Shear modulus of lower limb muscles in school-aged children with mild hypotonia
Journal of BiomechanicsThe objective of this study is to compare shear modulus of lower limb muscles between children with hypotonia versus typical development (TD) or developmental disorders associated with altered tone. Nineteen children with mild hypotonia (mean age 9.4 ± 2.3y, 13 male) completed assessment of resting shear modulus of rectus femoris, biceps femoris (BF ...
Miran Goo +2 more
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B-003 Assessing the role of KMT2D in muscle regeneration to understand hypotonia symptoms associated with Kabuki Syndrome [PDF]
Clinical ChemistryAbstract Background Kabuki syndrome (KS) is a rare multi-systemic genetic condition affecting 1 in 32,000 individuals globally. It is characterized by symptoms such as dysmorphic facial features, developmental delays, intellectual disabilities, and hypotonia.
Sarah Hachmer, F. Jeffrey Dilworth
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Abstract Background 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, and methylation defects across multiple loci.
Eman Abuijlan +12 more
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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
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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
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Light and Electron Microscopic Studies of "Myogranules" in Child With Hypotonia and Muscle Weakness
JAMA, 1963 P.E. Conen +2 more
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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
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]
, 2020 Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C +28 more
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