Finnish Neuromuscular Club Meeting 4 December

Finnish Neuromuscular Club Meeting 4 December 2020

DIAGNOSTICS AND BIOMARKERS IN NEUROMUSCULAR DISORDERS
PROGRAMME
9.00-10.30 Session I: Multidisciplinary care of NMD patients
Chairs: Mari Auranan and Pirjo Isohanni

• 9.00-9.45 Pulmonological care of adult and pediatric NMD patients. Docent Turkka Kirjavainen, Pediatric Pulmonologist, and Hanna-Riikka Kreivi, MD, PhD, Pulmonologist, Helsinki University Hospital
• 9.45-10.15 Transition of care for adolescents from pediatric to adult health services - points of view of a rheumatologist. Heikki Relas, MD, PhD, Rheumatologist, Helsinki University Hospital
• 10.15-10.30 Presentation by Pharma

10.30-10.45 Break
10.45-13.00 Session II: LGMD diagnostics and gene therapies
Chair: Carina Wallgren-Petterson

• 10.45-11.45 Clinical and MRI features of Pompe disease and sarcoglycanopathies. Prof. Jordi Diaz Manera, Neurologist, John Walton Muscular Dystrophy Research Centre, University of Newcastle, UK
• 11.45-12.15 Late-onset Pompe disease in Finland; an update 2020. Markus Lindroos, MD, PhD, Vasa Central Hospital
• 12.15-12.45 Gene therapies – Current status. Docent Kirmo Wartiovaara, Clinical Geneticist, Helsinki University Hospital
• 12.45-13.00 Presentation by Pharma

13.00-13.45 LUNCH

13.45‐16.15 Session III: Scientific presentations – genetics and diagnostics (10 min. each)
Chair: Emil Ylikallio
• Thick filament dysregulation in nemaline myopathy: Julien Ochala, King’s College London
• ATL1 gene defect and variable clinical phenotype: Docent Johanna Palmio, Neurologist, Tampere University Hospital; Docent Pirjo Isohanni, Pediatric Neurologist, HUS; Prof. Henna Tyynismaa, University of Helsinki
• ITPR3 is a new disease gene for peripheral neuropathy: Julius Rönkkö, University of Helsinki
• CANVAS- a recently identified cause of unsteadiness, sensory neuropathy and chronic cough: Manu Jokela, Turku University Hospital
• Dominant neuromyopathy due to DNAJB2 mutation: Jaakko Sarparanta, Folkhälsan Research Center / University of Helsinki
• Nutritional status and functioning of patients with nemaline myopathy and related disorders: A pilot study: Vilma-Lotta Lehtokari, Folkhälsan Research Center
• Haplotype and variant phasing of large muscle genes with linked-read sequencing: Johanna Lehtonen, Folkhälsan Research Center
• Blood biomarkers of late onset spinal muscular atrophy: Julius Järvilehto, University of Helsinki
• SMPX distal myopathy: Anna Vihola Naukkarinen, Folkhälsan Institute of Genetics
• Report of a potentially interesting case: Maria Haanpää, TYKS
• Improved diagnostic output in large sarcomeric genes: Marco Savarese, Folkhälsan Research Center

16.15-16.30 Future prospects and end of the day
Chairs: Docents Wallgren‐Pettersson, Mari Auranen, Pirjo Isohanni