Paeds Vivas · neurology-neurodisability-and-neuromuscular
Congenital myopathies and muscular dystrophies: Viva
Branching clinical structured oral on paediatric congenital myopathies and congenital muscular dystrophies covering the creatine kinase as the first diagnostic fork, the merosin-deficient LAMA2 form with white matter changes, the dystroglycanopathies of Walker-Warburg with cobblestone lissencephaly, the collagen VI spectrum of Ullrich and Bethlem, the LMNA form with cardiac conduction disease, the central core RYR1 disease with malignant hyperthermia risk, the nemaline and centronuclear myopathies, the next-generation sequencing muscle panel, and the multidisciplinary management of respiratory, nutritional, orthopaedic, and cardiac care.
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Branch 1: The creatine kinase as the first fork
A strong candidate recognises that the alert but weak baby with absent reflexes has a neuromuscular cause of the floppy infant, and that the creatine kinase is the single highest-yield first test. The kinase of 6800 units per litre is markedly raised, which forks the diagnosis toward a congenital muscular dystrophy and away from a congenital myopathy or a mimic such as spinal muscular atrophy, in which the kinase is normal or only mildly raised. The markedly raised kinase raises the merosin-deficient and the dystroglycanopathy forms above the collagen VI and the LMNA forms, which carry a normal or mildly raised kinase. [1]
References6ShowHide
- [1]Bönnemann CG, Wang CH, Quijano-Roy S, et al Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord, 2014.PMID 24581957
- [2]Wang CH, Bonnemann CG, Rutkowski A, et al Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol, 2010.PMID 21078917
- [9]Mercuri E, Topaloglu H, Brockington M, et al Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol, 2006.PMID 16476814
- [10]Magri F, Brusa R, Bello L, et al Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis. Acta Myol, 2020.PMID 32904964
- [4]Nance JR, Dowling JJ, Gibbs EM, et al Congenital myopathies: an update. Curr Neurol Neurosci Rep, 2012.PMID 22392505
- [11]Amburgey K, Bailey A, Hwang JH, et al Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis, 2013.PMID 23919265