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About 1,085 results

ALLMedicine™ Arthrogryposis Center

Research & Reviews  418 results

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant sp...
https://doi.org/10.1016/j.braindev.2022.04.006
Brain & Development; Yamamoto K, Ohashi K et. al.

May 9th, 2022 - Bicaudal D homolog 2 (BICD2) is a causative gene of autosomal-dominant lower extremity-predominant spinal muscular atrophy-2 (SMA-LED2). The severity of SMA-LED2 varies widely, ranging from cases in which patients are able to walk to cases in whic...

Growth orientations, rather than heterogeneous growth rates, dominate jaw joint morphog...
https://doi.org/10.1111/joa.13680
Journal of Anatomy; Godivier J, Lawrence EA et. al.

May 6th, 2022 - In early limb embryogenesis, synovial joints acquire specific shapes which determine joint motion and function. The process by which the opposing cartilaginous joint surfaces are moulded into reciprocal and interlocking shapes, called joint morpho...

A novel ZC4H2 variant in a female with severe respiratory complications.
https://doi.org/10.1016/j.braindev.2022.04.009
Brain & Development; Wakabayashi T, Mizukami M et. al.

May 4th, 2022 - An X-linked ZC4H2 variant is associated with a variety of phenotypes that have abnormalities related to external malformation and neurodevelopment. There have been no reports on severe respiratory dysfunction resulting in surgical treatments not b...

COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansi...
https://doi.org/10.1002/ajmg.a.62768
American Journal of Medical Genetics. Part A; Mishra R, Kulshreshtha S et. al.

May 3rd, 2022 - Pontocerebellar hypoplasia (PCH) type 12 is a rare, perinatal lethal neurodegenerative genetic disorder caused by biallelic mutations in the COASY gene. Herein, we describe the clinical and neuroradiological profile of nine affected fetuses/neonat...

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia...
https://doi.org/10.1016/j.nmd.2022.03.007
Neuromuscular Disorders : NMD; Kamien B, Clayton JS et. al.

Apr 29th, 2022 - Arthrogryposis is a consequence of reduced fetal movements and arises due to environmental factors or underlying genetic defects, with extensive genetic heterogeneity. In many instances, the genes responsible are involved in neuromuscular function...

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Drugs  5 results see all →

Clinicaltrials.gov  1 results

WREX Outcome Study
https://clinicaltrials.gov/ct2/show/NCT02218593

Aug 18th, 2014 - The WREX (Wilmington Robotic EXoskeleton) is being used by many children with neuromuscular conditions such as arthrogryposis and muscular dystrophy. Nemours/A.I. duPont Hospital for Children alone has provided a WREX for about 80 children in the ...

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News  8 results

Hydrocephalus: New Complication of Congenital Zika Syndrome
https://www.medscape.com/viewarticle/905510

Nov 23rd, 2018 - Hydrocephalus may be a complication of congenital Zika syndrome, and the presenting signs and symptoms are challenging to recognize, a Brazilian group reports. Monitoring for hydrocephalus, including assessing the potential harbinger of cerebellar...

Zika-linked birth defects climbing in U.S. hot spots
https://www.mdedge.com/obgyn/article/157034/zika/zika-linked-birth-defects-climbing-us-hot-spots
M. Alexander Otto

Jan 25th, 2018 - The prevalence of birth defects strongly linked with congenital Zika virus infection increased 21% from the first to the second half of 2016 in areas of the United States with local, endemic transmission: Puerto Rico, south Florida, and southern T.

Recognizing Congenital Zika Syndrome
https://www.mdedge.com/neurology/article/128509/rare-diseases/recognizing-congenital-zika-syndrome

Jan 3rd, 2017 - VANCOUVER—Infants infected with Zika virus in utero may develop a syndrome characterized by brain volume loss, intracerebral calcifications, and spasticity. They may develop dyskinesia or seizures after several months, and a subset of children has.

CDC Defines Congenital Zika Syndrome
https://www.medscape.com/viewarticle/871391

Nov 3rd, 2016 - Recognizing the congenital Zika syndrome (CZS) phenotype defined by the Centers for Disease Control and Prevention (CDC) allows clinicians to provide comprehensive workup and management for infants and children, according to a literature review pu...

Arthrogryposis Associated With Zika Infection In Utero
https://www.medscape.com/viewarticle/867461

Aug 15th, 2016 - Arthrogryposis in infants can be associated with congenital Zika virus infection, according to a new retrospective case series published in the BMJ. Arthrogryposis is characterized by joint contractures at birth and has been described in patients ...

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Patient Education  2 results see all →