Arthrogryposis as a neuromuscular phenotype: lessons from PIEZO2 loss-of-function.
Daniel Delgado Seneor, Patrícia Marques Mendes, Fernando Augustus De Paula Barreto Garcia et al.
✦ AI-curated · Sources linked
Case in brief
A 43-year-old woman presented with congenital clubfoot, progressive scoliosis, and distal joint contractures. Neurological examination revealed pure sensory findings, global areflexia, severe sensory ataxia, and a positive Romberg sign, impacting her balance and gait. Genetic testing identified two likely pathogenic variants in the PIEZO2 gene, confirming an autosomal recessive inheritance pattern and leading to a diagnosis of arthrogryposis multiplex congenita.
Diagnostic / clinical pearl
This case underscores the importance of a thorough neurological assessment in patients with joint contractures, as peripheral neurological findings can inform genetic testing and diagnosis.
Why it matters
Considering neuromuscular causes in the differential diagnosis of arthrogryposis multiplex congenita can lead to more accurate diagnoses and better patient management.