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Centronuclear myopathy (CNM) is an inherited neuromuscular condition defined by clinical features of a congenital myopathy alongside the histopathologic finding of centrally positioned nuclei within muscle fibers on biopsy. Onset of the condition has been documented in the congenital period. Several recognized genetic subtypes have been described within this umbrella category, including autosomal dominant, autosomal recessive, and X-linked forms, as well as a form with fiber-type disproportion and a form with internal nuclei and atypical cores. No certified causative-gene claim, inheritance pattern, or population prevalence estimate is available in this packet for centronuclear myopathy as a whole.
Certified phenotype data for centronuclear myopathy as a disease group is not available in this packet. The condition's defining features per the packet definition include the combination of congenital myopathy clinical characteristics and the characteristic muscle biopsy finding of centrally positioned nuclei within muscle fibers. Because this packet represents an umbrella category encompassing multiple genetically distinct subtypes, the clinical presentation is expected to vary by specific subtype, ranging from severe neonatal forms with respiratory involvement to milder forms with later-onset features.
This packet does not contain certified causative-gene data or a certified inheritance pattern for centronuclear myopathy as a broader category. Multiple genetically distinct subtypes have been recognized within this umbrella, each potentially involving distinct genetic mechanisms, as reflected by the five subtypes documented in this packet: X-linked myotubular myopathy, autosomal dominant centronuclear myopathy, autosomal recessive centronuclear myopathy, a form with fiber-type disproportion, and a form with internal nuclei and atypical cores. The genetic basis and inheritance characteristics for each individual subtype are not certified within the umbrella packet data.
Certified diagnostic criteria applicable across all centronuclear myopathy subtypes are not detailed in this packet. The packet definition identifies the combination of congenital myopathy clinical features and the presence of internally located nuclei within muscle fibers on muscle biopsy as the defining diagnostic features of this condition group. Specific diagnostic workup criteria are expected to differ across the individual genetic subtypes.
No certified foundational therapies or FDA-approved treatments are documented in this packet for centronuclear myopathy as an umbrella disease category. Research activity is ongoing, with several certified active trial records present across the condition group, including investigational therapeutic strategies targeting specific subtypes.
10 trials found
Prognosis data for centronuclear myopathy as a whole is not certified in this packet. Clinical outcomes are expected to vary considerably across the genetically distinct subtypes, with the most severe forms associated with significant respiratory and motor involvement beginning in the neonatal period.
Several certified active trial records are present for centronuclear myopathy, covering multiple subtypes and research areas including gene therapy approaches and natural history studies. Active clinical trials for this condition are listed on ClinicalTrials.gov.
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC
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European rare disease database
Genetic and Rare Diseases Info Center
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.