Results 1 to 10 of about 44,029 (119)

A case report of a novel de novo variant in PPP2CA causing a neurodevelopmental disorder and epilepsy [PDF]

Frontiers in Psychiatry
Neurodevelopmental disorders related to protein phosphatase 2 catalytic subunit alpha (PPP2CA) are currently recognized as Houge–Janssens syndrome 3 (OMIM: 618354), an autosomal dominant disorder characterized by developmental delay, intellectual ...
Lei Xu, Yanfeng Shen, Guixiang Zhang
doaj   +2 more sources

Transient neonatal myasthenia gravis: case report [PDF]

Romanian Medical Journal, 2022
Transient neonatal myasthenia gravis (TNMG) is a distinct type of myasthenia gravis (MG), a temporary autoimmune condition due to the mother’s antibodies crossing over the placenta and affecting the baby. Studies suggest that 10 to 15% of infants born to
Diana Iulia Vasilescu, Adriana Mihaela Dan, Vlad Dima, Monica Mihaela Cirstoiu   +3 more
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The Weak Link: Hypotonia in Infancy and Autism Early Identification

Frontiers in Neurology, 2021
Background: Presenting symptoms and age specific differential diagnosis of Autism Spectrum Disorder (ASD), determine the age of initial assessment and the age of a definite diagnosis.
Lidia V. Gabis, Lidia V. Gabis, Meirav Shaham, Odelia Leon Attia, Shahar Shefer, Ruth Rosenan, Tal Gabis, Michal Daloya   +7 more
doaj   +1 more source

Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review

Frontiers in Pediatrics, 2021
Background: D-Bifunctional protein deficiency (D-BPD) is an autosomal recessive disorder caused by peroxisomal β-oxidation defects. According to the different activities of 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units, D ...
Si Chen, Linrun Du, Yihui Lei, Yuanyuan Lin, Shangqin Chen, Yanli Liu   +5 more
doaj   +1 more source

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

Molecular Genetics & Genomic Medicine, 2021
Background PURA syndrome is rare autosomal dominant condition characterized by moderate to severe neurodevelopmental delay with absence of speech in nearly all patients and lack of independent ambulation in many.
Valeria Cinquina, Claudia Ciaccio, Marina Venturini, Riccardo Masson, Marco Ritelli, Marina Colombi   +5 more
doaj   +1 more source

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

Frontiers in Neurology, 2022
Background: Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called glycosylphosphatidylinositol-anchored proteins biosynthesis defects.
Justyna Paprocka, Michał Hutny, Jagoda Hofman, Agnieszka Tokarska, Magdalena Kłaniewska, Krzysztof Szczałuba, Agnieszka Stembalska, Aleksandra Jezela-Stanek, Robert Śmigiel   +8 more
doaj   +1 more source

Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency

Frontiers in Pediatrics, 2022
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, neurometabolic disorder resulting from biallelic mutations in the dopa decarboxylase (DDC) gene.
Mohamed O. E. Babiker, Manju A. Kurian, Manju A. Kurian, Jehan Suleiman, Jehan Suleiman   +4 more
doaj   +1 more source

The effect of selected exercise training on reduce symptom of hypotonia and changing body composition in men with Down syndrome [PDF]

رشد و یادگیری حرکتی ورزشی, 2015
The aim of this research was to determine the effect of selective exercise training on reducing the symptom of hypotonia and changing body composition in Down syndrome adults.
Ali Kashi, Manhood Sheikh, Asghar Dadkhah, Rasool Hemayattalab, Elahe Arabameri   +4 more
doaj   +1 more source

A Possible Case of Centronuclear Myopathy: A Case Report

Medicina, 2023
Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or
Narjara Castillo-Ferrán, Juan Mario Junco-Rodriguez, Zurina Lestayo-O’Farrill, María de los Angeles Robinson-Agramonte, Zoilo Camejo-León, Héctor Jesús Gómez-Suárez, Mercedes Salinas-Olivares, Evelyn Antiguas-Valdez, Elizabeth Falcón-Lamazares, Dario Siniscalco   +9 more
doaj   +1 more source

Research progress of floppy infant syndrome

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
The term "floppy infant" is used for describing children presenting with muscle hypotonia at or shortly after birth. The clinical manifestation of floppy infants is skeletal muscle hypotonia, which may be caused by a lot of reasons.
Chao-ping HU, Xi-hua LI
doaj   +1 more source