Centronuclear Myopathy (CNM) Epidemiology

Key Highlights

• CNM is a rare genetic muscle disorder characterized by muscle weakness and centrally placed nuclei in muscle cells. It often appears at birth or in early childhood. CNM includes several subtypes, such as XLMTM, caused by different gene mutations like MTM1, DNM2, and BIN1.
• Secondary analysis indicates that X-linked Myotubular Myopathy (XLMTM) is the most prevalent form of CNM in the US, with over 2,500 diagnosed cases. This highlights a significant burden of XLMTM among congenital myopathies and underscores the need for targeted diagnostic and therapeutic strategies tailored to this subgroup.
• Diagnosis of CNM faces several unmet needs, including limited awareness among clinicians, delayed recognition of subtle early symptoms, restricted access to specialized diagnostic tools like muscle biopsy and genetic testing, and lack of standardized protocols. Early, accurate diagnosis is crucial to guide timely management and improve long-term outcomes.

DelveInsight’s “Centronuclear Myopathy (CNM) – Epidemiology Forecast – 2034” report delivers an in-depth understanding of CNM, historical and forecasted epidemiology trends in the United States, EU4 (Germany, France, Italy, Spain), the United Kingdom, and Japan. 

Geography Covered

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

Study Period: 2020–2034

Disease Understanding

Centronuclear Myopathy (CNM) Overview

CNM are part of the broader category of congenital myopathies, genetic muscle disorders typically present at birth or shortly thereafter. In medical literature, "centronuclear myopathy" refers to the autosomal types, while "myotubular myopathy" denotes the X-linked variant (XLMTM). Differentiating between these forms is crucial, as the X-linked type generally exhibits more severe symptoms. CNM presents with a spectrum of symptoms, ranging from mild to severe muscle weakness and reduced muscle tone (hypotonia). In more serious cases, affected individuals may experience feeding challenges and significant respiratory distress due to impaired swallowing and breathing muscles. Eye muscle involvement is a common feature across all forms. Severity can vary widely, with some individuals facing life-threatening complications during infancy or early childhood. Autosomal forms of CNM are linked to mutations in the DNM2, BIN1, and RYR1 genes, while the XLMTM results from mutations in the MTM1 gene. 

Centronuclear Myopathy (CNM) Diagnosis

Diagnosis of CNM begins with recognizing key symptoms such as hypotonia and muscle weakness in newborns or limb weakness in older individuals. Clinical evaluation is supported by detailed patient and family history and specialized tests. Muscle biopsy can reveal hallmark features like centrally located nuclei in muscle fibers. Imaging techniques, especially muscle MRI, help guide targeted genetic testing, particularly for DNM2 and RYR1 mutations. Definitive diagnosis is achieved through molecular genetic testing, which identifies specific gene mutations responsible for CNM. These tests are typically conducted at specialized diagnostic laboratories to confirm the form and subtype of CNM. 

Further details related to diagnosis are provided in the report…

Centronuclear Myopathy (CNM) Epidemiology

The CNM epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by Total Diagnosed Prevalent Cases of Congenital Myopathy, Type-specific Diagnosed Prevalent Cases of Congenital Myopathy, Diagnosed Prevalent Cases of CNM, Mutation-specific Diagnosed Prevalent Cases of CNM in the 7MM covering, the United States, EU4 countries (Germany, France, Italy, and Spain), United Kingdom, and Japan from 2020 to 2034. 

• Secondary analysis indicates that the prevalence of congenital myopathy in the United States is approximately 3.8 cases per 100,000 individuals. 
• According to the secondary analysis, it indicates that the prevalence of congenital myopathy in Spain is approximately 1.25 cases per 100,000 individuals. 
• Based secondary analysis the reported prevalence of nemaline myopathy across studies falls within the range of 0.14 to 0.26 cases per 100,000 individuals and CNM has the lowest prevalence with around 0.08 per 100,000 cases.
• As per secondary analysis, myopathy caused by mutations in the RYR1 gene has a prevalence of approximately 1 in 90,000 individuals in US.
• In Japan, the estimated prevalence of XLMTM, which is caused by mutations in the MTM1 gene, is more than 600 individuals.

KOL Views

DelveInsight’s analysts collaborated with over 50 key opinion leaders (KOLs), conducting in-depth interviews with more than 15 experts across the 7MM. To keep pace with dynamic market trends, the team gathered first-hand insights from KOLs and subject matter experts (SMEs) through primary research, addressing data limitations and reinforcing findings from secondary research. These professionals offered valuable input on the CNM landscape, highlighting patient behavior trends, and challenges in access to care. Contributors included experts from renowned institutions such as the Boston Children's Hospital, Boston, US, University of Duisburg-Essen, Essen, Germany, Myotubular Trust, London, United Kingdom, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan, among others.

As per the KOLs from the US, CNM myopathy faces key unmet needs in epidemiology and diagnosis due to limited prevalence data, especially for non-X-linked subtypes, and lack of standardized global registries. Diagnostic delays are common, driven by symptom overlap with other myopathies and limited access to genetic testing. Broader awareness and improved access to sequencing are essential for timely and accurate diagnosis.

Based on expert perspectives obtained from KOLs in the UK, Supportive management for CNM typically involves assisted ventilation and feeding, along with consistent physiotherapy aimed at maintaining muscle strength, function, and mobility. Additionally, case-level evidence suggests potential benefits from off-label use of certain medications, including pyridostigmine, to help manage specific symptoms and improve patient outcomes.

According to insights shared by KOLs from Japan, XLMTM remains the most severe CNM subtype, with early onset hypotonia, respiratory distress, and high mortality - especially in male infants. Female carriers of XLMTM are often overlooked due to assumptions of asymptomatic status, despite emerging evidence of clinical manifestations.

Scope of the Report

• The report covers a segment of executive summary, descriptive overview of CNM, explaining its causes, signs and symptoms, and currently available diagnostic algorithms and guidelines.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, disease progression, and diagnosis guidelines.
• The report provides an edge for understanding trends, expert insights/KOL views, and patient journeys in the 7MM.
• A detailed review of current challenges in establishing the diagnosis.

Centronuclear Myopathy (CNM) Report Insights

• Patient Population
• Country-wise Epidemiology Distribution
• CNM Pipeline Analysis 
• Total Diagnosed Prevalent Cases of Congenital Myopathy
• Type-specific Diagnosed Prevalent Cases of Congenital Myopathy
• Diagnosed Prevalent Cases of CNM
• Mutation-specific Diagnosed Prevalent Cases of CNM

Centronuclear Myopathy (CNM) Report Key Strengths

• 10 years Forecast
• The 7MM Coverage 
• Key Cross Competition 
• Attribute Analysis

Key Questions

Epidemiology Insights

• What are the disease risk, burden, and unmet needs of CNM?
• What is the historical CNM patient population in the United States, EU4 (Germany, France, Italy, Spain) and the UK, and Japan?
• What would be the forecasted patient population of CNM at the 7MM level?
• What will be the growth opportunities across the 7MM with respect to the patient population pertaining to CNM?
• Out of the above-mentioned countries, which country would have the highest prevalence population of CNM during the forecast period (2025–2034)?
• At what Compound annual growth rate (CAGR) the population is expected to grow across the 7MM during the forecast period (2025–2034)?

Reasons to Buy

• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast period.
• To analyze epidemiological trends of CNM across different regions and assess how these patterns may evolve in the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of approved products in the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.
• To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis options.

Frequently Asked Questions

1.What is the forecast period covered in the report?

• The CNM epidemiology report for the 7MM covers the forecast period from 2025 to 2034, providing a projection of epidemiology dynamics and trends during this timeframe.

2. Out of all EU4 countries and the UK, which country had the highest population of CNM cases?

• The highest cases of CNM were found in Germany among EU4 and the UK.

3. How is epidemiological data collected and analyzed for forecasting purposes?

• Epidemiological data is collected through surveys, clinical studies, health records, and other sources. It is then analyzed to calculate disease rates, identify trends, and project future disease burdens using mathematical models.