TL;DR
HSP should be suspected in cases with slowly progressive spasticity in lower limbs, even without a family history, which may mimic cerebral palsy, and five novel variants and some recurrent variants, suggesting potential founder effects, were noted.
The management of children with DS is challenging because of multiple comorbidities, and early intervention and timely diagnosis improves the outcome.
A highly prevalent AAAS variant suggestive of a possible founder effect was identified in the Paisa population and expanded the phenotypic spectrum and underscore the importance of early genetic testing and systematic multidisciplinary surveillance.
Background/Objectives: Hereditary ataxias are a genetically and phenotypically heterogeneous group of neurodegenerative disorders that often pose diagnostic challenges. This study characterized the spectrum of hereditary ataxias encountered at our institution and identified phenotypic patterns that may facilitate early...
Introduction: Cohen syndrome (CS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the VPS13B gene. Although the neurodevelopmental and dysmorphic manifestations of the disease are well characterized, its immunological features remain insufficiently defined. This study aimed...
The phenotypic spectrum of CMS type 11 is characterized by a wide phenotypic spectrum – from a mild limb-girdle phenotype with extraocular involvement and childhood onset to severe forms with neonatal manifestation and respiratory failure, and early orthopedic complications.
We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.
