OBSOLETE: Congenital myopathy with central nuclei

Congenital myopathy with central nuclei, also known as centronuclear myopathy, is an inherited neuromuscular disorder characterized by muscle weakness and the presence of abnormally centrally located nuclei in muscle fibers on biopsy. This Orphanet entry (172979) is marked as OBSOLETE, meaning it has been retired and its content has been reclassified or merged into other more specific disease entries within the Orphanet classification system. Centronuclear myopathies are now typically categorized under more specific subtypes, including X-linked myotubular myopathy (caused by MTM1 mutations), autosomal dominant centronuclear myopathy (often caused by DNM2 mutations), and autosomal recessive centronuclear myopathy (often caused by BIN1 or RYR1 mutations). These conditions primarily affect skeletal muscles, leading to generalized muscle weakness, hypotonia, and in severe forms, respiratory insufficiency. Facial weakness, ophthalmoplegia (weakness of eye muscles), and ptosis (drooping eyelids) are commonly observed. Severity ranges from severe neonatal presentations with life-threatening respiratory failure to milder forms with later onset. There is currently no cure for centronuclear myopathies; management is supportive and may include respiratory support, physical therapy, and orthopedic interventions. Patients seeking current information should refer to the specific subtypes now classified separately in Orphanet.

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