Stone man disease

Stone man disease, or fibrodysplasia ossificans progressiva (FOP), is an inherited disease which presents between the age of 2 and 5 years old, and which gradually encloses the human body in a second skeleton. The muscles and tissues are converted into bone plaques, joints cease to function, and the patient rapidly becomes unable to move.

Caring for the disease?

It is impossible to treat Stone Man disease and any intervention accelerates its progression : Removing additional bones leads to increased production of other bones and even a simple blood sample can cause formation of new bone plaques.

Stone Man disease soon to be broken?

In April 2006, researchers announced that they had discovered the identity of the gene responsible for FOP. It is a gene located on the second chromosome which codes the ACVR1receptor, a protein involved in bone morphogenesis. According to the results of the study, mutation of a single nucleotide in one of the two copies of the gene is sufficient to trigger the disease.