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Disease name : Fibrodysplasia ossificans progressiva ( FOP ) , also known as " rock man disease " or " Münchmeyer disease "
Affected populations : FOP isan super rarified disease that is estimated to affectaround 1 in 1 million multitude . It does not affect one demographic more than others ; anyone may rise FOP , regardless of their sexual urge , race or ethnicity .
The skeleton of a patient who had FOP, showing the marked presence of excessive bone tissue.
Causes : FOP is triggered by a mutation in a gene calledACVR1 , which is necessitate in a cellular appendage thatregulates the geological formation of the skeletonin the womb and then orchestrate skeletal repair throughout life . The genetic mutation causes the ACVR1 gene to become more active , moderate to inappropriate bone shaping .
In most cases , this sport go on randomly in hoi polloi who have no mob account of the disease . However , in rare instance , patient may inherit the mutation from one parent who is affected by the condition . Only one written matter of the mutate gene is required to cause FOP .
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An early flare-up of FOP in an infant’s back (left) and excess bone formation in a young man’s back (right).
Symptoms : FOP stimulate the body ’s brawn and connective tissue to be gradually replace with bone tissue . This essentially forms a second skeletonthat impede the person ’s drift . One of the first signs that someone has FOP is that they haveshortened and wrick - in big toesfrom birth . Around 50 % of patients will also have similarlymalformed thumbs .
Symptoms of FOP commonly start during childhood , with some of the former affected areas ordinarily being theneck , back , chest of drawers , arms and ramification . Patients may also have " flare - ups , " which are episode oftissue excrescence , pain sensation and stiffnessthatworsen the condition . These flare - ups can occur ad lib , or they may be actuate by some sorting of harm , such as an combat injury , surgery or a viral infection , like the flu . Other symptoms of FOP includedifficult speaking or eating(if the mouth is affected and can not get to the right way ) , as well ashearing loss and spinal deformity .
By eld 30 , most patients with FOP are completelyunable to move . The intermediate life anticipation of mass with the disease isaround 56 years . The most common cause of end is cardiorespiratory bankruptcy due to patientslosing the ability to breathe .
intervention : pain pill and anti - inflammatory drugs , such as corticosteroids , can aid manage patients ' symptoms . patient role may also be advised to takeextra precautionsto minimize the risk of injury and infection , and they may engage in occupational therapy to help oneself them carry out daily activities .
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Doctors ca n’t conduct surgery to absent supererogatory ivory tissue paper , as thiscould inadvertently trigger further flare - ups of the condition .
In 2023 , the U.S. Food and Drug Administrationapproved an unwritten drug called palovarotene(brand name : Sohonos ) for the treatment of FOP in females 8 years and older and males 10 years and honest-to-goodness . This approval followeda clinical trialin 107 patient with the condition . Those treat with the drug showed a reduction in unreasonable off-white organization — around 54 % low-spirited than restraint .
This article is for informational purpose only and is not meant to offer aesculapian advice .
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