Fibrodysplasia Ossificans Progressiva: Difference between revisions
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== Etiology/Causes == | == Etiology/Causes == | ||
*Genetic R206H mutation of the ACVR1 gene | |||
*ACVR1 gene is a bone morphogenetic protein (BMP) type1 receptor signaling endochondral ossification | |||
*R206H mutation leads to an increase in enhanced BMP signaling | |||
*Confirmation of a heterozygous gene mutation of the ACVR1 gene<br><br> | |||
== Systemic Involvement == | == Systemic Involvement == |
Revision as of 23:15, 21 March 2016
Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - Krista Polanin, Carly McArtor, Clinton Morris, 127.0.0.1, Elaine Lonnemann, Oyemi Sillo, WikiSysop and Kim Jackson
Definition/Description[edit | edit source]
Fibrodysplasia Ossificans Progressiva is a rare, genetic disorder than transforms ligaments, muscles and tendons into bone outside the skeleton that impairs movement.
Prevalence[edit | edit source]
- 1 in every 2 million people are diagnosed with Fibrodysplasia Ossificans Porgressiva
- Nearly 90% of the time it is misdiagnosed and mismanaged. (Lakkrieddy)
- 67% undergo invasive procedures for diagnosis and treatment
- More than 50% end up with lifelong disabilities
- Mostly occurs in children
Characteristics/Clinical Presentation
[edit | edit source]
- Hearing impairments in approximately 50% of patients
- Pneumonia and right sided heart failure
- Controversial malformations
- Ossification of intercostal muscles
- Kyphoscoliosis and lordosis
- Severe weight loss
- Torticollis
- TMJ complications
Medications[edit | edit source]
For acute flare-ups:
- short term high does corticosteroids
- NSAIDS
- Biophosphonates
- Radiotherapy
Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
Blood samples
- Indicate presense of heterozygous R206H mutation of the ACVR1 gene
Etiology/Causes[edit | edit source]
- Genetic R206H mutation of the ACVR1 gene
- ACVR1 gene is a bone morphogenetic protein (BMP) type1 receptor signaling endochondral ossification
- R206H mutation leads to an increase in enhanced BMP signaling
- Confirmation of a heterozygous gene mutation of the ACVR1 gene
Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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