About 408 results

ALLMedicine™ Arthrogryposis Multiplex Center

Research & Reviews  159 results

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia...
American Journal of Human Genetics; Marafi D, Kozar N et. al.

Aug 11th, 2022 - The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central and/or peripheral nervous systems. LGI1 antibodies are detected in subjects with autoimmune...

Commentary on "Characterizing Pain Among Adolescents and Young Adults With Arthrogrypos...
Pediatric Physical Therapy : the Official Publication of ... Dahan-Oliel N, Sawatzky B

Jul 2nd, 2022 - Commentary on "Characterizing Pain Among Adolescents and Young Adults With Arthrogryposis Multiplex Congenita".|2022|Dahan-Oliel N,Sawatzky B,|diagnosis,

Disability and Quality of Life After Talectomy for Arthrogryposis Multiplex Congenita.
Foot & Ankle International; Sevencan A, Akdogan A et. al.

Jun 15th, 2022 - Arthrogryposis multiplex congenita (AMC) is one of the causes of rigid and resistant clubfoot. Talectomy is considered as a primary or salvage procedure for recurrent equinovarus deformity in these patients. We conducted this study to assess patie...

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis ...
American Journal of Medical Genetics. Part A; Weber M, Jaber D et. al.

Jun 11th, 2022 - The recent finding that some patients with fetal akinesia deformation sequence (FADS) carry variants in the TUBB2B gene has prompted us to add to the existing literature a first description of two fetal FADS cases carrying TUBA1A variants. Hithert...

Characterizing Pain Among Adolescents and Young Adults With Arthrogryposis Multiplex Co...
Pediatric Physical Therapy : the Official Publication of ... Sions JM, Donohoe M et. al.

Jun 1st, 2022 - Primary study objectives were to ( a ) characterize pain and explore differences between adolescents and adults with arthrogryposis multiplex congenita (AMC) and ( b ) evaluate associations between pain-related outcomes and mobility. People who ca...

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Clinicaltrials.gov  2 results

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation

May 26th, 2022 - Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint contractures at two or more distinct joint levels at birth. More than 400 causes are currently known. The prevalence is estimated at 1/3000 to 1/2000. Join...

Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease

Nov 30th, 2021 - Arthrogryposis multiplex congenita (AMC) refers to a rare disease spectrum characterized by the presence of joint contractures at birth in at least two different body areas. Causes are multiple. Amyoplasia and distal arthrogryposes are the most fr...

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News  1 results

CDC Defines Congenital Zika Syndrome

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...

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Patient Education  1 results see all →