Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.
Sign Up to like & getrecommendations! Published in 2017 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2017.0048
Abstract: Congenital Zika Virus Infection: Beyond Neonatal Microcephaly To the Editor In their timely description on the major central nervous system lesions caused by Zika virus (ZIKV) congenital infection, Melo et al1 reported on the neuroimaging,… read more here.
Keywords: congenital infection; infection; motor; zika virus ... See more keywords
Prenatal Diagnosis of SMPD4 loss - a neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies.
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal diagnosis"
DOI: 10.1002/pd.6324
Abstract: SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the… read more here.
Keywords: smpd4 loss; neurodevelopmental disorder; loss; arthrogryposis ... See more keywords
Neurogenic arthrogryposis and the power of phenotyping
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.07.399
Abstract: In this article we review the commonest cause of neurogenic arthrogryposis, termed Spinal Muscular Atrophy Lower Extremity Dominant (SMALED), due to variants in DYNC1H1 and BICD2. We discuss the characteristic clinical and radiological phenotype of… read more here.
Keywords: arthrogryposis; arthrogryposis power; neurogenic arthrogryposis; power phenotyping ... See more keywords
Long term ophthalmic complications of distal arthrogryposis type 5D
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2141791
Abstract: ABSTRACT Background Distal Arthrogryposis type 5D (DA5D) is a rare genetic disease, expressed phenotypically by skeletal and ocular abnormalities. Materials and methods Two sisters, ages 42 and 46 years old, were ascertained, both diagnosed with arthrogryposis… read more here.
Keywords: long term; ophthalmic complications; arthrogryposis type; distal arthrogryposis ... See more keywords
Patient-Reported Outcome Measurement Information System (PROMIS) Scores in Pediatric Patients With Arthrogryposis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Orthopaedics"
DOI: 10.1097/bpo.0000000000001933
Abstract: Supplemental Digital Content is available in the text. Background: Arthrogryposis multiplex congenita (AMC) is a clinical term that is used to describe congenital contractures that lead to childhood deformities. Treatment aims are to maximize function… read more here.
Keywords: mobility; pain interference; patient reported; arthrogryposis ... See more keywords
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a002063
Abstract: GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogryposis… read more here.
Keywords: horn cell; gle1 associated; motor; arthrogryposis ... See more keywords
Mechanosensation and joint deformities
Sign Up to like & getrecommendations! Published in 2023 at "Science"
DOI: 10.1126/science.adf6570
Abstract: Description Dysfunction of a mechanosensor in sensory neurons causes joint contracture Arthrogryposis is a condition that is characterized by limitation in the range of joint movement owing to shortening of connective tissue, tendon, and/or muscle.… read more here.
Keywords: mechanosensation joint; arthrogryposis; muscle; joint deformities ... See more keywords
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Child Neurology"
DOI: 10.1177/08830738211072694
Abstract: Background Expand the knowledge about the clinical phenotypes associated with pathogenic or likely pathogenic variants in the SCN1A gene. Methods The study was carried out in 15 patients with SCN1A variants. The complete phenotype of… read more here.
Keywords: phenotype; malformations cortical; cortical development; scn1a gene ... See more keywords
Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.872264
Abstract: The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental disorder with microcephaly, arthrogryposis, and… read more here.
Keywords: neurodevelopmental disorder; variants smpd4; brain; report ... See more keywords
Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.989215
Abstract: Objective: Pathogenic variants in NEK9 (MIM: 609798) have been identified in patients with lethal congenital contracture syndrome 10 (OMIM: 617022) and arthrogryposis, Perthes disease, and upward gaze palsy (APUG and OMIM: 614262). The shared core… read more here.
Keywords: novel variants; variants nek9; nek9 associated; neonatal arthrogryposis ... See more keywords