Article
Arthrogryposis as a neuromuscular phenotype: lessons from PIEZO2 loss-of-function.
Practical neurology - 20 Sept 2026
Seneor Daniel Delgado, Mendes Patrícia Marques, Garcia Fernando Augustus De Paula Barreto, da Silva Eduardo Mendonça Werneck, Farias Igor Braga, Barile João Paulo, Cavalheiro Renan Brandão Rambaldi, Serrano Paulo de Lima, Pinto Wladimir B V R, Oliveira Acary Souza Bulle, Souza Paulo Victor Sgobbi de
Abstract excerpt
Arthrogryposis multiplex congenita is a heterogeneous group of disorders characterised by multiple joint contractures resulting from impaired fetal movement. A 43-year-old woman presented with a long-standing congenital clubfoot, progressive scoliosis since childhood and distal joint contractures. She had pure sensory findings, with global areflexia, severe sensory ataxia and a positive Romberg sign,...
Read the complete abstract on PubMedTopics
- Humans
- Female
- Arthrogryposis
- Ion Channels
- Adult