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This article discusses a case of congenital myasthenia syndrome (CMS) caused by a novel DPAGT1 gene mutation. CMS is a group of myasthenia syndromes that result from impaired transmission at the neuromuscular junction due to defective proteins. DPAGT1 is a gene responsible for glycosylation, and mutations in this gene can lead to CMS. The patient in this case was a 10-year-old girl who presented with proximal weakness and limited craniobulbar involvement. Next-generation sequencing revealed a compound heterozygous pathogenic mutation in DPAGT1, confirming the diagnosis of CMS. The patient showed significant improvement with treatment using pyridostigmine. This article provides valuable insights into the genetic basis and clinical presentation of CMS caused by DPAGT1 gene mutations. [Extracted from the article]

This article discusses a rare case of delayed myelination with dysthyroidism, specifically Allan-Herndon-Dudley syndrome (AHDS). AHDS is an X-linked disorder that presents with developmental delay, feeding difficulties, seizures, and other symptoms due to a defect in the MCT8 transporter, which leads to central hypothyroidism and peripheral hyperthyroidism. The article describes the case of a 5½-year-old boy with intellectual disability, stiffness of limbs, and abnormal twisting movements. The boy had a mutation in the SLC16A2 gene, which is associated with AHDS. The article also discusses the differential diagnoses and treatment options for this condition. [Extracted from the article]