Results 51 to 60 of about 10,279 (206)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Three consecutive pregnancies having arthrogryposis multiplex congenita

, 2018
Arthrogryposis Multiplex Congenita is a syndrome or disorder that presents with multiple congenital joint contractures at birth. It is X-linked recessive disorder, non-progressive and is of variable severity.
Garg, Shirin, Tandon, Pooja, Juneja, Sunil K.   +2 more
core   +1 more source

Feasibility and Challenges of Performing Magnetoencephalography Experiments in Children With Arthrogryposis Multiplex Congenita

Frontiers in Pediatrics, 2021
Arthrogryposis multiplex congenita (AMC) has recently drawn substantial attention from researchers and clinicians. New effective surgical and physiotherapeutic methods have been developed to improve the quality of life of patients with AMC.
Semyon A. Golosheykin, Evgueni D. Blagoveschenskiy, Evgueni D. Blagoveschenskiy, Olga E. Agranovich, Maria A. Nazarova, Maria A. Nazarova, Vadim V. Nikulin, Vadim V. Nikulin, Olesya E. Moiseenko, Russell W. Chan, Russell W. Chan, Anna N. Shestakova   +11 more
doaj   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Congenital Brachial Arthrogryposis

, 1993
Two patients with congenital cervical spinal muscular atrophy and arthrogryposis limited to the upper limbs are reported from the Hospital Enschede, The Netherlands, and University Hospital RWTH Aachen ...
J Gordon Millichap
core   +1 more source

ARC syndrome

The Turkish Journal of Pediatrics, 2017
Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity.
Mehmet Mutlu, Yakup Aslan, Filiz Aktürk-Acar, Murat Çakır, Erol Erduran, Mukaddes Kalyoncu   +5 more
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Arthrogryposis Congenita and Hepatorenal Abnormalities

, 1990
Arthrogryposis multiplex congenita with renal and hepatic abnormalities, demonstrated at autopsy in a two month old child of consanguineous parents, is reported from the Pediatric Hospital, Coimbra ...
J Gordon Millichap
core   +1 more source

Association of arthrogryposis in neonates with microcephaly due to Zika virus - a case serie

Revista Brasileira de Saúde Materno Infantil
Introduction: in 2015 an increasing number of congenital microcephaly cases were associated to maternal infection due to Zika virus. Some of these patients presented other alterations and arthrogryposis was the most frequently found.
Ana Catarina Matos Ishigami Alvino, Luísa Rocha Medeiros de Mello, Jucille do Amaral Meneses Meira de Oliveira   +2 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source