Living Statue Syndrome
Fibrodysplasia ossificans progressiva (FOP)
Chromosome involved and inheritance pattern
- The second chromosome is affected at position 23-q24.
- This disorder is autosomal dominant.
- People with this disorder cant have children. This means the only way to get the disorder is by a mutation in the gametes.
- The protein that is affected by this altered gene is called ACVR1.
- This protein is found in many body cells, its responsible for the repair and growth of the cells.
- The shape is altered.
- The amino acid arginine is substituted for histidine.
How is the individual affected?
- The disorder causes painful growths of bone.
- All people with FOP have malformed big toes from birth, also many people with FOP are born with muscles already turned into bone.
- Most bone formation happens at early ages, but it can happen later or in life as well.
- Special clothing, braces and other devices can help the affected person.
- There's no known effective treatment for FOP.
- Surgery is not an option becasue it just causes more bone to grow.
Statistics of FOP
- FOP occurs in about 1 in 2 million people worldwide.
- Only a several hundred cases reported.
- It doesn't affect one gender more than another.
- People with FOP shouldn't get biopsies becasue it just causes more bone to grow rapidly.
- People with FOP cant get Intramuscular injections (ex. flu shots) becasue bone will rapidly grow around the area.
- People with FOP should also avoid any situations where they could fall, it could cause blunt trauma and cause more bone to grow.