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Facioscapulohumeral Muscular Dystrophy Epidemiology Forecast - 2034

Published Date : 2025

Pages : 60

Region : United States, Japan, EU4 & UK

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Facioscapulohumeral Muscular Dystrophy Epidemiology

DelveInsight's "Facioscapulohumeral Muscular Dystrophy (FSHD)- Epidemiology Forecast-2034" report delivers an in-depth understanding of the FSHD, historical and forecasted epidemiology as well as the FSHD trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Geography Covered

The United States
EU4 (Germany, France, Italy, and Spain) and the United Kingdom
Japan

Study Period: 2021-2034

Facioscapulohumeral Muscular Dystrophy (FSHD) Understanding

The DelveInsight’s FSHD epidemiology report gives a thorough understanding of FSHD. FSHD is a genetically acquired disease that leads to progressive muscle weakness and severely decreased functional capacity in affected individuals—understanding how epigenetic factors interplay has evolved substantially in recent years. FSHD can be classified into two subtypes based on the route in which decreased methylation and a failure of epigenetic repression occurs. About 95% of cases of FSHD are Type 1, in which D4Z4 repeats become lost. The remaining 5% of FSHD cases classify as Type 2, in which methylation and epigenetics are affected in a deletion-independent manner. Regardless of the subtype, the result of FSHD is the same.

In some individuals with FSHD, particularly those with early onset, the disorder may also be associated with hearing impairment and/or abnormalities of blood vessels within the nerve-rich, innermost membrane of the eye (retinal vasculopathy) that may, in rare cases, lead to visual impairment. The major complications in FSHD are chronic pain and impaired daily functioning, negatively impacting psychological functioning. More rarely, FSHD complications evolve to include swallowing abnormalities, hearing loss, retinal disease, and difficulty breathing.

The diagnostic criteria of FSHD have evolved from a cluster of clinical symptoms and laboratory findings to genetic analysis of suspected cases. While genetic testing is the current gold standard in evaluating patients, equivocal presentations are aided by EMG studies, MRI, laboratory tests, and muscle biopsies.

FSHD can mimic many other genetic myopathies: particularly limb-girdle muscular dystrophy, subacute necrotizing encephalomyelopathy, acid maltase deficiency, myotonic dystrophy, and polymyositis. In cases of significant symptom overlap between myopathies, genetic testing remains the standard in distinguishing between disease pathology.

Facioscapulohumeral Muscular Dystrophy (FSHD) Epidemiology

The epidemiology section provides insights about the historical and current FSHD patient pool and forecasted trends for individual seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the report also provides the diagnosed patient pool and their trends along with assumptions undertaken.

Key Findings

The disease epidemiology covered in the report provides a historical as well as forecasted FSHD epidemiology scenario in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2021 to 2034.

In the year 2021, the total prevalent cases of FSHD were 78,790 in the 7MM which are expected to grow during the study period, i.e., 2021-2034.

The disease epidemiology covered in the report provides historical as well as forecasted FSHD epidemiology [segmented as Total Prevalent Cases of FSHD, Total Diagnosed Cases of FSHD, Total Type-specific Cases of FSHD, Total Gender-specific Cases of FSHD, Total Age-specific Cases of FSHD, Total Severity-specific Cases of FSHD, and Total Treated Cases of FSHD] in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2021 to 2034.

Country Wise- Facioscapulohumeral Muscular Dystrophy (FSHD) Epidemiology

The epidemiology segment also provides the FSHD epidemiology data and findings across the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

As per DelveInsight’s estimates, in the 7MM, the highest number of total prevalent cases of FSHD were observed in the United States, with 33,500 cases in 2021, estimated to increase by 2034 at a moderate CAGR.
The total prevalent cases of FSHD in EU4 and the UK comprised 32,821 cases in 2021 and are projected to increase by 2034, at a moderate CAGR during the forecast period (2021–2034).
According to the DelveInsight’s analysis, in EU4 and the UK, the highest number of total prevalent cases of FSHD was observed in Germany, with 8,441 cases in 2021, estimated to decrease by 2034 at a moderate CAGR.
The total prevalent cases of FSHD in Japan comprised 12,469 cases in 2021 and are projected to decrease by 2034, at a moderate CAGR during the forecast period (2021–2034).

KOL- Views

To keep up with the current FSHD patient pool and forecasted trend, we take KOLs and SMEs ' opinions working in the FSHD domain through primary research to fill the data gaps and validate our secondary research. Their opinion helps to understand and validate the patient pool and forecasted trend.

Scope of the Report

The report covers the descriptive overview of FSHD, explaining their causes, symptoms, pathophysiology, and genetic basis.
The report provides insight into the 7MM historical and forecasted patient pool covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.
The report assesses the disease risk and burden and highlights the unmet needs of FSHD.
The report helps to recognize the growth opportunities in the 7MM concerning the patient population.
The report provides the segmentation of the disease epidemiology for 7MM by Total Prevalent Cases of FSHD, Total Diagnosed Cases of FSHD, Total Type-specific Cases of FSHD, Total Gender-specific Cases of FSHD, Total Age-specific Cases of FSHD, Total Severity-specific Cases of FSHD, and Total Treated Cases of FSHD in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2021 to 2034.

Report Highlights

The companies and academics are working to assess challenges and seek opportunities that could influence FSHD R&D. The therapies under development are focused on novel approaches to treat/improve the disease condition.
A better understanding of disease pathogenesis will also contribute to the development of novel therapeutics for FSHD.
Our in-depth analysis of the pipeline assets across different stages of development (Phase III and Phase II), different emerging trends, and comparative analysis of pipeline products with detailed clinical profiles, key cross-competition, launch date along with product development activities will support the clients in the decision-making process regarding their therapeutic portfolio by identifying the overall scenario of the research and development activities.

FSHD (FSHD) Report Key Strengths

11 Years Forecast
7MM Coverage
FSHD Epidemiology Segmentation

Key Questions

Epidemiology Insights:

What are the disease risk, burden, and regional/ethnic differences of FSHD?
What are the key factors driving the epidemiology trend for seven major markets covering the United States, EU4 (Germany, France, Italy, and Spain), and the United Kingdom?
What is the historical FSHD patient pool in seven major markets covering the United States, EU4 (Germany, France, Italy, and Spain), and the United Kingdom and Japan?
What would be the forecasted patient pool of FSHD in seven major markets covering the United States, EU4 (Germany, France, Italy, and Spain), and the United Kingdom?
Where will be the growth opportunities in the 7MM concerning the patient population about FSHD?
Out of all 7MM countries, which country would have the highest prevalent population of FSHD during the forecast period (2025-2034)?
At what CAGR the patient population is expected to grow by 7MM during the forecast period (2025-2034)?

Reasons to buy

The report will help in developing business strategies by understanding trends shaping and driving the FSHD Disease market
To understand the future market competition in the FSHD Disease market
Organize sales and marketing efforts by identifying the best opportunities for FSHD Disease in the US, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan
Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors
Organize sales and marketing efforts by identifying the best opportunities for the FSHD Disease market
To understand the future market competition in the FSHD Disease market

1. Key Insights

2. Report Introduction

3. Facioscapulohumeral Muscular Dystrophy (FSHD) Market Overview at a Glance

3.1. Drug-class Share (%) Distribution of FSHD in 2021

3.2. Drug-class Share (%) Distribution of FSHD in 2034

4. Executive Summary of Facioscapulohumeral Muscular Dystrophy (FSHD)

5. Key Events

5.1. Future Prospectus

6. Epidemiology and Market Methodology

7. Disease Background and Overview

7.1. Introduction

7.2. Clinical Manifestation

7.3. Signs and Symptoms

7.4. Genetic Causes and Pathogenesis

7.5. Risk Factors and Complications

7.6. Types of FSHD

8. Diagnosis

8.1. Differential diagnosis and prognosis

8.2. Diagnostic Algorithm

8.3. Diagnostic Guidelines

8.3.1. American Academy of Neurology and the Practice Guidelines for Evaluation and Diagnosis (2015)

9. Treatment

9.1. Treatment Guidelines

9.1.1. American Academy of Neurology and the Practice Guidelines for Management of FSHD (2015)

9.1.2. American Academy of Neurology Recommendations for Clinicians (2015)

10. Patient Journey

11. Epidemiology and Patient Population

11.1. Key Findings

11.2. Assumptions and Rationale: The 7MM

11.3. Epidemiology Scenario in the 7MM

11.3.1. Total prevalent cases of FSHD in the 7MM

11.3.2. Total diagnosed cases of FSHD in the 7MM

11.3.3. Type-specific cases of FSHD in the 7MM

11.3.4. Gender-specific cases of FSHD in the 7MM

11.3.5. Age-specific cases of FSHD in the 7MM

11.3.6. Severity-specific cases of FSHD in the 7MM

11.3.7. Total treated cases of FSHD in the 7MM

11.4. Epidemiology Scenario in the US

11.4.1. Total prevalent cases of FSHD in the US

11.4.2. Total diagnosed cases of FSHD in the US

11.4.3. Type-specific cases of FSHD in the US

11.4.4. Gender-specific cases of FSHD in the US

11.4.5. Age-specific cases of FSHD in the US

11.4.6. Severity-specific cases of FSHD in the US

11.4.7. Total treated cases of FSHD in the US

11.5. Epidemiology Scenario in EU4 and the UK

11.5.1. Total prevalent cases of FSHD in EU4 and the UK

11.5.2. Total diagnosed cases of FSHD in EU4 and the UK

11.5.3. Type-specific cases of FSHD in EU4 and the UK

11.5.4. Gender-specific cases of FSHD in EU4 and the UK

11.5.5. Age-specific cases of FSHD in EU4 and the UK

11.5.6. Severity-specific cases of FSHD in EU4 and the UK

11.5.7. Total treated cases of FSHD in EU4 and the UK

11.6. Epidemiology Scenario in Japan

11.6.1. Total prevalent cases of FSHD in Japan

11.6.2. Total diagnosed cases of FSHD in Japan

11.6.3. Type-specific cases of FSHD in Japan

11.6.4. Gender-specific cases of FSHD in Japan

11.6.5. Age-specific cases of FSHD in Japan

11.6.6. Severity-specific cases of FSHD in Japan

11.6.7. Total treated cases of FSHD in Japan

12. Unmet Needs

13. Appendix

13.1. Acronyms and Abbreviations

13.2. Bibliography

13.3. Report Methodology

14. DelveInsight Capabilities

15. Disclaimer

16. About DelveInsight

List of Tables:

List of Tables

Table 1: Summary of Facioscapulohumeral Muscular Dystrophy, Market, Epidemiology, and Key Events (2021-2034)

Table 2: FSHD Analysis and Diagnosis

Table 3: Treatment of Manifestations in Individuals With FSHD

Table 4: Recommended Surveillance for Individuals with FSHD

Table 5: FSHD Recommendations for Clinicians

Table 6: Total Prevalent Cases of FSHD in the 7MM (2021-2034)

Table 7: Total Diagnosed Cases of FSHD in the 7MM (2021-2034)

Table 8: Type-specific Cases of FSHD in the 7MM (2021-2034)

Table 9: Gender-specific Cases of FSHD in the 7MM (2021-2034)

Table 10: Age-specific Prevalent Cases of FSHD in the 7MM (2021-2034)

Table 11: Severity-specific Cases of FSHD in the 7MM (2021-2034)

Table 12: Total Treated Cases of FSHD in the 7MM (2021-2034)

Table 13: Total Prevalent Cases of FSHD in the US (2021-2034)

Table 14: Total Diagnosed Cases of FSHD in the US (2021-2034)

Table 15: Type-specific Cases of FSHD in the US (2021-2034)

Table 16: Gender-specific Cases of FSHD in the US (2021-2034)

Table 17: Age-specific Prevalent Cases of FSHD in the US (2021-2034)

Table 18: Severity-specific Cases of FSHD in the US (2021-2034)

Table 19: Total Treated Cases of FSHD in the US (2021-2034)

Table 20: Total Prevalent Cases of FSHD in EU4 and the UK (2021-2034)

Table 21: Total Diagnosed Cases of FSHD in EU4 and the UK (2021-2034)

Table 22: Type-specific Cases of FSHD in EU4 and the UK (2021-2034)

Table 23: Gender-specific Cases of FSHD in EU4 and the UK (2021-2034)

Table 24: Age-specific Prevalent Cases of FSHD in EU4 and the UK (2021-2034)

Table 25: Severity-specific Cases of FSHD in EU4 and the UK (2021-2034)

Table 26: Total Treated Cases of FSHD in EU4 and the UK (2021-2034)

Table 27: Total Prevalent Cases of FSHD in Japan (2021-2034)

Table 28: Total Diagnosed Cases of FSHD in Japan (2021-2034)

Table 29: Type-specific Cases of FSHD in Japan (2021-2034)

Table 30: Gender-specific Cases of FSHD in Japan (2021-2034)

Table 31: Age-specific Prevalent Cases of FSHD in Japan (2021-2034)

Table 32: Severity-specific Cases of FSHD in Japan (2021-2034)

Table 33: Total Treated Cases of FSHD in Japan (2021-2034)

List of Figures:

List of Figures

Figure 1: Epidemiology and Market Methodology

Figure 2: Signs and Symptoms of FSHD

Figure 3: Genetic and Epigenetic Abnormalities Underlying FSHD

Figure 4: Regulation of DUX4 Expression

Figure 5: FSHD1 Genetics

Figure 6: FSHD2 Genetics

Figure 7: Algorithm for the Diagnostic Workflow

Figure 8: Molecular Genetic Testing

Figure 9: Diagnostic Workflow for FSHD

Figure 10: Genetic Diagnosis of FSHD

Figure 11: Recommended Diagnostic Flowchart for FSHD

Figure 12: Total Prevalent Cases of FSHD in the 7MM (2021-2034)

Figure 13: Total Diagnosed Cases of FSHD in the 7MM (2021-2034)

Figure 14: Type-specific Cases of FSHD in the 7MM (2021-2034)

Figure 15: Gender-specific Cases of FSHD in the 7MM (2021-2034)

Figure 16: Age-specific Cases of FSHD in the 7MM (2021-2034)

Figure 17: Severity-specific Cases of FSHD in the 7MM (2021-2034)

Figure 18: Total Treated Cases of FSHD in the 7MM (2021-2034)

Figure 19: Total prevalent Cases of FSHD in the US (2021-2034)

Figure 20: Total Diagnosed Cases of FSHD in the US (2021-2034)

Figure 21: Type-specific Cases of FSHD in the US (2021-2034)

Figure 22: Gender-specific Cases of FSHD in the US (2021-2034)

Figure 23: Age-specific Cases of FSHD in the US (2021-2034)

Figure 24: Severity-specific Cases of FSHD in the US (2021-2034)

Figure 25: Total Treated Cases of FSHD in the US (2021-2034)

Figure 26: Total Prevalent Cases of FSHD in EU4 and the UK (2021-2034)

Figure 27: Total Diagnosed Cases of FSHD in EU4 and the UK (2021-2034)

Figure 28: Type-specific Cases of FSHD in EU4 and the UK (2021-2034)

Figure 29: Gender-specific Cases of FSHD in EU4 and the UK (2021-2034)

Figure 30: Age-specific Cases of FSHD in EU4 and the UK (2021-2034)

Figure 31: Severity-specific Cases of FSHD in EU4 and the UK (2021-2034)

Figure 32: Total Treated Cases of FSHD in EU4 and the UK (2021-2034)

Figure 33: Total Prevalent Cases of FSHD in Japan (2021-2034)

Figure 34: Total Diagnosed Cases of FSHD in Japan (2021-2034)

Figure 35: Type-specific Cases of FSHD in Japan (2021-2034)

Figure 36: Gender-specific Cases of FSHD in Japan (2021-2034)

Figure 37: Age-specific Cases of FSHD in Japan (2021-2034)

Figure 38: Severity-specific Cases of FSHD in Japan (2021-2034)

Figure 39: Total Treated Cases of FSHD in Japan (2021-2034)

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