Case: 1 #Muscle Biopsy
Multicore Myopathy
- Inherited neuromuscular disorder defined by a) clinical and pathological features of a congenital myopathy and b) multiple areas with reduced oxidative activity (“multicores”).
- Presentation: prenatal (reduced fetal movements and polyhydramnios), infancy (hypotonia, axial weakness, feeding difficulty and failure to thrive); childhood, adolescent and adulthood (myopathic facies, progressive muscle weakness, spinal rigidity, scoliosis and respiratory impairment are the hallmark features and external ophthalmoplegia in a subset of cases).
- Malignant hyperthermia in few cases with recessive mutations in RYR1 gene.
- Multicore Disease is a histologic diagnosis established on muscle biopsy.
- Management is mainly supportive based on a multidisciplinary approach.
- Genetic counselling to all families and individuals in whom a diagnosis of multicore disease and testing for the genes especially RYR1 and SEPN1 genes are vital components of the management.
- Since, only little is known about this disease, genome sequencing may unravel novel mutations in future.
References
- Gaspar BL, Vasishta RK, Radotra BD. Myopathology: A Practical Clinico-Pathological Approach to Skeletal Muscle Biopsies. Springer Nature: Singapore, 2019.
- Nucci A, Queiroz LS, Zambelli HJ, et al. Multi-minicore disease revisited. Arq Neuropsiquiatr. 2004;62:935-9.
- Jungbluth H. Multi-minicore Disease. Orphanet J Rare Dis. 2007;2:31
