Distal Arthrogryposis (AMC)

Distal Arthrogryposis, also known as arthrogryposis multiplex congenita, is related to arthrogryposis, distal, type 5 and arthrogryposis, distal, type 1a, and has symptoms including arthralgia, metatarsalgia and muscle cramp. An important gene associated with Distal Arthrogryposis is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. The drugs Tolvaptan and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are muscle and growth/size/body region