نتایج جستجو برای: central hypotonia
تعداد نتایج: 471786 فیلتر نتایج به سال:
Zellweger syndrome (ZS) disorders are autosomal recessive peroxisomal biogenesis diseases mainly characterized by neonatal onset severe neurodevelopmental delay, profound hypotonia, craniofacial dysmorphism, hepatic dysfunction, polyneuropathy and loss of hearing and vision. There is a wide genetic heterogeneity that while most ZS disorders are rapidly progressive and incurable, and patients ra...
Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common distal 10q trisomy syndrome. The present study describes the case of a boy with phenotypic abnormalities (severe central hypotonia, mild ataxia, moderate developmental delay...
Keywords Disease names and synonyms Definition/Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Management Unresolved questions References Abstract Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder with onset in the first or second year of life. Frequency is unknown. It is characterized by a pr...
BACKGROUND Clinical assessment of hypotonia is challenging due to the subjective nature of the initial clinical evaluation. This poses dilemmas for practitioners in gaining accuracy, given that the presentation of hypotonia can be either a non-threatening or malevolent sign. The research question posed was how clinical assessment can be improved, given the current contentions expressed in the s...
Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome are the most frequent. Here, we describe the first germinal pathogenic mutation in the NDUFA13/GRIM19 gene encoding a CI subunit, in two sisters with early onset hypotonia, dyskinesia and sensorial deficiencies, including a severe optic ...
We studied seven patients (fetuses/infants) from six unrelated families affected by central core disease (CCD) and presenting with a fetal akinesia syndrome. Two fetuses died before birth (at 31 and 32 weeks) and five infants presented severe symptoms at birth (multiple arthrogryposis, congenital dislocation of the hips, severe hypotonia and hypotrophy, skeletal and feet deformities, kyphoscoli...
Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and central nervous system involvement. In individuals e...
OBJECTIVE Magnesium historically has been used for treatment and/or prevention of eclampsia or preterm labor. More recently, antepartum magnesium sulfate has been suggested for prevention of cerebral palsy in preterm infants. Although adverse effects and toxicity of magnesium in pregnant women are well known, the fetal-neonatal effects of magnesium are less clear. The objective of this study wa...
BACKGROUND The Ehlers-Danlos syndrome type VI (EDSVI) is an autosomal recessive connective tissue disease which is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity and fragility, joint hypermobility and (sub-)luxations, microcornea, rupture of arteries and the eye globe, and osteopenia. The enzyme collagen lysyl hydroxylase (LH1) is deficient in these...
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