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Congenital megaconial muscular dystrophy is an ultra-rare autosomal recessive neuromuscular disorder caused by variants in the CHKB gene affecting phospholipid biosynthesis. Loss of CHKB activity disrupts mitochondrial structure and muscle-cell membrane composition, leading to progressive muscle weakness and developmental delay....

About 96% of individuals with CHKB-related disease experience intellectual disability and delays in speech and cognitive development despite typically normal brain MRI findings. Metabolic and mitochondrial dysfunction significantly impact neurodevelopment pathways, contributing to learning challenges, delayed milestones, and functional impairment....

Around 30% of individuals with CHKB muscular dystrophy develop cardiomyopathy, as loss of CHKB disrupts cardiac muscle integrity and affects ventricular function. Some individuals progress to heart failure in adolescence or early adulthood, making targeted cardiac monitoring and supportive care essential....

Infants and toddlers with CHKB-related disease often present with hypotonia, poor head control, and delayed milestones such as sitting, standing, and walking. Earliest pathology often appears in the posterior muscle compartments, with progressive involvement of anterior and medial compartments. Advanced stages show significant fatty infiltration and weakness....

A defining feature of CHKB disease is the presence of enlarged mitochondria accumulating at the periphery of muscle fibers — the classic megaconial phenotype. This structural abnormality reflects impaired lipid metabolism and mitochondrial dysfunction, contributing directly to the degenerative nature of the condition....

Respiratory decline is the leading cause of mortality in MDCMC, typically occurring in childhood or early adulthood. As skeletal and diaphragmatic muscle weakens, individuals experience reduced lung function, increased infection susceptibility, and progressive ventilatory insufficiency....