Key Takeaway
Respiratory support sometimes began before wheelchair dependency; mobility alone did not describe all disease burden in this cohort.
Evidence Summary
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Norwegian observational cohort describing genotype distribution and respiratory, cardiac, and mobility outcomes.
cohortNatural HistoryRespiratoryFamilies
Citation: Jensen SM, Müller KI, Mellgren SI, et al. Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). Neuromuscul Disord. 2023;33(2):119-132.
Main findings
- Of 153 genetically confirmed people identified, 134 were homozygous for c.826C>A. Questionnaires and records covered 101 people; 43 were examined clinically.
- Some participants needed ventilatory support before wheelchair dependency, often for sleep apnea.
- Female participants had greater cumulative probability of wheelchair dependency and ventilatory support; cardiomyopathy was associated with male sex among c.826C>A homozygotes.
Practical relevance
- Provides context for discussing respiratory and cardiac health alongside mobility with the care team.
Limitations and cautions
- Population and genotype mix limit generalization; group associations do not predict an individual's course.
- Observational findings do not establish treatment efficacy or an optimal surveillance schedule.
Primary Sources
Direct links for verification
Primary indexed record for the paper summary on this page.
Publisher DOI landing page.
Related Content
Related routes inside the site
Study Record
Norwegian LGMDR9 Cohort Study
Norwegian observational study describing FKRP-related disease epidemiology and clinical data from 101 people, published in 2023.
Guide
Clinical Features
FKRP-related disease can involve skeletal muscle, motor development, cardiac function, respiratory function, and in some severe congenital presentations, broader neurologic or structural findings. The pattern is variable, which is why the site treats phenotype as a spectrum.
Guide
Monitoring and Care
FKRP-related disease is usually managed through a multidisciplinary model. Monitoring is not only about neurology. Cardiology, pulmonology, sleep evaluation, rehabilitation, genetics, and practical family coordination all matter to safe long-term care.