Results 1 to 10 of about 31,520 (324)

Down syndrome related muscle hypotonia: association with COL6A3 functional SNP rs2270669 [PDF]

Frontiers in Genetics, 2013
Down syndrome (DS), the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. Muscle hypotonia (MH) and congenital heart diseases (CHD) are also frequently observed.
Arpita eDey, Krishnendu eBhowmik, Arpita eChatterjee, Pit Baran eChakrabarty, Swagata eSinha, Kanchan eMukhopadhyay   +5 more
doaj   +6 more sources

Muscle Hypotonia in Lowe’s Syndrome

Pediatric Neurology Briefs, 1991
As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were ...
J Gordon Millichap
doaj   +4 more sources

Down syndrome: orofacial pain, masticatory muscle hypotonia, and sleep disorders [PDF]

Sleep, 2022
Abstract The aim of the present study was to investigate orofacial pain in individuals with Down syndrome (DS) and determine possible associations with masticatory muscle hypotonia (MMH), maximum mouth opening (MMO), and sleep disorders.
Bruna Dicieri Pereira, Mônica Fernandes Gomes, Lílian Chrystiane Giannasi, Sérgio Roberto Nacif, Ezequiel Fernandes Oliveira, Miguel Angel Castillo Salgado, José Benedito Oliveira Amorim, Wagner de Oliveira, Adriano Bressane, Sigmar de Mello Rode   +9 more
exaly   +6 more sources

Muscarinic Inhibition of Hypoglossal Motoneurons: Possible Implications for Upper Airway Muscle Hypotonia during REM Sleep. [PDF]

J Neurosci, 2019
Proper function of pharyngeal dilator muscles, including the genioglossus muscle of the tongue, is required to maintain upper airway patency. During sleep, the activity of these muscles is suppressed, and as a result individuals with obstructive sleep apnea experience repeated episodes of upper airway closure when they are asleep, in particular during ...
Zhu L, Chamberlin NL, Arrigoni E.
europepmc   +5 more sources

Early muscle hypotonia as a potential marker for autism spectrum disorder: a systematic review. [PDF]

Front Psychiatry
BackgroundThe diagnosis of ASD has increased globally owing to the expansion of diagnostic criteria, increased awareness, and improvement in symptom identification. However, the diagnosis of ASD in young or neurodivergent people remains challenging and requires the investigation of new early indications.ObjectivesIn this review, we examined the ...
Zhang T, Wang J, Cao Z, Ma Y, Lv Z.
europepmc   +6 more sources

Objective evaluation of muscle strength in infants with hypotonia and muscle weakness

Research in Developmental Disabilities, 2013
The clinical evaluation of an infant with motor delay, muscle weakness, and/or hypotonia would improve considerably if muscle strength could be measured objectively and normal reference values were available. The authors developed a method to measure muscle strength in infants and tested 81 typically developing infants, 6-36 months of age, and 17 ...
Linda Reus, Leo A. van Vlimmeren, J. Bart Staal, Anjo J.W.M. Janssen, Barto J. Otten, Ben Pelzer, Maria W. G. Nijhuis–van der Sanden   +6 more
exaly   +7 more sources

Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue [PDF]

Frontiers in Cell and Developmental Biology, 2023
Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Berra Yildiz, Berra Yildiz, Lisa Schiedt, Lisa Schiedt, Medhanie Mulaw, Jürgen Bockmann, Sarah Jesse, Anne-Kathrin Lutz, Tobias M. Boeckers, Tobias M. Boeckers   +9 more
doaj   +5 more sources

The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome [PDF]

Frontiers in Neurology, 2021
The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial. This study aims to assess the role and efficacy of muscle histopathology in the diagnostic algorithm of
Marco Veneruso, Chiara Fiorillo, Paolo Broda, Serena Baratto, Monica Traverso, Alice Donati, Salvatore Savasta, Raffaele Falsaperla, Maria Margherita Mancardi, Marina Pedemonte, Chiara Panicucci, Gianluca Piatelli, Mattia Pacetti, Andrea Moscatelli, Luca A. Ramenghi, Lino Nobili, Carlo Minetti, Claudio Bruno   +17 more
openalex   +6 more sources

Biallelic loss‐of‐function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability [PDF]

Clinical Genetics, 2017
DOCK3 encodes the dedicator of cytokinesis 3 protein, a member of the DOCK180 family of proteins that are characterized by guanine‐nucleotide exchange factor activity. DOCK3 is expressed exclusively in the central nervous system and plays an important role in axonal outgrowth and cytoskeleton reorganization.
Katherine L. Helbig, Cameron Mroske, Denish Moorthy, Samin A. Sajan, Milen Velinov   +4 more
openalex   +3 more sources

Direct optogenetic activation of upper airway muscles in an acute model of upper airway hypotonia mimicking sleep onset

SLEEP, 2023
Abstract Study Objectives Obstructive sleep apnea (OSA), where the upper airway collapses repeatedly during sleep due to inadequate dilator muscle tone, is challenging to treat as current therapies are poorly tolerated or have variable and unpredictable efficacy. We propose a novel, optogenetics-based
Fiona L Knapman, E Myfanwy Cohen, T Kulaga, Nigel H. Lovell, Leszek Lisowski, Simon McMullan, Peter G.R. Burke, Lynne E. Bilston   +7 more
openalex   +4 more sources