The genetic mutation that turns muscle into bone

From Wikipedia, the skeleton of Harry Eastlack at the Mutter Museum

From Wikipedia, the skeleton of Harry Eastlack at the Mutter Museum

In 1933 Harry Raymond Eastlack, Jr. was born with a rare genetic disease called fibrodysplasia ossificans progressiva (FOP) that turned his connective tissue (muscles, ligaments and tendons) into bone, causing him to have painful, restricted mobility throughout his 40 years.  FOP is very rare, only occurring in 1 in 2 million people worldwide, with only several hundred reported cases.  The disease can manifest itself after birth or after traumatic injury.

A baby born with FOP will appear normal immediately after birth, with only bent big toes betraying the presence of the genetic disorder.  Typically by the age of 10, the connective tissue in these children will begin to ossify, first affecting the joints causing limited movements and deformed posture.  Bone formation in people with FOP can be spontaneous and not associated with any trauma, or it can be caused by a minor injury like a stretched tendon or a pulled muscle.   Flare-ups can also be triggered by a spinal cord injury, amputation, surgery, and viral illnesses like influenza.

As people affected with FOP reach adulthood they may have difficulty speaking and eating because they cannot fully open their mouths, causing malnutrition.  They may also have a hard time breathing because of bone formation around the rib cage that constricts the expansion of the lungs.

The treatments that seem to be most effective are anti-inflammatory drugs, which researchers believe repress some of the early events associated with bone formation.  Surgical removal of the extra bone growths has been shown to cause the body to “repair” the affected area with more bone

At the time of his death in 1973, six days before his 40th birthday, Harry Raymond Eastlack, Jr. was only able to move his lips because the rest of his body had completely ossified.  He requested that his body be donated to science so that researchers could study it, and hopefully, find a cure for this rare disease.  His preserved skeleton is on display at the Mütter Museum in Philadelphia.

Read more at:

Genetics Home Reference

Scientific American

Wikipedia

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