The Russian FSHD registry: a first look at the cohort

Q: What is the clinical evidence from this study?

Study design: Cohort. Population: Facioscapulohumeral muscular dystrophy (FSHD) (n=491). Intervention: Facioscapulohumeral muscular dystrophy (FSHD). Primary outcome: Clinical characteristics and disease progression trajectories.

Q: What does this research mean for the field?

In the Russian FSHD population, shoulder girdle weakness is the most common initial manifestation (45.2%), and disease progression clusters into three distinct trajectories with a D4Z4 repeat distribution similar to Asian cohorts. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.NEUTRAL.

Anna Kuchina; Darya Sherstyukova; Artem Borovikov; Margarita А. Soloshenko; Nikolay V. Zernov; Dmitrii Subbotin; Е. Л. Дадали; И. В. Шаркова; G. E. Rudenskaya; Sergey I. Kutsev; Mikhail Skoblov; Aysylu Murtazina

doi:10.1007/s00439-026-02865-y

August 8, 2026Human GeneticsOpen Access

The Russian FSHD registry: a first look at the cohort

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Key result

Russian FSHD registry reveals ~76% genetic confirmation with shoulder girdle weakness as primary disease onset.

n=491

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Why the study?

The Russian FSHD Patient Registry was established to provide a comprehensive characterization of a large national cohort of patients with facioscapulohumeral muscular dystrophy using genetic confirmation and clinical data.

Key Points

To characterize the demographic, genetic, and clinical features of patients with facioscapulohumeral muscular dystrophy in a large nationwide registry.
Analyzed data from 491 patients (51% male; mean age 38.2 years, range 0–97 years) enrolled in the Russian FSHD Patient Registry established in 2019.
Performed genetic confirmation using PCR-based testing for FSHD type 1 or 2 in 76% of participants (n = 373) and measured D4Z4 repeat units.
Evaluated clinical assessment forms (n = 279), patient-reported questionnaires (n = 134), and conducted delta-adjusted cluster analysis (n = 187) to map disease progression trajectories.
D4Z4 repeat units ranged from 1 to 10, with 3, 5, and 6 repeats being equally predominant, demonstrating a moderate inverse correlation with clinical severity scores.
Shoulder girdle weakness served as the primary onset manifestation in 45.2% of patients, followed by facial weakness in 34.4%.
Cluster analysis delineated three distinct progression trajectories, including a slowly progressive subgroup where facial muscle involvement occurred only at advanced stages.

Study Design

Type

Cohort (n=491)

Structured PICO

P

Population

491 patients with facioscapulohumeral muscular dystrophy in the Russian national registry, 76% of whom had genetic confirmation.

O

Outcome

Clinical characteristics, genetic confirmation rates, D4Z4 repeat unit distribution, and disease progression trajectories

The Russian FSHD registry provides comprehensive characterization of a large national cohort, identifying distinct disease progression trajectories useful for patient stratification.

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Implication

Registry data may aid FSHD stratification by onset; leaves open prospective validation before guiding care.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disorder. The Russian FSHD Patient Registry was established in 2019 following the development of a PCR-based method for genetic confirmation of the diagnosis. The registry included 491 participants, of whom 51% were male. The mean age was 38.2 years (range 0-97 years), indicating a younger cohort compared to international data. Genetic confirmation of FSHD type 1 or type 2 was achieved for 76% of participants (n = 373). The remaining participants had not yet undergone genetic testing and were included based on clinical and anamnestic data. D4Z4 repeat units (RUs) ranged from 1 to 10, with equally predominant 3, 5, and 6 RUs, making our cohort more similar to Asian cohorts published earlier. Clinical assessment forms and patient-reported questionnaires were analyzed for 279 and 134 patients with genetically confirmed diagnoses, respectively. A moderate inverse correlation was found between RU number and clinical severity scales. Shoulder girdle weakness was the most common onset manifestation (45.2%), followed by facial weakness (34.4%). A delta-adjusted cluster analysis (n = 187) identified three distinct disease progression trajectories based on the temporal pattern of muscle involvement. The smallest cluster comprised patients with very slow progression, in whom facial muscle involvement occurred at late stages. The Russian FSHD registry provides a comprehensive characterization of a large national cohort, revealing a D4Z4 repeat unit distribution similar to Asian countries and a younger demographic profile than reported in international data. Cluster analysis identified three distinct disease progression trajectories, offering a valuable framework for improved patient stratification.

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Cite This Study

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%).

synapsesocial.com/papers/6ab09eee53e47274bbe78db1 https://doi.org/10.1007/s00439-026-02865-y

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The Russian FSHD registry: a first look at the cohort

Figures

Key Points

Study Design

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

The Russian FSHD registry: a first look at the cohort

Figures

Key Points

Study Design

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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