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
Anne-Kathrin Lutz
exaly +4 more sources
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 Chatterjee +2 more
exaly +5 more sources
Early muscle hypotonia as a potential marker for autism spectrum disorder: a systematic review [PDF]
Frontiers in PsychiatryBackgroundThe 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.
exaly +6 more sources
Children, 2022 (1) Background: Decreased trunk stability is accompanied by delay in motor development in children with central hypotonia. We investigated the effect of Vojta therapy on trunk control in the sitting position in children with central hypotonia.
Yun-Hee Sung, Sun-Young Ha
exaly +3 more sources
DisabilitiesDevelopmental central hypotonia describes children with decreased muscle tone due to non-progressive central damage, and includes many genetic conditions (e.g., Down, Prader–Willi or Joubert syndromes etc.), cerebral palsy with hypotonia as the main ...
Roslyn Livingstone +2 more
exaly +3 more sources
Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness. [PDF]
BMC MedBackground Identifying the genetic basis of hypotonia and muscle weakness is critical for patient management and family counseling. However, diagnosis is often hindered by diverse genomic alterations, including repeat expansions, structural variants (SVs)
Abuijlan E +12 more
europepmc +2 more sources
Effect of Vestibular Training with Regular Rehabilitation on the Overall Development of Children with Global Developmental Delay and Hypotonia: a Randomized Controlled Trial [PDF]
Zhongguo quanke yixue, 2022 BackgroundThe increase in the number of children with global developmental delay and hypotonia is a growing concern. However, clinical rehabilitation for these patients is often carried out using monotherapy approaches, and the period for achieving ...
WANG Yan, WUYUN Tana, XIANG Dongliang, ZHAO Mingyue, YUAN Yiming
doaj +1 more source
Vojta Approach Affects Neck Stability and Static Balance in Sitting Position of Children With Hypotonia [PDF]
International Neurourology Journal, 2021 Purpose In this study, the effect of the Vojta approach on neck stability and static balance in children with hypotonia was studied. Methods Seventeen children with hypotonia were randomly divided into the Vojta approach group (n=9) and the general ...
Sun-Young Ha, Yun-Hee Sung
doaj +1 more source
X-linked recessive myotubular myopathy with mutations [PDF]
Korean Journal of Pediatrics, 2013 X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males.
Young-Mi Han +7 more
doaj +1 more source
O papel do pediatra na investigação de doenças neuromusculares da infancia [PDF]
Residência Pediátrica, 2023 OBJECTIVE: Help the pediatrician in the suspicion of neuromuscular diseases when the child has complaints or altered findings in neuropsychomotor development, presenting one review on the topic.
Alexandra Prufer de Queiroz Campos Araújo +4 more
doaj +1 more source