Arthrogryposis as a neuromuscular phenotype: lessons from PIEZO2 loss-of-function

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, significantly affecting her balance and gait. Genetic analysis identified two likely pathogenic variants in the PIEZO2 gene, consistent with an autosomal recessive inheritance pattern. We discuss the differential diagnosis of arthrogryposis multiplex congenita, emphasising the importance of considering neuromuscular causes. This case highlights the role of comprehensive neurological assessment in patients with distal joint contractures and scoliosis, showing that detailed peripheral neurological findings can guide genetic testing and lead to an accurate diagnosis.