Centronuclear myopathy (CNM): management
Evidence-based neurology checklist on centronuclear myopathy (cnm): management: Muscle biopsy: features Large centrally located nuclei Necklace fibers Dystrophic change Radial cytoplasmic strands around the central nuclei Other investigations Physical therapy Treatment of drooling Management of…
Muscle biopsy: features
- Large centrally located nuclei
- Necklace fibers
- Dystrophic change
- Radial cytoplasmic strands around the central nuclei
Other investigations
Physical therapy
Treatment of drooling
Management of swallowing and feeding
Bone health management
Management of contractures
Scoliosis management
Mobility aids
Vaccinations
Respiratory management
Other management
References
- Cassandrini D, Trovato R, Rubegni A, et al; Italian Network on Congenital Myopathies. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr 2017; 43:101.
- Wang CH, Dowling JJ, North K, et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol 2012; 27:363-382.
- Abath Neto O, Silva MR, Martins Cde A, et al. A study of a cohort of X-linked myotubular myopathy at the clinical, histologic, and genetic levels. Pediatr Neurol 2016; 58:107-112.
- Bevilacqua JA, Bitoun M, Biancalana V, et al. "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol 2009; 117:283-291.
- Gurgel-Giannetti J, Zanoteli E, de Castro Concentino EL, et al. Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy. Neuromuscul Disord 2012; 22:541-545.
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