Results 11 to 20 of about 52,839 (293)
This chapter outlines a practical approach to the diagnosis and management of common human genetic conditions in patients who present with hypotonia. Hypotonia is an abnormal decrease in the muscle’s resistance to a rapid velocity stretch, and hypertonia
Gregory M. Enns
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Congenital Hypotonia: Is There an Algorithm?
Journal of Child Neurology, 2004 This study was performed with the aim of determining the diagnostic profile of newborns with hypotonia and of analyzing the usefulness of different procedures in the diagnostic process. One hundred thirty-eight hypotonic newborns were identified through the search of hospital records in a 10-year period: 121 (88%) had central hypotonia and 13 (9%) had ...
Darja, Paro-Panjan, David, Neubauer
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Pediatric Care Online, 2020 Key Points Hypotonia is distinct from weakness, although the two are often confused. It is not itself a diagnosis, and its underlying condition must be identified. It can result from pathological changes anywhere along the neural pathway from the brain to the muscle. Children with hypotonia often benefit from multidisciplinary care.
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Neonatal hypotonia: A case series [PDF]
, 2022 Floppy baby is a non-specific and potentially serious multisystem disorder in the neonatal period. Diagnosing hypotonia in a newborn is very difficult as many disorders could manifest with diminished tone.
Polanki, Raghava +9 more
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. [PDF]
, 2022 Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require invasive testing and multiple procedures.
Costain, Gregory +16 more
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, 2019 Abstract This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of the multiple disorders causing congenital hypotonia. The differential diagnosis of various types of hypotonic syndromes includes chromosome anomalies, metabolic myopathies, peroxisomal disorders, brain malformations, congenital lower
Robin D. Clark, Cynthia J. Curry
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Muscular Dystrophy-Dystroglycanopathy and Epilepsy
Pediatric Neurology Briefs, 2013 Investigators from the University of Catania, and other centers in Europe have identified a novel genetic glycosylation disorder, DPM2-CDG (part of the DPM synthase complex) in 3 infants with severe hypotonia, progressive muscle weakness and wasting ...
J Gordon Millichap
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Presentation of Neonatal Sinovenous Thrombosis
Pediatric Neurology Briefs, 2008 Signs, risk factors, comorbidities, and radiographic findings in 59 neonates presenting with sinovenous thrombosis are reported from Indiana University School of Medicine, Indianapolis, IN.
J Gordon Millichap
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Pediatric Neurology Briefs, 1993 An X-linked recessive disease with a fatal course in early childhood is reported in a five-generation Dutch family from the Netherlands.
J Gordon Millichap
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A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature
Journal of Biochemical and Clinical Genetics, 2019 Background: Bainbridge-Ropers syndrome (BRPS) is characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, profound speech delays, and intellectual disability and dysmorphic features.
Faroug Ababneh +2 more
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