Fibrodysplasia

Fibrodysplasia is a rare connective tissue disorder that involves the progressive ossification of soft tissues, leading to the formation of extra-skeletal bone. This condition is also known as Fibrodysplasia ossificans progressiva (FOP).

Symptoms

The symptoms of fibrodysplasia usually appear in early childhood. The first indication is often malformed big toes, which are present at birth. Other early symptoms can include stiffness in the neck and shoulders, and difficulty moving joints. As the condition progresses, soft tissues progressively turn into bone, restricting movement and leading to disability.

Causes

Fibrodysplasia is caused by a mutation in the ACVR1 gene. This gene provides instructions for making a protein that is involved in the growth and development of bones and muscles. The mutation leads to the protein being constantly active, which promotes the formation of bone in soft tissues.

Diagnosis

Diagnosis of fibrodysplasia is based on the clinical symptoms and genetic testing. The characteristic malformed big toes can provide an early clue. Genetic testing can confirm the diagnosis by identifying the mutation in the ACVR1 gene.

Treatment

There is currently no cure for fibrodysplasia. Treatment is aimed at managing symptoms and improving quality of life. This can include physical therapy to maintain mobility, and surgery to remove extra bone. However, surgery is risky as it can lead to more bone formation.

See also

• Connective tissue disease
• Genetic disorder
• Bone disease

References

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