Congenital Myopathies
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Top Contributors - Niha Mulla and Mila Andreew
Introduction[edit | edit source]
Congenital myopathies are a very broad term of rare disorders present at birth. The term Congenital myopathy is reserved for a group of rare, heterogenous, inherited, primary muscle disorders that cause Gross motor delay, poor coordination, and fascial weakness; various orthopedic considerations include foot deformities, joint contractures, hip dysplasia and scoliosis. Congenital myopathy also causes hypotonia and weakness at birth or during the neonatal period and, in some cases, delayed motor development later in childhood.[1][2][3][4][5][6][7]
Description:[edit | edit source]
As described above, Congenital myopathies are rare conditions representing a wide range of disorders in muscle development and function that cause muscle hypotonia and developmental delay. Over twenty genes have been associated with congenital myopathy subtypes. Facial and respiratory muscle weaknesses are common too.
Congenital myopathy differs in severity, and onset of symptoms. Symptoms can be present from birth, or they can slowly progress throughout the infancy and childhood. [7] [8][9]
Pathophysiology[edit | edit source]
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References[edit | edit source]
- ↑ Congenital myopathy. Wikipedia. Wikimedia Foundation; 2021. Available from: https://en.wikipedia.org/wiki/Congenital_myopathy
- ↑ Congenital myopathy. NORD (National Organization for Rare Disorders). 2020. Available from: https://rarediseases.org/rare-diseases/myopathy-congenital-batten-turner-type/#:~:text=Congenital%20myopathy%20(CM)%20is%20an,(mutations)%20in%20specific%20genes.
- ↑ Congenital myopathies: Symptoms, causes & outlook. Cleveland Clinic. Available from: https://my.clevelandclinic.org/health/diseases/22392-congenital-myopathy
- ↑ Lossin C, George Jr AL. Myotonia congenita. Advances in genetics. 2008 Jan 1;63:25-55.
- ↑ Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Current opinion in neurology. 2008 Oct 1;21(5):569-75.
- ↑ Romero NB, Clarke NF. Congenital myopathies. Handbook of clinical neurology. 2013 Jan 1;113:1321-36.
- ↑ 7.0 7.1 Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG. Congenital myopathies: an update. Current neurology and neuroscience reports. 2012 Apr;12(2):165-74.
- ↑ Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG. Congenital myopathies: an update. Current neurology and neuroscience reports. 2012 Apr;12(2):165-74.
- ↑ Bodamer O, Patterson M, Dashe J. Congenital myopathies. UpToDate.. Available from: https://www.uptodate.com/contents/congenital-myopathies
