Results 11 to 20 of about 338,913 (237)

Floppy Infant Syndrome: new approach to the study of neonatal hypotonia through the analysis of a rare case of X-Linked Myotubular Myopathy

Journal of Pediatric and Neonatal Individualized Medicine, 2014
The Floppy Infant Syndrome includes a variety of signs and symptoms: decrease in muscle tone (hypotonia), in muscle power (weakness) and ligamentous laxity and increased range of joint mobility.
Massimiliano De Vivo, Silvana Rojo, Roberto Rosso, Giovanni Chello, Paolo Giliberti   +4 more
doaj   +2 more sources

Deletion of PREPl causes growth impairment and hypotonia in mice. [PDF]

PLoS ONE, 2014
Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in ...
Anna Mari Lone, Mathias Leidl, Amanda K McFedries, James W Horner, John Creemers, Alan Saghatelian   +5 more
doaj   +2 more sources

Pelizaeus-Merzbacher Disease and Hypotonia

Pediatric Neurology Briefs, 1995
Two brothers with Pelizaeus-Merzbacher disease presenting with neonatal hypotonia and hyporeflexia are reported from the Tuft’s University School of Medicine, and Massachusetts General Hospital, Boston, and the EKS Center for Mental Retardation, Waltham,
J Gordon Millichap
doaj   +2 more sources

Prader-Willi Syndrome: an under-recognized cause of hypotonia?

Journal of Pediatric and Neonatal Individualized Medicine, 2017
The “floppy infant” is a well-recognized entity characterized by general­ized hypotonia presenting at birth or in early life. Hypotonia represents a diagnostic challenge because it may be the presentation sign of numerous diseases, as central or ...
Marlene Rodrigues, Miguel Costa, Joana Teixeira, Carla Sá, Liliana Pinheiro, Eduarda Abreu, Albina Silva, Nicole Silva, Matos Marques, Miguel Rocha, Almerinda Pereira   +10 more
doaj   +2 more sources

A couple of the first cousins born with hypotonia and maternal polyhydramnios

Clinical Case Reports
Key Clinical Message Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf   +2 more
doaj   +2 more sources

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. [PDF]

Neurology
Background and ObjectivesHypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB.   +17 more
europepmc   +2 more sources

Neonatal-onset developmental and epileptic encephalopathy: High genetic yield and long-term outcomes in a multicenter southern European cohort. [PDF]

Epilepsia Open
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Sala-Coromina J, Marcé-Grau A, D'Onofrio G, Riva A, Pons R, Kollia E E, Raspall-Chaure M, López-Laso E, López-Pisón J, Verdura E, Schlüter A, Casellas-Vidal D, Camós-Carreras M, Iacomino M, Spalice A, Parisi P, de la Ossa-Vela AM, Vicente-Rasoamalala M, Pujol A, Salpietro V, Striano P, Macaya A.   +21 more
europepmc   +2 more sources

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

Journal of Behçet Uz Children's Hospital, 2019
The diagnosis of the hypotonia at the neonatal period is difficult. In the neonatal period, the differential must include acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism. Congenital disorders
Sinem Akbay, Esra Ozer, Ozkan Ilhan, Berat Kanar, Seyma Memur, Gulden Diniz, Dilek Cavusoglu, Nihal Olgaç Dündar   +7 more
doaj   +1 more source

Peroxisomal acyl⁃CoA oxidase deficiency: one case report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To report a case of peroxisomal acyl⁃CoA oxidase (ACOX1) deficiency, which was caused by an unreported mutation of ACOX1 gene, and review its clinical characteristics.
YOU Hua⁃jing , TIAN Yang , LI Xun⁃hua, LI Xiao⁃jing , PEI Zhong   +4 more
doaj   +1 more source

Severe neonatal hypotonia due to <i>SLC30A5</i> variant affecting function of ZnT5 zinc transporter. [PDF]

JIMD Rep
The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the ...
Dolgin V, Chabosseau P, Bistritzer J, Noyman I, Staretz-Chacham O, Wormser O, Hadar N, Eskin-Schwartz M, Kanengisser-Pines B, Narkis G, Abramsky R, Shany E, Rutter GA, Marks K, Birk OS.   +14 more
europepmc   +2 more sources