RYR1-related myopathy
MONDO:0100150A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.
Also known as: RYR1-related disease, RYR1-related disorder, RYR1-related myopathy, neurological muscular channelopathy due to a genetic ryanodine receptor defect
44 clinical trials for this condition and its sub-types.
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Broader categories
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New scale could help predict fall risk for hospital patients in turkey
Diagnosis CompletedThis study tested a Turkish version of the Johns Hopkins In-Room Independence Scale, which measures a patient's ability to move, use the toilet, and think clearly while in their hospital room. Researchers worked with 100 adults who had conditions like stroke, Parkinson's, or ampu…
Sponsor: Sisli Hamidiye Etfal Training and Research Hospital • Aim: Diagnosis
Last updated Jun 27, 2026 09:08 UTC
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Physiotherapy students test muscle relief techniques on themselves
Symptom relief CompletedThis study looked at how common muscle and posture problems are in physiotherapy students and whether a special physiotherapy program could help. 44 students with back pain and muscle tightness received treatments like trigger point release, stretching, and joint mobilization. Th…
Phase: NA • Sponsor: Charles University, Czech Republic • Aim: Symptom relief
Last updated Jun 27, 2026 08:13 UTC
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Who should control your sedation during surgery? new study compares options
Symptom relief CompletedThis study looked at whether letting patients control their own sedation during arm surgery under regional anesthesia leads to higher satisfaction compared to having an anesthesiologist control it. 70 adults having upper limb orthopedic surgery were randomly assigned to either pa…
Phase: NA • Sponsor: GCS Ramsay Santé pour l'Enseignement et la Recherche • Aim: Symptom relief
Last updated Jun 27, 2026 07:59 UTC
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New turkish health survey could improve care for muscle and joint problems
Knowledge-focused CompletedThis study translated the Generic Functional Index, a questionnaire that measures how well people can do daily activities, into Turkish. Researchers tested it with 200 adults who have muscle or joint problems to see if it is accurate and reliable. The goal is to give Turkish-spea…
Sponsor: Istanbul Bilgi University • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 UTC
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Scientists track rare muscle disease to unlock its secrets
Knowledge-focused CompletedThis study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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Physios take on ER duty: study tests if they can replace doctors for back pain
Knowledge-focused CompletedThis study tested whether specially trained physiotherapists can safely diagnose and treat non-urgent muscle and joint pain in the emergency room, compared to standard care from doctors. 102 patients with back, neck, or shoulder pain were randomly assigned to either a physiothera…
Phase: NA • Sponsor: Bern University of Applied Sciences • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Can CRPS patients imagine movement? new study investigates
Knowledge-focused CompletedThis completed study compared how well people with complex regional pain syndrome (CRPS), people with other muscle or bone pain, and healthy individuals can imagine movements. Researchers used a questionnaire called the MIQ-RS to measure motor imagery skills. The goal was to see …
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nīmes • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Mind, spirit, and pain: new study explores what chronic pain patients really believe
Knowledge-focused CompletedThis study surveyed 116 adults with chronic pain at a rehabilitation clinic to understand how their pain beliefs, spiritual well-being, and attitudes toward complementary and alternative medicine are related. Participants filled out several questionnaires about their pain, mood, …
Sponsor: Gulseren Demir Karakilic • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC