muscle hypotonia

Summary

Summary: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.

Top Publications

  1. Hanson D, Murray P, Coulson T, Sud A, Omokanye A, Stratta E, et al. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol. 2012;49:267-75 pubmed publisher
    ..Dysregulation of the GH-IGF-IGF binding protein axis is a feature of 3-M syndrome...
  2. Hanson D, Murray P, O Sullivan J, Urquhart J, Daly S, Bhaskar S, et al. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet. 2011;89:148-53 pubmed publisher
    ..We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth...
  3. Akawi N, Ali B, Hamamy H, Al Hadidy A, Al Gazali L. Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?. Am J Med Genet A. 2011;155A:1236-45 pubmed publisher
    ..As a result of these findings, we question the identity of the autosomal recessive SRS and suggest that all apparently recessive SRS families should be tested for mutations in CUL7 and OBSL1...
  4. Galli M, Cimolin V, Vismara L, Grugni G, Camerota F, Celletti C, et al. The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients. Res Dev Disabil. 2011;32:1117-21 pubmed publisher
    ..The results demonstrated that both PWS and EDS are characterized by a severe postural instability. Muscle hypotonia and weakness may account for reduced balance capacity...
  5. Rump P, Niessen R, Verbruggen K, Brouwer O, de Raad M, Hordijk R. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Clin Genet. 2011;79:183-8 pubmed publisher
    ..G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz-Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases...
  6. Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, et al. Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. J Med Genet. 2008;45:314-8 pubmed publisher
    ..The deletions differ in size and the number of genes involved. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome, two additional genes (C2orf34 and PPM1B) are lost...
  7. Smets K. X-linked myotubular myopathy and chylothorax. Neuromuscul Disord. 2008;18:183-4 pubmed
    ..As chylothorax could not be attributed to any evident condition in this child, perhaps it may be added to the clinical spectrum of X-linked myotubular myopathy...
  8. Szklarczyk R, Wanschers B, Nijtmans L, Rodenburg R, Zschocke J, Dikow N, et al. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Hum Mol Genet. 2013;22:656-67 pubmed publisher
    ..In this report, we describe a homozygous missense mutation in FAM36A from a patient who displays ataxia and muscle hypotonia. The FAM36A gene is a remote, putative ortholog of the fungal complex IV assembly factor COX20...
  9. Yis U, Dirik E, Chambaz C, Steinmann B, Giunta C. Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord. 2008;18:210-4 pubmed
    ..We advocate the analysis of urinary pyridinolines in all infants with severe hypotonia which is highly specific and sensitive, quick and inexpensive...

More Information

Publications62

  1. Leis A, Stokic D, Polk J, Dostrow V, Winkelmann M. A poliomyelitis-like syndrome from West Nile virus infection. N Engl J Med. 2002;347:1279-80 pubmed
  2. Giunta C, Randolph A, Al Gazali L, Brunner H, Kraenzlin M, Steinmann B. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). Am J Med Genet A. 2005;133A:158-64 pubmed
  3. de Gouyon B, Zhao W, Laporte J, Mandel J, Metzenberg A, Herman G. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet. 1997;6:1499-504 pubmed
    ..The low frequency of large deletions and the varied mutations identified suggest that direct mutation screening for molecular diagnosis may require gene sequencing...
  4. Parvari R, Hershkovitz E. Chromosomal microdeletions and genes' functions: a cluster of chromosomal microdeletions and the deleted genes' functions. Eur J Hum Genet. 2007;15:997-8 pubmed
  5. Risheg H, Graham J, Clark R, Rogers R, Opitz J, Moeschler J, et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007;39:451-3 pubmed
  6. Torno M, Vollmer M, Beck C. West Nile virus infection presenting as acute flaccid paralysis in an HIV-infected patient: a case report and review of the literature. Neurology. 2007;68:E5-7 pubmed
    ..We then review the medical literature on WNV infection occurring among patients who are infected with HIV. Unlike most of the cases reported in the literature, our patient had partial recovery of his neurologic deficits...
  7. Glass J, Samuels O, Rich M. Poliomyelitis due to West Nile virus. N Engl J Med. 2002;347:1280-1 pubmed
  8. Whitfield K, Kelly H. Using the two-source capture-recapture method to estimate the incidence of acute flaccid paralysis in Victoria, Australia. Bull World Health Organ. 2002;80:846-51 pubmed
    ..To estimate the incidence and the completeness of ascertainment of acute flaccid paralysis (AFP) in Victoria, Australia, in 1998-2000 and to determine its common causes among children aged under 15 years...
  9. Sejvar J, Bode A, Marfin A, Campbell G, Ewing D, Mazowiecki M, et al. West Nile virus-associated flaccid paralysis. Emerg Infect Dis. 2005;11:1021-7 pubmed
    ..A poliomyelitislike syndrome likely involving spinal anterior horn cells is the most common mechanism of WNV-associated paralysis and is associated with significant short- and long-term illness and death...
  10. Taban M, Memoracion Peralta D, Wang H, Al Gazali L, Traboulsi E. Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. J AAPOS. 2007;11:431-7 pubmed
    ..To review the clinical features of reported cases of Cohen syndrome with a focus on ophthalmic features and report nine new cases...
  11. Laporte J, Hu L, Kretz C, Mandel J, Kioschis P, Coy J, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996;13:175-82 pubmed
    ..At least three other genes, one located within 100 kb distal from the MTM1 gene, encode proteins with very high sequence similarities and define, together with the MTM1 gene, a new family of putative tyrosine phosphatases in man...
  12. Tanner S, Laporte J, Guiraud Chaumeil C, Liechti Gallati S. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Hum Mutat. 1998;11:62-8 pubmed
    ..Moreover, pedigree analyses provide first information on de novo mutation frequency in this newly identified human disease gene...
  13. Takaluoma K, Hyry M, Lantto J, Sormunen R, Bank R, Kivirikko K, et al. Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice. J Biol Chem. 2007;282:6588-96 pubmed
  14. Utsch B, Sayer J, Attanasio M, Pereira R, Eccles M, Hennies H, et al. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol. 2006;21:32-5 pubmed
    ..One patient had the association of JBTS and NPHP with chronic renal failure. This is the first report of AHI1 mutations causing JBTS associated with NPHP, confirming the clinical and genetic heterogeneity of NPHP...
  15. Sejvar J, Haddad M, Tierney B, Campbell G, Marfin A, Van Gerpen J, et al. Neurologic manifestations and outcome of West Nile virus infection. JAMA. 2003;290:511-5 pubmed publisher
    ..Some patients with WNV infection and meningitis or encephalitis ultimately may have good long-term outcome, although an irreversible poliomyelitis-like syndrome may result...
  16. Mercier J. [Clinical signs suggestive of bacterial meningitis in infants]. Med Mal Infect. 2009;39:452-61 pubmed publisher
    ..However, an alternative to these guidelines was recently suggested with a more clinically oriented decision-making attitude appearing as efficient while limiting hospitalizations...
  17. Suneja U, Castillo C, Disla A, Buyukgoz C, Burdea L, Sitnitskaya Y, et al. Acute upper extremity flaccid paralysis in a 5year old child secondary to enterovirus infection. Am J Emerg Med. 2017;35:1586.e1-1586.e2 pubmed publisher
    ..This is a case of acute onset flaccid paralysis of left upper extremity in a fully immunized 5 year old child in New York. ..
  18. Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies H. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem. 2011;286:37665-75 pubmed publisher
    ..In conclusion, our findings establish COH1 as a Golgi-associated matrix protein required for Golgi integrity...
  19. Spielmann M, Reichelt G, Hertzberg C, Trimborn M, Mundlos S, Horn D, et al. Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet. 2011;54:e441-5 pubmed publisher
    ..According to knock-out experiments the deletion of KLF13 could be an explanation for macrocytosis. The homozygous loss of TRPM1 could be a possible explanation for congenital retinal dysfunction...
  20. Bonthuis D, Morava E, Booij L, Driessen J. Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications. Paediatr Anaesth. 2009;19:212-7 pubmed publisher
    ..We also describe symptomatically related syndromes and their theoretical risks for anesthesia...
  21. Ronchi A, Doern C, Brock E, Pugni L, Sanchez P. Neonatal adenoviral infection: a seventeen year experience and review of the literature. J Pediatr. 2014;164:529-35.e1-4 pubmed publisher
    ..To describe the clinical manifestations and short-term outcomes of adenoviral infections in neonates and review all published cases to better determine impact and treatment outcomes...
  22. Sauvageau A, LaHarpe R, Geberth V. Agonal sequences in eight filmed hangings: analysis of respiratory and movement responses to asphyxia by hanging. J Forensic Sci. 2010;55:1278-81 pubmed publisher
    ..As for the respiratory responses, all cases presented deep rhythmic abdominal respiratory movements (last one between 1 min 2 sec and 2 min 5 sec)...
  23. Kvarnung M, Nilsson D, Lindstrand A, Korenke G, Chiang S, Blennow E, et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet. 2013;50:521-8 pubmed publisher
  24. Goto M, Ito K, Okamoto N, Sato N, Sasaki M. Cerebral blood flow on (99m)Tc ethyl cysteinate dimer SPECT in 2 siblings with monocarboxylate transporter 8 deficiency. Clin Nucl Med. 2013;38:e276-8 pubmed publisher
    ..A reduction in regional cerebral blood flow, as observed using SPECT, may be a common feature of monocarboxylate transporter 8 deficiency...
  25. Verhoeven W, Egger J, Cohen Snuijf R, Kant S, de Leeuw N. Phelan-McDermid syndrome: clinical report of a 70-year-old woman. Am J Med Genet A. 2013;161A:158-61 pubmed publisher
  26. Wanic Kossowska M, Czekalski S. [Hypotonia in renal failure patients undergoing dialysis therapy]. Pol Arch Med Wewn. 2007;117:58-63 pubmed
    ..The results of clinical studies indicate that persistent hypotonia in dialysis patients is associated with increased mortality...
  27. Connor M. Immune or not immune: two cases of acute flaccid motor paralysis. Pract Neurol. 2007;7:412-5 pubmed
  28. Ballarati L, Cereda A, Caselli R, Maitz S, Russo S, Selicorni A, et al. Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia. Eur J Med Genet. 2012;55:124-7 pubmed publisher
    ..The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males...
  29. Sbiti A, Ratbi I, Kriouile Y, Sefiani A. [Spinal muscular atrophy: frequent cause of congenital hypotonia in Morocco]. Arch Pediatr. 2011;18:1261-4 pubmed publisher
    ..In more than 95% of the cases, it results from deletion of exon 7 of the SMN gene localized on 5q13, easily identified by molecular biology...
  30. Giurgiutiu D, Espinoza L, Wood T, DuPont B, Holden K. Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant. J Child Neurol. 2008;23:112-7 pubmed publisher
    ..Extensive laboratory investigations indicate that the short-chain acyl-CoA dehydrogenase gene variant is likely preventing or delaying the normal expression of the Prader-Willi syndrome phenotype...
  31. Unger S, Mainberger A, Spitz C, Bähr A, Zeschnigk C, Zabel B, et al. Filamin A mutation is one cause of FG syndrome. Am J Med Genet A. 2007;143A:1876-9 pubmed
    ..Filamin A studies in other children with FG syndrome would help to confirm this association...
  32. Peall K, Lumsden D, Kneen R, Madhu R, Peake D, Gibbon F, et al. Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. Dev Med Child Neurol. 2014;56:642-8 pubmed publisher
    ..Loss-of-function mutations in NKX2.1, a gene vital to the normal development and function of the brain, lungs, and thyroid, have been identified in a number of individuals...
  33. Swinkels M, Simons A, Smeets D, Vissers L, Veltman J, Pfundt R, et al. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A. 2008;146A:1430-8 pubmed publisher
    ..Sequence analysis of this gene in nine additional patients with isolated trigonocephaly did not reveal any pathogenic mutations...
  34. Machado M, Cardoso P, Ribeiro I, Zamin Júnior I, Eilers R. Esophageal manometry and 24-h esophageal pH-metry in a large sample of patients with respiratory symptoms. J Bras Pneumol. 2008;34:1040-8 pubmed
    ..To determine the prevalence of gastroesophageal reflux disease (GERD) and to evaluate the esophageal motor profile of patients with respiratory symptoms referred to a digestive motility referral center for esophageal function testing...
  35. Jeon J, Namgung R, Park M, Park K, Lee C, Lee J, et al. X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation. Yonsei Med J. 2011;52:547-50 pubmed publisher
    ..In both cases, histological findings of muscle showed severely hypoplastic muscle fibers with centrally placed nuclei. From the family gene analysis, the Arg486STOP mutation in the MTM1 gene was confirmed...
  36. Scammell T, Willie J, Guilleminault C, Siegel J. A consensus definition of cataplexy in mouse models of narcolepsy. Sleep. 2009;32:111-6 pubmed
    ..This working definition provides helpful insights into murine cataplexy and should allow objective and accurate comparisons of cataplexy in future studies using mouse models of narcolepsy...
  37. Wibom R, Lasorsa F, Tohonen V, Barbaro M, Sterky F, Kucinski T, et al. AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med. 2009;361:489-95 pubmed publisher
    ..The child had global hypomyelination in the cerebral hemispheres, suggesting that impaired efflux of aspartate from neuronal mitochondria prevents normal myelin formation...
  38. Çevik S, Cevik M, Ozmen A. Iris-claw intraocular lens implantation in children with ectopia lentis. Arq Bras Oftalmol. 2017;80:114-117 pubmed publisher
    ..We aimed to compare visual outcomes and possible long-term complications of AICLI surgery in pediatric patients with ectopia lentis with or without a diagnosable hereditary disease...
  39. Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, et al. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet A. 2012;158A:772-8 pubmed publisher
    ..Congenital myopathies, a molecularly, histopathologically, and clinically heterogeneous group of disorders are considered to be a good candidate for massively parallel sequencing...
  40. Caraballo R, Pozo A, Gomez M, Semprino M. PEHO syndrome: a study of five Argentinian patients. Pediatr Neurol. 2011;44:259-64 pubmed publisher
    ..Autosomal recessive inheritance is suspected. Early diagnosis is important for adequate genetic counseling...
  41. Kumar A, Masamatti S, Virdi M. Periodontal diseases in children and adolescents: a clinician's perspective part 2. Dent Update. 2012;39:639-42, 645-6, 649-52 pubmed
  42. Pihlblad M, Schaefer D. Eyelid laxity, obesity, and obstructive sleep apnea in keratoconus. Cornea. 2013;32:1232-6 pubmed publisher
    ..The study also investigates the prevalence of obesity and obstructive sleep apnea (OSA) in KCN patients...
  43. Verbeek I, Vollebregt A, Halbertsma F, van Lindert E, Andriessen P. Acquired progressive hypotonia in infancy: consider compressive cervical myelopathy. Acta Paediatr. 2011;100:e128-9 pubmed publisher
    ..Magnetic resonance imaging showed compressive myelopathy at the level of vertebra C1. After laminectomy of the C1-vertebra the neurological symptoms resolved...
  44. Al Sayed M, Al Zaidan H, Albakheet A, Hakami H, Kenana R, Al Yafee Y, et al. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. Am J Hum Genet. 2013;93:721-6 pubmed publisher
    ..Hence, the two families we describe here represent instances of loss of function in human NALCN. ..
  45. Rodman R, Pine H. The otolaryngologist's approach to the patient with Down syndrome. Otolaryngol Clin North Am. 2012;45:599-629, vii-viii pubmed publisher
    ..Otolaryngologists are likely to see many patients with Down syndrome throughout their careers. This article reviews the literature to provide information and recommendations regarding management of Down syndrome...
  46. Barbat Artigas S, Rolland Y, Zamboni M, Aubertin Leheudre M. How to assess functional status: a new muscle quality index. J Nutr Health Aging. 2012;16:67-77 pubmed
    ..Briefly, the muscle quality score is based on handgrip strength assessment by hand dynamometer, muscle mass measurement by bioelectrical analysis, and leg muscle power estimation using a chair stand test...
  47. Chen C, Chang Y, Chern S, Wu P, Su J, Chen W, et al. Prenatal diagnosis of partial trisomy 3q (3q27.3?qter) and partial monosomy 14q (14q31.3?qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints. Gene. 2013;516:132-7 pubmed publisher
    ..We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints...
  48. Borkowski W, Riederer A, Prapamontol T. Neurological evaluation of newborn infants of mothers working in citrus groves in Northern Thailand. Int J Occup Environ Health. 2011;17:135-43 pubmed
    ..05) of abnormal muscle tone with adjusted odds ratios of 9.82 (CI = 1.42, 68.07) and 5.99 (CI = 1.003, 35.85) for exposure and anesthesia respectively...
  49. Grigori P, Panayiotou E, Sismani C, Koumbaris G, Ioannides M, Costalos C, et al. 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features. Eur J Med Genet. 2011;54:365-8 pubmed publisher
    ..It is the first case of 13q22.2q32.1 deletion where the breakpoints are clearly defined, indicating the importance of detailed clinical description and high-resolution genomic analysis for characterization of rare genetic syndromes...
  50. Jiang Y, Martinez J, Ou Z, Cooper M, Kang S, Pursley A, et al. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23). Am J Med Genet A. 2008;146A:1986-93 pubmed publisher
    ..The case report presented illustrates the value of using high-resolution microarray analysis for phenotypically abnormal individuals with apparently balanced chromosomal rearrangements, including inversions...
  51. Filho H, Marui S, Manna T, Brust E, Radonsky V, Kuperman H, et al. Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. Arq Bras Endocrinol Metabol. 2011;55:60-6 pubmed
  52. Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, et al. Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome. Clin Genet. 2011;80:478-83 pubmed publisher
    ..Our results represent a combination of iUPDs and hUPDs from maternal chromosome 6 involving a CUL7 mutation causing 3M syndrome...
  53. Shimojima K, Komoike Y, Tohyama J, Takahashi S, Paez M, Nakagawa E, et al. TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics. 2009;94:414-22 pubmed publisher
    ..Tulip1 was highly expressed in zebrafish brain, and knockdown of which resulted in brain developmental delay. Therefore, we suggest that TULIP1 is a candidate gene for developmental delay...