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MeSH Review

Muscle Hypotonia

 
 
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Disease relevance of Muscle Hypotonia

 

Psychiatry related information on Muscle Hypotonia

 

High impact information on Muscle Hypotonia

  • The primary defect caused by expression of the mutant alphaTm was a decrease in the sensitivity of contraction to activating Ca(2+), which could help explain the hypotonia seen in NM [11].
  • The most common symptoms were hypotonia, vomiting, convulsions, and coma [12].
  • TBX1, encoding a T-box-containing transcription factor, is the major candidate gene for del22q11.2 (DiGeorge or velo-cardio-facial) syndrome, characterized by craniofacial defects, thymic hypoplasia, cardiovascular anomalies, velopharyngeal insufficiency and skeletal muscle hypotonia [13].
  • The resulting defects in peroxisome metabolism and the accumulation of peroxisomal substrates are thought to cause the other Zellweger syndrome phenotypes, including neuronal migration defects, hypotonia, a developmental delay, and neonatal lethality [14].
  • Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome [15].
 

Chemical compound and disease context of Muscle Hypotonia

 

Biological context of Muscle Hypotonia

  • Mice carrying the Snrpn - Ube3a deletion on the paternal chromosome showed severe growth retardation, hypotonia and approximately 80% lethality before weaning [15].
  • Unwanted effects of DS 103-282 included transient piloerection, slight disturbance of gait and a fall in rectal temperature in mice, and muscular hypotonia and signs of sedation in baboons [21].
  • OBJECTIVE: To increase awareness of congenital disorders of glycosylation (CDG), we report the features of patients with a variety of clinical presentations ranging from mild hypotonia and strabismus to severe neurologic impairment [22].
  • Zellweger syndrome, the most lethal of the three peroxisomal biogenesis disorders, causes infantile hypotonia, seizures, and death within the first year [23].
  • All had normal neurodevelopmental status by 3 years, with the exception of one child from the severe group with ABO incompatibility with transient mild motor delay, hypotonia, and abnormal visual evoked potential [24].
 

Anatomical context of Muscle Hypotonia

 

Gene context of Muscle Hypotonia

  • Myotubular myopathy (MTM1) is an X-linked disease, characterized by severe neonatal hypotonia and generalized muscle weakness, with pathological features suggesting an impairment in maturation of muscle fibres [30].
  • Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene [31].
  • The abnormalities in the Zic1-/+ mice may be explained in part by the hypotonia caused by hypoplasia of the cerebellar anterior vermis, and these mice are regarded as a model of Joubert syndrome [32].
  • Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies [33].
  • Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe developmental delay, seizures, and hypotonia has been associated with mutations of the reelin gene [34].
 

Analytical, diagnostic and therapeutic context of Muscle Hypotonia

References

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  2. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. Hoppel, C.L., Kerr, D.S., Dahms, B., Roessmann, U. J. Clin. Invest. (1987) [Pubmed]
  3. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Buj-Bello, A., Laugel, V., Messaddeq, N., Zahreddine, H., Laporte, J., Pellissier, J.F., Mandel, J.L. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  4. Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. Suzuki, Y., Shimozawa, N., Yajima, S., Tomatsu, S., Kondo, N., Nakada, Y., Akaboshi, S., Lai, M., Tanabe, Y., Hashimoto, T. Am. J. Hum. Genet. (1994) [Pubmed]
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  12. Epidemic of fatal encephalopathy in preschool children in Burkina Faso and consumption of unripe ackee (Blighia sapida) fruit. Meda, H.A., Diallo, B., Buchet, J.P., Lison, D., Barennes, H., Ouangré, A., Sanou, M., Cousens, S., Tall, F., Van de Perre, P. Lancet (1999) [Pubmed]
  13. The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Kelly, R.G., Jerome-Majewska, L.A., Papaioannou, V.E. Hum. Mol. Genet. (2004) [Pubmed]
  14. PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. Li, X., Baumgart, E., Morrell, J.C., Jimenez-Sanchez, G., Valle, D., Gould, S.J. Mol. Cell. Biol. (2002) [Pubmed]
  15. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Tsai, T.F., Jiang, Y.H., Bressler, J., Armstrong, D., Beaudet, A.L. Hum. Mol. Genet. (1999) [Pubmed]
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  20. Folic acid deficiency and hypotonia. Ozsoylu, S. J. Pediatr. (1980) [Pubmed]
  21. Anticonvulsant actions of DS 103-282. Pharmacological studies in rodents and the baboon, Papio papio. De Sarro, G.B., Croucher, M.J., Meldrum, B.S. Neuropharmacology (1984) [Pubmed]
  22. Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. Enns, G.M., Steiner, R.D., Buist, N., Cowan, C., Leppig, K.A., McCracken, M.F., Westphal, V., Freeze, H.H., O'brien, J.F., Jaeken, J., Matthijs, G., Behera, S., Hudgins, L. J. Pediatr. (2002) [Pubmed]
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  27. Acrocallosal syndrome: new findings. Moeschler, J.B., Pober, B.R., Holmes, L.B., Graham, J.M. Am. J. Med. Genet. (1989) [Pubmed]
  28. Wernicke's syndrome after bariatric surgery. Salas-Salvadó, J., García-Lorda, P., Cuatrecasas, G., Bonada, A., Formiguera, X., Del Castillo, D., Hernández, M., Olivé, J.M. Clinical nutrition (Edinburgh, Scotland) (2000) [Pubmed]
  29. Abnormal chloride and potassium conductances in cultured embryonic tongue muscle from trisomy 16 mouse. Peng, S., Rapoport, S.I., Pearce, R.J., Galdzicki, Z. Brain Res. Dev. Brain Res. (2000) [Pubmed]
  30. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Blondeau, F., Laporte, J., Bodin, S., Superti-Furga, G., Payrastre, B., Mandel, J.L. Hum. Mol. Genet. (2000) [Pubmed]
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  33. Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. Bhat, S.S., Schmidt, K.R., Ladd, S., Kim, K.C., Schwartz, C.E., Simensen, R.J., DuPont, B.R., Stevenson, R.E., Srivastava, A.K. Cytogenet. Genome Res. (2006) [Pubmed]
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  35. Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. den Boer, M.E., Dionisi-Vici, C., Chakrapani, A., van Thuijl, A.O., Wanders, R.J., Wijburg, F.A. J. Pediatr. (2003) [Pubmed]
 
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