Saba BI, Núñez PAJR, Orozco GA, Bracho BE, Posada SLG, Peraza NLJ

Language: Spanish
References: 10
Page: 312-314
PDF size: 217.07 Kb.

ABSTRACT

Congenital myopathies are a diverse and heterogeneous group of diseases that typically manifest in the neonatal period. Central core myopathies are characterized by focally reduced oxidative activity in muscle biopsy. The most common mutation associated with this disease is the mutation in the RYR1 gene that codes for the ryanodine receptor 1 that is involved in calcium channels located in the membrane of the sarcoplasmic reticulum of striated muscle cells. This corresponds clinically to hypotonia, motor delay, scoliosis, contractures, respiratory failure and susceptibility to malignant hyperthermia. The severity of symptoms varies depending on the age of presentation and genetic expression.

REFERENCES

1. Ogasawara M, Nishino I. A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. Neuromuscul Disord. 2021; 31 (10): 968-977. doi: 10.1016/j.nmd.2021.08.015.

2. Huang K, Bi FF, Yang H. A systematic review and meta-analysis of the prevalence of congenital myopathy. Front Neurol. 2021; 12: 761636. doi: 10.3389/fneur.2021.761636.

3. Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC et al. Novel variants in individuals with RYR1-related congenital myopathies: genetic, laboratory, and clinical findings. Front Neurol. 2018; 9: 118. doi: 10.3389/fneur.2018.00118.

4. Gineste C, Laporte J. Therapeutic approaches in different congenital myopathies. Curr Opin Pharmacol. 2023; 68: 102328. doi: 10.1016/j.coph.2022.102328.

5. Jungbluth H, Sewry CA, Muntoni F. Core myopathies. Semin Pediatr Neurol. 2011; 18 (4): 239-249. doi: 10.1016/j.spen.2011.10.005.

6. Todd JJ, Lawal TA, Witherspoon JW, Chrismer IC, Razaqyar MS, Punjabi M et al. Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies. Neurology. 2020; 94 (13): e1434-e1444. doi: 10.1212/WNL.0000000000008872.

7. Witherspoon JW, Meilleur KG. Review of RyR1 pathway and associated pathomechanisms. Acta Neuropathol Commun. 2016; 4 (1): 121. doi: 10.1186/s40478-016-0392-6.

8. Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E. Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics. 2004; 35 (5): 262-266. doi: 10.1055/s-2004-821173.

9. Rendu J, Brocard J, Denarier E, Monnier N, Piétri-Rouxel F, Beley C et al. Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy. Hum Gene Ther. 2013; 24 (7): 702-713. doi: 10.1089/hum.2013.052.

10. Hedermann G, Vissing CR, Heje K, Preisler N, Witting N, Vissing J. Aerobic training in patients with congenital myopathy. PLoS One. 2016; 11 (1): e0146036. doi: 10.1371/journal.pone.0146036.