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進行性肌肉骨化症

Name of disease:

Fibrodysplasia Ossificans Progressiva (FOP)

ICD-10 diagnosis code:

M611

Causes:

Most cases of FOP are sporadic, which means they occur in people with no history of the disorder in their family. It is caused by the mutation of gene ACVR1 in bone morphogenetic protein pathway, therefore affecting the formation of skeleton and repair of skeleton

Mode of inheritance:

Most cases are sporadic or are inherited from parents in autosomal dominant pattern.

Prevalence:

1/ 2,000,000

Diagnosis:

The diagnosis of FOP is based on the symptoms and physical examination of the patients to see if they have short great toes Molecular genetic testing for ACVR1 gene mutation can be done to confirm the diagnosis

Age of onset:

Neonatal

Common signs and symptoms:

>Malformation in great toes and thumbs Spontaneous flare-ups or inflammation or soft tissue swelling Increased flare-ups after injury, viral illness or immunization Difficulty in moving Frequent injury due to falling Reduced spine movement

Available treatments (medicinal and non-medicinal):

There have not been effective treatments so far for FOP, but clinical trials are underway. Currently, medications are used to relieve pain and swelling associated with FOP such as corticosteroids and non-steroidal anti-inflammatory drugs.

Disease management tips:

Patients with FOP should avoid biopsies because when tissue is removed for biopsies, there may be rapid bone formation in those areas. Intramuscular injection (immunization) must be avoided too because there may be flare-ups Patients should avoid falls and injury which cause blunt trauma because it may cause abnormal bone development Patients with progressive mobility impairment may have increased risk of respiratory infection. To prevent infection, patients may receive preventative antibiotic therapy. Occupational therapy, special shoes and braces may assist patients in walking.

References:

https://rarediseases.org/rare-diseases/fibrodysplasia-ossificans-progressiva/ https://www.healthline.com/health/fibrodysplasia-ossificans-progressiva-fop https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/

Other useful websites:

Patient Groups: International Fibrodysplasia Ossificans Progressive Associationhttps://www.ifopa.org