What is Stone Man Syndrome?

Stone man syndrome, strange name right? 

The condition is as rare as its name, it affects 1 in every 2 million people. 

What is Stone man syndrome? 

Stone man syndrome is also referred to as fibrodysplasia ossificans progressiva (FOP) in scientific studies. FOP is a genetic condition in which damaged muscles and connective tissues (like those of ligaments and tendons) turn into bone, leading to the formation of a second skeleton. This newly formed skeleton causes stiffness and inability to move, causing troubles in locomotion. 

What are the signs and symptoms of Stone man syndrome?

The first sign is usually soft painful masses growing around the neck and head. It also characterizes abnormally big toes, stiffness in the joints, movement difficulties, difficulty in speaking, hearing impairment and trouble breathing. These signs can be noticed in early childhood. It starts by affecting the neck and shoulders and progresses down the body.

What are the causes of Stone man syndrome? 

Most cases happen because of mutation in genes or genetic inheritance of either of the parents. It is caused by gene mutation in activin receptors (ACVR1).

What is the cure for Stone man syndrome?

Sadly, there is no cure or effective treatment for it, and the available options are limited. Even surgery to remove extra bone can cause more bone to grow. It is very destructive and disabling because even a small injury can trigger more bone growth. 

However the symptoms can be managed by taking proper medications and following necessary precautions.