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.
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