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[SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report].
Rinsho Shinkeigaku
January 2025
Department of Neurology, The University of Tokyo Hospital.
The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the patient was provisionally diagnosed with "non-Fukuyama congenital muscular dystrophy" via muscle biopsy.
View Article and Find Full Text PDFIdentifying Genetic Predisposition to Dozer Lamb Syndrome: A Semi-Lethal Muscle Weakness Disease in Sheep.
Genes (Basel)
January 2025
Department of Animal, Veterinary and Food Science, University of Idaho, Moscow, ID 83844, USA.
Background: Lamb health is crucial for producers; however, the percentage of lambs that die before weaning is still 15-20%. One factor that can contribute to lamb deaths is congenital diseases. A novel semi-lethal disease has been identified in newborn Polypay lambs and termed dozer lamb syndrome.
View Article and Find Full Text PDFCongenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Ann Neurol
January 2025
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.
Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.
Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Cerebellum
January 2025
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited condition described worldwide and characterized by a wide spectrum of heterogeneity in terms of genotype and phenotype. How sacsin loss leads to neurodegeneration is still unclear, and current knowledge indicates that sacsin is involved in multiple functional mechanisms. We hence hypothesized the existence of epigenetic factors, in particular alterations in methylation patterns, that could contribute to ARSACS pathogenesis and explain the pleiotropic effects of SACS further than pathogenic mutations.
View Article and Find Full Text PDFNovel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.
Cureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
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