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Alex Smith, who lives in Kilmacud, has Down syndrome and as a result has hypotonia, or lowmuscletone.
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Issues such as lowmuscletone which can cause feeding problems and delay reaching gross motor milestones, such as walking; hearing difficulties; and speech delay.
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Highly compliant tissue supporting the pharynx and lowmuscletone enhance the possibility of upper airway occlusion in children with obstructive sleep apnea (OSA).
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Lowmuscletone and poor coordination often accompany the disability as well, Magge told Reuters Health.
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This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscularhypotonia.
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Features typical for distal 22q trisomy in our patients include muscularhypotonia and prenatal failure to thrive, seen in 2 and 1 cases, respectively.
Использование термина hypotonia на английском
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Conclusion: The prevalence of PWS syndrome is high among infants with hypotonia.
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Both patients presented with generalized hypotonia and respiratory difficulties since birth.
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About half of affected individuals have neurologic manifestations, including hypotonia and gait abnormalities.
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These differences correlate with the pattern of airway muscle hypotonia seen during sleep.
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A subset of affected individuals' has severe-profound ID, persistent hypotonia and respiratory abnormalities.
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Results: Sixty-five infants with hypotonia with a mean age of 8 months were enrolled.
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Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations.
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All patients presented with severe hypotonia, respiratory distress, and multiple cranial nerve palsies at birth.
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All patients presented with congenital-onset hypotonia and weakness, although there was variability in clinical severity.
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Other features were hypotonia and hyperlaxity of the joints.
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Affected males have profound global hypotonia and weakness, accompanied by respiratory difficulties that often require ventilation.
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Complications included acute severe anterior uveitis in one eye and bulbus hypotonia in another for several months.
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PWS should be considered by pediatricians and neonatologists in the differential diagnosis of all newborns with hypotonia.
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The study group was composed of infants with hypotonia for whom the karyotyping was found to be normal.
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We report the clinical phenotype of two siblings who presented in infancy with hypotonia and striking fatigable ptosis.
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The clinical diagnoses of the remaining 89 neonates with hypotonia were approached by targeted next-generation sequencing (NGS).