Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding centronuclear myopathy is limited due to its extreme rarity, which affects fewer than 1 in 100,000 individuals. This rarity results in fewer systematic clinical studies and a lack of comprehensive phenotype documentation. Additionally, the genetic basis for CNM has only been recently identified, leading to ongoing efforts to better characterize its clinical features.
To navigate your journey with centronuclear myopathy, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with congenital myopathies. Resources such as the Joshua Frase Foundation and Myotubular Trust can provide valuable support and information. Additionally, exploring participation in patient registries or natural history studies may offer insights into your condition and contribute to ongoing research efforts. Genetic counseling is also recommended, especially given the known gene associations.
Currently, there are 9 active clinical trials related to centronuclear myopathy. These trials aim to explore various treatment options and improve understanding of the condition. For more information on these trials, you can visit ClinicalTrials.gov and search for 'centronuclear myopathy'. This ongoing research provides hope for better management strategies and potential therapies in the future.
Actionable guidance for navigating care for centronuclear myopathy
To navigate your journey with centronuclear myopathy, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with congenital myopathies. Resources such as the Joshua Frase Foundation and Myotubular Trust can provide valuable support and information. Additionally, exploring participation in patient registries or natural history studies may offer insights into your condition and contribute to ongoing research efforts. Genetic counseling is also recommended, especially given the known gene associations.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the centronuclear myopathy community
Helpful links for rare disease information and support
The documentation surrounding centronuclear myopathy is limited due to its extreme rarity, which affects fewer than 1 in 100,000 individuals. This rarity results in fewer systematic clinical studies and a lack of comprehensive phenotype documentation. Additionally, the genetic basis for CNM has only been recently identified, leading to ongoing efforts to better characterize its clinical features.
To navigate your journey with centronuclear myopathy, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with congenital myopathies. Resources such as the Joshua Frase Foundation and Myotubular Trust can provide valuable support and information. Additionally, exploring participation in patient registries or natural history studies may offer insights into your condition and contribute to ongoing research efforts. Genetic counseling is also recommended, especially given the known gene associations.
Currently, there are 9 active clinical trials related to centronuclear myopathy. These trials aim to explore various treatment options and improve understanding of the condition. For more information on these trials, you can visit ClinicalTrials.gov and search for 'centronuclear myopathy'. This ongoing research provides hope for better management strategies and potential therapies in the future.
Actionable guidance for navigating care for centronuclear myopathy
To navigate your journey with centronuclear myopathy, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with congenital myopathies. Resources such as the Joshua Frase Foundation and Myotubular Trust can provide valuable support and information. Additionally, exploring participation in patient registries or natural history studies may offer insights into your condition and contribute to ongoing research efforts. Genetic counseling is also recommended, especially given the known gene associations.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the centronuclear myopathy community
Helpful links for rare disease information and support
The documentation surrounding centronuclear myopathy is limited due to its extreme rarity, which affects fewer than 1 in 100,000 individuals. This rarity results in fewer systematic clinical studies and a lack of comprehensive phenotype documentation. Additionally, the genetic basis for CNM has only been recently identified, leading to ongoing efforts to better characterize its clinical features.
To navigate your journey with centronuclear myopathy, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with congenital myopathies. Resources such as the Joshua Frase Foundation and Myotubular Trust can provide valuable support and information. Additionally, exploring participation in patient registries or natural history studies may offer insights into your condition and contribute to ongoing research efforts. Genetic counseling is also recommended, especially given the known gene associations.
Currently, there are 9 active clinical trials related to centronuclear myopathy. These trials aim to explore various treatment options and improve understanding of the condition. For more information on these trials, you can visit ClinicalTrials.gov and search for 'centronuclear myopathy'. This ongoing research provides hope for better management strategies and potential therapies in the future.
Actionable guidance for navigating care for centronuclear myopathy
To navigate your journey with centronuclear myopathy, consider seeking a neurologist with expertise in neuromuscular disorders, particularly those familiar with congenital myopathies. Resources such as the Joshua Frase Foundation and Myotubular Trust can provide valuable support and information. Additionally, exploring participation in patient registries or natural history studies may offer insights into your condition and contribute to ongoing research efforts. Genetic counseling is also recommended, especially given the known gene associations.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the centronuclear myopathy community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
2 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
AI-curated news mentioning centronuclear myopathy
Updated Feb 6, 2026
The EU-funded DREAMS project, now including University College London, aims to accelerate the discovery of treatments for rare neuromuscular disorders. By leveraging AI-based drug discovery and advanced screening methods, the project targets five specific diseases, including Duchenne muscular dystrophy and centronuclear myopathy.