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PUBLISHER: DelveInsight | PRODUCT CODE: 2082670
PUBLISHER: DelveInsight | PRODUCT CODE: 2082670
Facioscapulohumeral Muscular Dystrophy Epidemiology Forecast - 2036
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Facioscapulohumeral Muscular Dystrophy (FSHD) Insights and Trends
- Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic neuromuscular disorder characterized by progressive muscle weakness. The total prevalent cases of FSHD in the 7MM were ~79,700 in 2025, with the United States accounting for the highest number of cases.
- FSHD is the second most common adult-onset muscular dystrophy worldwide. It presents with weakness in the facial, shoulder-girdle, and upper-arm muscles and progressively extends to the abdominal, lower-limb, and pelvic-girdle muscles. This characteristic pattern of muscle involvement is central to its diagnosis and clinical management.
- About 80% of people with the FSHD genotype will develop symptoms, while 20% who test positive are asymptomatic (do not have symptoms). Symptoms may appear later in life or be so mild that they go unnoticed.
- In FSHD1, a child of an affected parent has a 50% chance of inheriting the condition, while in FSHD2, the risk varies based on both parents' genetics but is generally between 25% and 50%.
- Early-onset FSHD is generally characterized by facial muscle weakness appearing before age 5 and/or weakness in the shoulder and upper arm muscles before age 10. This early form represents roughly 5-10% of all FSHD cases.
- Genetic testing is a valuable tool for confirming an FSHD diagnosis, as it identifies the specific genetic changes associated with the condition and helps differentiate it from other disorders with similar symptoms. Individuals and their families are encouraged to consult healthcare professionals to determine whether genetic testing is an appropriate option for their situation.
DelveInsight's 'Facioscapulohumeral Muscular Dystrophy (FSHD) - Epidemiology Forecast - 2036' report delivers an in-depth understanding of the FSHD, historical and forecasted epidemiology in the United States, EU4 (Germany, Spain, Italy, and France) and the United Kingdom, and Japan.
Facioscapulohumeral Muscular Dystrophy (FSHD) Understanding and Diagnosis Algorithm
Facioscapulohumeral Muscular Dystrophy (FSHD) Overview and Diagnosis
Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic muscle disorder characterized by progressive weakening of the facial, shoulder, and upper arm muscles. It is one of the most common forms of muscular dystrophy, with symptoms often beginning in adolescence or early adulthood, though early-onset cases can occur in childhood. FSHD is caused by genetic changes that lead to inappropriate activation of the DUX4 gene, resulting in muscle damage over time. The disease progression is highly variable, ranging from mild muscle weakness to significant physical disability. Diagnosis is confirmed through clinical evaluation and genetic testing. While there is currently no cure, supportive therapies such as physical therapy and assistive devices help manage symptoms and improve quality of life.
Facioscapulohumeral Muscular Dystrophy (FSHD) Diagnosis
Diagnosis of FSHD is based on a combination of clinical evaluation, medical and family history, and characteristic patterns of muscle weakness. Doctors may use blood tests (CK and aldolase levels), neurological examinations, and sometimes a muscle biopsy to rule out other causes of muscle weakness. However, these tests alone cannot confirm FSHD with certainty. A definitive diagnosis is made through genetic testing, which identifies FSHD Type 1 or Type 2.
Facioscapulohumeral Muscular Dystrophy (FSHD) Epidemiology
Key Findings from Facioscapulohumeral Muscular Dystrophy (FSHD) Epidemiological Analysis and Forecast
- In 2025, among the 7MM, the US accounted for approximately 45% of total cases in the 7MM, which are expected to increase by 2036.
- In 2025, among the age-specific cases of FSHD in the 7MM, the highest cases were in patients aged 50 years and above, while the lowest were in those below 18.
- In 2025, there were nearly 16,000 cases of FSHD1, with FSHD1 accounting for approximately 95% of cases in the US, significantly higher than FSHD2.
- According to secondary analysis, FSHD is diagnosed through a combination of clinical evaluation and genetic testing and is classified as either Type 1 or Type 2, with approximately 95% of patients diagnosed with Type 1.
- As per secondary sources, the prevalence of FSHD is estimated at approximately 1 in 8,000 to 1 in 15,000 in the US and about 1 in 20,000 in both Italy and the UK.
- FSHD is one of the most common myopathies, involving over 870,000 people worldwide and over 20 FSHD national registries.
- In the US, the highest proportion of FSHD cases is observed in the most severe category (severity score 7 to 10) at ~40%, followed by 4 to 6 severity. This is followed by 1 to 3 severity, while the lowest proportion is seen in score 0 cases.
- In the US, FSHD cases are distributed almost equally between males and females, with a slight predominance in males compared to females.
Scope of the Report:
- The report covers a segment of an executive summary, a descriptive overview of Facioscapulohumeral Muscular Dystrophy (FSHD), explaining its causes, signs and symptoms, and pathogenesis.
- Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of the diagnosis rate, and disease progression.
Report Insights
Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Population Forecast
Report Key Strengths
- Epidemiology-based (Epi-based) Bottom-up Forecasting
- 11-year Forecast
- Patient Burden Trends (by geography)
FAQs:
- What are the disease risks, burdens, and unmet needs of Facioscapulohumeral Muscular Dystrophy (FSHD)? What will be the growth opportunities across the 7MM concerning the patient population with Facioscapulohumeral Muscular Dystrophy (FSHD)?
- What is the historical and forecasted Facioscapulohumeral Muscular Dystrophy (FSHD) patient pool in the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?
Reasons to Buy:
- Insights on patient burden/disease prevalence/incidence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
- To understand key opinion leaders' perspectives on the diagnostic challenges to overcome barriers in the future.
- Detailed insights into various factors hampering disease diagnosis and other existing diagnostic challenges.
Product Code: DIEI1245
Table of Contents
1. Key Insights
2. Report Introduction
3. Executive Summary
4. Facioscapulohumeral Muscular Dystrophy (FSHD) Epidemiology Overview at a Glance
- 4.1. Patient Share (%) Distribution by Country in 2025 in the 7MM
- 4.2. Patient Share (%) Distribution by Country in 2036 in the 7MM
5. Epidemiology Forecast Methodology of Facioscapulohumeral Muscular Dystrophy (FSHD)
6. Disease Background and Overview of Facioscapulohumeral Muscular Dystrophy (FSHD)
- 6.1. Introduction
- 6.2. Sign and Symptoms
- 6.3. Risk Factors
- 6.4. Pathogenesis
- 6.5. Classification of FSHD
- 6.6. Biomarkers
- 6.7. Diagnosis
- 6.7.1. Differential Diagnosis
- 6.7.2. Diagnosis Guideline
7. Epidemiology and Patient Population of Facioscapulohumeral Muscular Dystrophy (FSHD) in the 7MM
- 7.1. Key Findings
- 7.2. Assumptions and Rationale
- 7.3. Total Prevalent Cases of FSHD in the 7MM
- 7.4. The United States
- 7.4.1. Total Prevalent Cases of FSHD in the United States
- 7.4.2. Total Diagnosed Prevalent Cases of FSHD in the United States
- 7.4.3. Type-specific Diagnosed Prevalent Cases of FSHD in the United States
- 7.4.4. Gender-specific Diagnosed Prevalent Cases of FSHD in the United States
- 7.4.5. Age-specific Diagnosed Prevalent Cases of FSHD in the United States
- 7.4.6. Severity-specific Diagnosed Prevalent Cases of FSHD in the United States
- 7.4.7. Total Treated Cases of FSHD in the United States
- 7.5. EU4 and the UK
- 7.5.1. Total Prevalent Cases of FSHD in EU4 and the UK
- 7.5.2. Total Diagnosed Prevalent Cases of FSHD in EU4 and the UK
- 7.5.3. Type-specific Diagnosed Prevalent Cases of FSHD in EU4 and the UK
- 7.5.4. Gender-specific Diagnosed Prevalent Cases of FSHD in EU4 and the UK
- 7.5.5. Age-specific Diagnosed Prevalent Cases of FSHD in EU4 and the UK
- 7.5.6. Severity-specific Diagnosed Prevalent Cases of FSHD in EU4 and the UK
- 7.5.7. Total Treated Cases of FSHD in EU4 and the UK
- 7.6. Japan
- 7.6.1. Total Prevalent Cases of FSHD in Japan
- 7.6.2. Total Diagnosed Prevalent Cases of FSHD in Japan
- 7.6.3. Type-specific Diagnosed Prevalent Cases of FSHD in Japan
- 7.6.4. Gender-specific Diagnosed Prevalent Cases of FSHD in Japan
- 7.6.5. Age-specific Diagnosed Prevalent Cases of FSHD in Japan
- 7.6.6. Severity-specific Diagnosed Prevalent Cases of FSHD in Japan
- 7.6.7. Total Treated Cases of FSHD in Japan
8. Appendix
- 8.1. Bibliography
- 8.2. Report Methodology
9. DelveInsight Capabilities
10. Disclaimer
11. About DelveInsight
Product Code: DIEI1245
List of Tables
- Table 1: Summary of Facioscapulohumeral Muscular Dystrophy, Market, Epidemiology, and Key Events (2022-2036)
- 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 (2022-2036)
- Table 7: Total Diagnosed Cases of FSHD in the 7MM (2022-2036)
- Table 8: Type-specific Cases of FSHD in the 7MM (2022-2036)
- Table 9: Gender-specific Cases of FSHD in the 7MM (2022-2036)
- Table 10: Age-specific Prevalent Cases of FSHD in the 7MM (2022-2036)
- Table 11: Severity-specific Cases of FSHD in the 7MM (2022-2036)
- Table 12: Total Treated Cases of FSHD in the 7MM (2022-2036)
- Table 13: Total Prevalent Cases of FSHD in the US (2022-2036)
- Table 14: Total Diagnosed Cases of FSHD in the US (2022-2036)
- Table 15: Type-specific Cases of FSHD in the US (2022-2036)
- Table 16: Gender-specific Cases of FSHD in the US (2022-2036)
- Table 17: Age-specific Prevalent Cases of FSHD in the US (2022-2036)
- Table 18: Severity-specific Cases of FSHD in the US (2022-2036)
- Table 19: Total Treated Cases of FSHD in the US (2022-2036)
- Table 20: Total Prevalent Cases of FSHD in EU4 and the UK (2022-2036)
- Table 21: Total Diagnosed Cases of FSHD in EU4 and the UK (2022-2036)
- Table 22: Type-specific Cases of FSHD in EU4 and the UK (2022-2036)
- Table 23: Gender-specific Cases of FSHD in EU4 and the UK (2022-2036)
- Table 24: Age-specific Prevalent Cases of FSHD in EU4 and the UK (2022-2036)
- Table 25: Severity-specific Cases of FSHD in EU4 and the UK (2022-2036)
- Table 26: Total Treated Cases of FSHD in EU4 and the UK (2022-2036)
- Table 27: Total Prevalent Cases of FSHD in Japan (2022-2036)
- Table 28: Total Diagnosed Cases of FSHD in Japan (2022-2036)
- Table 29: Type-specific Cases of FSHD in Japan (2022-2036)
- Table 30: Gender-specific Cases of FSHD in Japan (2022-2036)
- Table 31: Age-specific Prevalent Cases of FSHD in Japan (2022-2036)
- Table 32: Severity-specific Cases of FSHD in Japan (2022-2036)
- Table 33: Total Treated Cases of FSHD in Japan (2022-2036)
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 (2022-2036)
- Figure 13: Total Diagnosed Cases of FSHD in the 7MM (2022-2036)
- Figure 14: Type-specific Cases of FSHD in the 7MM (2022-2036)
- Figure 15: Gender-specific Cases of FSHD in the 7MM (2022-2036)
- Figure 16: Age-specific Cases of FSHD in the 7MM (2022-2036)
- Figure 17: Severity-specific Cases of FSHD in the 7MM (2022-2036)
- Figure 18: Total Treated Cases of FSHD in the 7MM (2022-2036)
- Figure 19: Total prevalent Cases of FSHD in the US (2022-2036)
- Figure 20: Total Diagnosed Cases of FSHD in the US (2022-2036)
- Figure 21: Type-specific Cases of FSHD in the US (2022-2036)
- Figure 22: Gender-specific Cases of FSHD in the US (2022-2036)
- Figure 23: Age-specific Cases of FSHD in the US (2022-2036)
- Figure 24: Severity-specific Cases of FSHD in the US (2022-2036)
- Figure 25: Total Treated Cases of FSHD in the US (2022-2036)
- Figure 26: Total Prevalent Cases of FSHD in EU4 and the UK (2022-2036)
- Figure 27: Total Diagnosed Cases of FSHD in EU4 and the UK (2022-2036)
- Figure 28: Type-specific Cases of FSHD in EU4 and the UK (2022-2036)
- Figure 29: Gender-specific Cases of FSHD in EU4 and the UK (2022-2036)
- Figure 30: Age-specific Cases of FSHD in EU4 and the UK (2022-2036)
- Figure 31: Severity-specific Cases of FSHD in EU4 and the UK (2022-2036)
- Figure 32: Total Treated Cases of FSHD in EU4 and the UK (2022-2036)
- Figure 33: Total Prevalent Cases of FSHD in Japan (2022-2036)
- Figure 34: Total Diagnosed Cases of FSHD in Japan (2022-2036)
- Figure 35: Type-specific Cases of FSHD in Japan (2022-2036)
- Figure 36: Gender-specific Cases of FSHD in Japan (2022-2036)
- Figure 37: Age-specific Cases of FSHD in Japan (2022-2036)
- Figure 38: Severity-specific Cases of FSHD in Japan (2022-2036)
- Figure 39: Total Treated Cases of FSHD in Japan (2022-2036)
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