Living Statue Syndrome

Fibrodysplasia ossificans progressiva (FOP)

What is It?

FOP is a disorder that makes muscle tissue and connective tissue slowly turn into bone. Slowly trapping the affected person with bone.

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.
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Protein effected

  • 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.
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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.

Treatments

  • 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.
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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.

Interesting facts

  • 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.