The Rare Neuromuscular Disorders (R-NMD) Research Group focuses on juvenile and adult neuromuscular disorders and the main objective is to contribute to early detection and diagnostics of disease, better treatment and multidisciplinary care for the people affected by the rare neuromuscular disorders and their relatives. The research group is closely linked with the unit for inborn and hereditary neuromuscular disorders (EMAN) at Oslo University Hospital. EMAN is part of the National Consortium for Rare Neuromuscular disorders. We are also members of Euro-NMD and the group leader is Board-Member from Norway.

Group leader is Senior consultant in Neurology and Clinical Neurophysiology MD, PhD Kristin Ørstavik.
Responsible for pediatric research is Senior Consultant in Pediatric Neurology MD. PhD Sean Wallace.

• Nor-SMA - The safety and efficacy of nusinersen in Norwegian pediatric patients with Spinal muscular atrophy (SMA). PI Sean Wallace
• Adults with SMA-follow up of treatment with nusinersen. PI Trine Haug Popperud.
• Symptoms, outcome measures and treatment of upper limb function in Myotonic Dystrophy type 1. PhD project. The project consists of three substudies;
  1) Translation, reliability and validity of the Norwegian version of ABILHAND-NMD and ACTIVLIM for people with Myotonic Dystrophy type 1. Published in July 2023 
  2) Symptoms and Outcome Measures for Upper- Limb Function in Myotonic Dystrophy Type 1 (SOUL-DM1). Symptoms and Outcome Measures for Upper- Limb Function in Myotonic Dystrophy Type 1 - Full Text View - ClinicalTrials.gov. Data collection will be finalized in 2024. PI Kristin Ørstavik
  3) Technology Assisted Rehabilitation for Upper Limb Function in Myotonic Dystrophy Type 1 (Technorehab). Technology Assisted Rehabilitation for Upper Limb Function in Myotonic Dystrophy Type 1 - Full Text View - ClinicalTrials.gov. Data collection is finalized in 2023. PI Hilde Robinson
• Recovery post resistance exercise in DM1-patients-collaboration with National School of Sports PI professor Truls Raastad.
• Heart transplantation due to cardiomyopathy– causes including hereditary neuromuscular disorders-The Heart-Musc-study. PhD-project. PI Kristin Ørstavik
• Hypokalemic periodic paralysis – impact of dietary intake and physical activity. PI Marianne Nordstrøm.
• Health literacy and self-efficacy in persons with rare disorders and their family caregivers – a nation-wide multicentre study (HL-RARE)-Frambu responsible, collaboration with other Centers for Rare disorders
• CMT and physical activity- a qualitative study. PI Kristin Ørstavik
• Explain-AMC – in collaboration with TRS, Sunnaas Hospital
• Pregnancy and Neuromuscular disorders-in collaboration with Haukeland University Hospital
• Personalised Training for People with Rare Neuro Muscular Disorders- PETRA-NMD – a national project on the effect of exercise on muscle function and balance in three different NMD. PI Kristin Ørstavik