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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1984 2
1985 1
1987 1
1991 1
1992 1
1993 1
1998 1
1999 1
2001 1
2002 2
2003 2
2004 3
2005 2
2006 1
2007 3
2008 2
2009 1
2010 1
2011 1
2012 1
2013 5
2014 2
2015 2
2016 1
2017 1
2018 2
2019 4
2020 2
2021 5
2022 3
2023 2
2024 0

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52 results

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Page 1
Peroxisomal disorders with infantile seizures.
Liang JS, Lu JF. Liang JS, et al. Brain Dev. 2011 Oct;33(9):777-82. doi: 10.1016/j.braindev.2011.02.004. Epub 2011 Mar 11. Brain Dev. 2011. PMID: 21397417 Review.
Infants with PDs are usually presented with developmental delay, visual and hearing impairment. Generalized hypotonia is present in severe cases. Epileptic seizures are also a common characteristic of patients with certain PDs. ...
Infants with PDs are usually presented with developmental delay, visual and hearing impairment. Generalized hypotonia is prese …
Variability in Cerebral Palsy Diagnosis.
Aravamuthan BR, Fehlings D, Shetty S, Fahey M, Gilbert L, Tilton A, Kruer MC. Aravamuthan BR, et al. Pediatrics. 2021 Feb;147(2):e2020010066. doi: 10.1542/peds.2020-010066. Epub 2021 Jan 5. Pediatrics. 2021. PMID: 33402528 Free PMC article.
CONCLUSIONS: There is practice variability in whether a child with a nonprogressive motor disability due to a genetic etiology or generalized hypotonia will be diagnosed with CP. This variability occurred despite anchoring questions with the 2007 consensus definitio …
CONCLUSIONS: There is practice variability in whether a child with a nonprogressive motor disability due to a genetic etiology or general …
Sleep-disordered breathing in Down syndrome.
Lal C, White DR, Joseph JE, van Bakergem K, LaRosa A. Lal C, et al. Chest. 2015 Feb;147(2):570-579. doi: 10.1378/chest.14-0266. Chest. 2015. PMID: 25644910 Review.
The higher prevalence and severity of OSA in patients with DS may be related to unique upper airway anatomic features as well as increased risk for obesity, hypothyroidism, gastroesophageal reflux disease, and generalized hypotonia. Although many of the manifestatio …
The higher prevalence and severity of OSA in patients with DS may be related to unique upper airway anatomic features as well as increased r …
Clinical characteristics of children affected by autism spectrum disorder with and without generalized hypotonia.
Lopez-Espejo MA, Nuñez AC, Moscoso OC, Escobar RG. Lopez-Espejo MA, et al. Eur J Pediatr. 2021 Oct;180(10):3243-3246. doi: 10.1007/s00431-021-04038-7. Epub 2021 Apr 14. Eur J Pediatr. 2021. PMID: 33855616
In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic features and clinical characteristics in toddlers (2 to 5 years) with autism spectrum disorder (ASD). ...
In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic feature …
X-linked centronuclear myopathy.
Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS. Fan HC, et al. Am J Perinatol. 2003 May;20(4):173-9. doi: 10.1055/s-2003-40603. Am J Perinatol. 2003. PMID: 12874727
This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth. ...
This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, an …
Characterization of congenital myopathies at a Korean neuromuscular center.
Park YE, Shin JH, Kim HS, Lee CH, Kim DS. Park YE, et al. Muscle Nerve. 2018 Aug;58(2):235-244. doi: 10.1002/mus.26147. Epub 2018 May 20. Muscle Nerve. 2018. PMID: 29669168
INTRODUCTION: Congenital myopathies are muscle diseases characterized by specific histopathologic features, generalized hypotonia from birth, and perinatal complications, although some cases develop during childhood or, rarely, in adulthood. ...
INTRODUCTION: Congenital myopathies are muscle diseases characterized by specific histopathologic features, generalized hypotonia …
Central core disease.
Gulati S, Salhotra A, Sharma MC, Sarkar C, Kalra V. Gulati S, et al. Indian J Pediatr. 2004 Nov;71(11):1021-4. doi: 10.1007/BF02828119. Indian J Pediatr. 2004. PMID: 15572824
Central core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and presence of central cores on muscle biopsy. ...
Central core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and presence of central …
Clinical and polysomnographic course of childhood narcolepsy with cataplexy.
Pizza F, Franceschini C, Peltola H, Vandi S, Finotti E, Ingravallo F, Nobili L, Bruni O, Lin L, Edwards MJ, Partinen M, Dauvilliers Y, Mignot E, Bhatia KP, Plazzi G. Pizza F, et al. Brain. 2013 Dec;136(Pt 12):3787-95. doi: 10.1093/brain/awt277. Epub 2013 Oct 18. Brain. 2013. PMID: 24142146 Free PMC article.
At onset, childhood narcolepsy with cataplexy is characterized by an abrupt increase of total sleep over the 24 h, generalized hypotonia and motor overactivity. With time, the picture of cataplexy evolves into classic presentation (i.e., brief muscle weakness episod …
At onset, childhood narcolepsy with cataplexy is characterized by an abrupt increase of total sleep over the 24 h, generalized hyp …
Severe lethal spinal muscular atrophy variant with arthrogryposis.
Kizilates SU, Talim B, Sel K, Köse G, Caglar M. Kizilates SU, et al. Pediatr Neurol. 2005 Mar;32(3):201-4. doi: 10.1016/j.pediatrneurol.2004.10.003. Pediatr Neurol. 2005. PMID: 15730903 Review.
The patient required ventilatory support because of respiratory failure after the birth and died on day 13. His physical examination revealed profound generalized hypotonia, absence of deep tendon and neonatal reflexes, dysmorphic facies, arthrogryposis, clinodactyl …
The patient required ventilatory support because of respiratory failure after the birth and died on day 13. His physical examination reveale …
Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.
Gül Mert G, Özcan N, Hergüner Ö, Altunbaşak Ş, Incecik F, Bişgin A, Ceylaner S. Gül Mert G, et al. Acta Neurol Belg. 2021 Apr;121(2):529-534. doi: 10.1007/s13760-019-01246-9. Epub 2019 Nov 26. Acta Neurol Belg. 2021. PMID: 31773638
The parents of all the evaluated patients were consanguineous. Ptosis, ophthalmoplegia, generalized hypotonia, bulbar weakness, and respiratory crisis were the main findings at the time of presentation. ...
The parents of all the evaluated patients were consanguineous. Ptosis, ophthalmoplegia, generalized hypotonia, bulbar weakness …
52 results