around 15-20 new patients with one of these diseases would be expected in Slovenia annually, but so far they have mostly remained unrecognised or recognised by the usually irreversible clinical manifestation.