Population
491 participants with Facioscapulohumeral muscular dystrophy in the Russian FSHD Patient Registry, mean age…
Design
Cohort
Key result
Analysis of the Russian FSHD registry (n=491) revealed that 76% of patients had genetic confirmation, with shoulder girdle weakness being the most common onset manifestation (45.2%).
Authors
Loading...
Registry data may aid FSHD stratification by onset; leaves open prospective validation before guiding care.
Cohort (n=491)
The Russian FSHD registry provides comprehensive characterization of a large national cohort, identifying distinct disease progression trajectories useful for patient stratification.
Kuchina et al. (2026) conducted a cohort in Facioscapulohumeral muscular dystrophy (FSHD) (n=491). Facioscapulohumeral muscular dystrophy (FSHD) was evaluated on Clinical characteristics and disease progression trajectories. Analysis of the Russian FSHD registry (n=491) revealed that 76% of patients had genetic confirmation, with shoulder girdle weakness being the most common onset manifestation (45.2%).