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2012 1
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Page 1
Panorama of the distal myopathies.
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Savarese M, et al. Acta Myol. 2020 Dec 1;39(4):245-265. doi: 10.36185/2532-1900-028. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458580 Free PMC article. Review.
Myopathic congenital arthrogryposis is also a form of distal myopathy usually caused by focal amyoplasia. Massive parallel sequencing has further expanded the long list of genes associated with a distal myopathy, and contributed identifying as distal myopathy-causative rar …
Myopathic congenital arthrogryposis is also a form of distal myopathy usually caused by focal amyoplasia. Massive parallel sequencing …
Amyoplasia revisited.
Hall JG, Aldinger KA, Tanaka KI. Hall JG, et al. Am J Med Genet A. 2014 Mar;164A(3):700-30. doi: 10.1002/ajmg.a.36395. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459070 Review.
Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). ...Although prenatal ultrasound became the standard of care in 1990, only about one quarter of affected pregnancies were diagnosed prenatally since 1990. Amyopla
Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). ...Although prenatal ult
Amyoplasia and distal arthrogryposis.
Griffet J, Dieterich K, Bourg V, Bourgeois E. Griffet J, et al. Orthop Traumatol Surg Res. 2021 Feb;107(1S):102781. doi: 10.1016/j.otsr.2020.102781. Epub 2020 Dec 13. Orthop Traumatol Surg Res. 2021. PMID: 33321243 Free article. Review.
In the second type, there are two specific forms: Amyoplasia corresponds to a significant congenital absence of muscles (epigenetic disease or vascular origin) while distal arthrogryposis has a genetic component and is transmissible. ...
In the second type, there are two specific forms: Amyoplasia corresponds to a significant congenital absence of muscles (epigenetic d …
Arthrogryposis and amyoplasia.
Bernstein RM. Bernstein RM. J Am Acad Orthop Surg. 2002 Nov-Dec;10(6):417-24. doi: 10.5435/00124635-200211000-00006. J Am Acad Orthop Surg. 2002. PMID: 12470044 Review.
Inconsistent terminology has caused confusion about both diagnosis and treatment. Amyoplasia, the most common type of arthrogryposis, is characterized by quadrimelic involvement and replacement of skeletal muscle by dense fibrous tissue and fat. ...
Inconsistent terminology has caused confusion about both diagnosis and treatment. Amyoplasia, the most common type of arthrogryposis, …
[Arthrogryposis multiplex congenita].
Linnet KM, Balslev T, Møller-Madsen B. Linnet KM, et al. Ugeskr Laeger. 2015 Aug 10;177(33):V12140712. Ugeskr Laeger. 2015. PMID: 26320355 Free article. Review. Danish.
Primary aetiologies include neuropathic, myopathic, metabolic, end plate and vascular disorder affecting the developing foetus, including limitation of foetal space. Amyoplasia is the most common type of AMC after central nervous system disorders. Knowledge about the class …
Primary aetiologies include neuropathic, myopathic, metabolic, end plate and vascular disorder affecting the developing foetus, including li …
The Hand in Distal Arthrogryposis.
Alzahrani MA, Farr S. Alzahrani MA, et al. J Hand Surg Am. 2022 May;47(5):460-469. doi: 10.1016/j.jhsa.2021.10.027. Epub 2022 Feb 10. J Hand Surg Am. 2022. PMID: 35151520 Review.
Distal arthrogryposis is the second most common type of arthrogryposis after amyoplasia and is defined as arthrogryposis that affects hands and feet; it is mostly inherited in an autosomal-dominant fashion. ...
Distal arthrogryposis is the second most common type of arthrogryposis after amyoplasia and is defined as arthrogryposis that affects …
Arthrogryposis multiplex congenita.
Gordon N. Gordon N. Brain Dev. 1998 Oct;20(7):507-11. doi: 10.1016/s0387-7604(98)00037-0. Brain Dev. 1998. PMID: 9840670 Review.
In particular the subgroup of distal arthrogryposes and amyoplasia are considered. The importance of trying to define a cause is especially the need to give reliable genetic advice to the parents and also to establish a prognosis. ...
In particular the subgroup of distal arthrogryposes and amyoplasia are considered. The importance of trying to define a cause is espe …
Fetuses and infants with Amyoplasia congenita in congenital Zika syndrome: The evidence of a viral cause. A narrative review of 144 cases.
Hageman G, Nihom J. Hageman G, et al. Eur J Paediatr Neurol. 2023 Jan;42:1-14. doi: 10.1016/j.ejpn.2022.11.002. Epub 2022 Nov 9. Eur J Paediatr Neurol. 2023. PMID: 36442412 Review.
OBJECTIVES: Amyoplasia congenita is the most frequent type of arthrogryposis causing fetal hypokinesia, leading to congenital contractures at birth. ...CONCLUSION: The phenotype of arthrogryposis in CZVS is consistent with Amyoplasia congenita. These findings warran …
OBJECTIVES: Amyoplasia congenita is the most frequent type of arthrogryposis causing fetal hypokinesia, leading to congenital contrac …
Lower Extremity Deformity Management in Amyoplasia: When and How.
Song K. Song K. J Pediatr Orthop. 2017 Sep;37 Suppl 2:S42-S47. doi: 10.1097/BPO.0000000000001030. J Pediatr Orthop. 2017. PMID: 28799994 Review.
This article presents an approach to the musculoskeletal problems of children with amyoplasia. Although a very high percentage of children with have ambulatory potential, activity and function decline over time. ...
This article presents an approach to the musculoskeletal problems of children with amyoplasia. Although a very high percentage of chi …
[Congenital multiple arthrogryposis].
Parsch K, Pietrzak S. Parsch K, et al. Orthopade. 2007 Mar;36(3):281-90; quiz 291. doi: 10.1007/s00132-007-1044-0. Orthopade. 2007. PMID: 17323063 Review. German.
In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia are likely to be dependent on mobility aids throughout their lives. The ultimate goal of treatment for patients is to develop into self-co …
In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia
23 results