Abstract Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on male patient from Neonatal Intensive Care Unit, who presented of myopathy. After eliminating many other possible causes, he was eventually proven to bear c.197C&g...

The prevalence of congenital myopathies in the United States has not been examined. To address this, we determined the point prevalence of congenital myopathies in a well-defined pediatric population from Southeastern Michigan. The overall point prevalence was 1:26,000. Mutations in RYR1 were the most common cause of congenital myopathies at 1:90,000. Our data broadly agrees with estimates from...

RBCK1 deficiency is a rare congenital autoinflammatory disease that causes inflammatory disruption on the molecular level. This has three major clinical manifestations: increased sensitivity to bacterial infections, autoinflammation syndrome, and accumulation of amylopectin in skeletal muscle. The amylopectinosis myopathy cardiomyopathy. pathogenesis poorly investigated may include unnoticed re...

Background: Myopathies are a group of neuro muscular diseases that cause muscle weakness, cramps, and spasms due to primary defect the fiber. We undertook this study hereditary disorders identify clinical patterns laboratory findings in these conditions correlation between them, which will help recognizing them early for adequate management with rehabilitation measures prognostication. Aim: To ...

BACKGROUND Sturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders. Sturge-Weber syndrome can coexist with other disorders in a few patients; however, muscular abnormalities have not been reported in patients with Sturge-Weber syndrome. CASE PRESENTATION A Chinese girl presented with extensive po...

Nemaline myopathy, the most common non-dystrophic congenital myopathy, is caused by mutations in six genes, all of which encode thin-filament proteins, including NEB (nebulin) and TPM3 (α tropomyosin). In contrast to the mechanisms underlying weakness in NEB-based myopathy, which are related to loss of thin-filament functions normally exerted by nebulin, the pathogenesis of muscle weakness in p...

Background: Nemaline myopathy (NM) is one of the most common structural congenital myopathies, with a significant clinical and genetic heterogeneity. Nowadays, more than 15 genes are related to NM, including TPM3, NEB, ACTA1, TPM2, TNNT1, KBTBD13, CFL2 (COFILIN2), KLHL40, KLHL41, LMOD3, MYO18B, MYPN, RYR3, TTN3, ADSSL1, Filamin C MYH2. Most these encode or regulatory proteins associated thin fi...

X-linked myotubular myopathy (McKusick no. 31040) is a congenital myopathy in which affected male subjects typically present with severe hypotonia and respiratory distress at birth. Surviving patients have prolonged ventilator dependence and grossly delayed motor milestones but usually have intact intelligence.1-3 However, the long-term prognosis as reported in the literature is generally poor,...