概述
Fibrodysplasia ossificans progressiva (FOP) is a condition in which bone grows outside the skeleton. Abnormal bone growth replaces connective tissue, including tendons and ligaments.
FOP is caused by a genetic mutation. It’s the only recognized condition that causes one organ system to morph into another.
There’s no cure for this chronic, progressive disorder. The goal of treatment is to reduce symptoms.
Continue reading to learn more about FOP and why early diagnosis is crucial, plus tips for raising awareness of this condition.
FOP becomes apparent early in childhood. Infants are usually born with short, malformed big toes. Bone and joint problems make it hard for babies to learn to crawl. Abouthalf of people使用FOP也有畸形的拇指。
Bone overgrowth tends to start in the neck and shoulders, causing periodic bouts of painful inflammation. This is sometimes accompanied by a low-grade fever.
该疾病以不同的速度进行。最终，它会影响树干，背部，臀部和四肢。随着疾病的进展，可能会出现以下症状：
- Movement can become severely restricted as bone grows into joints.
- 脊柱可能变形或融合。
- 有限的流动性可能导致平衡和协调问题，可能导致由于下降而导致伤害。即使是轻微伤害也会导致更多的炎症和骨骼生长。
- 胸部的骨骼生长会限制呼吸，从而增加呼吸道感染的风险。任何病毒疾病都会引发大火。
- Limited movement of the jaw can make it hard to eat, which can lead to malnutrition and weight loss. Talking can also be difficult.
- 关于half of people具有FOP经验的听力障碍。
- 血液流量不佳会导致血液或腿部的血液集合，从而导致明显的肿胀。
有FOP的人最终会完全固定。
FOP不会引起额外的骨骼生长：
- tongue
- 膜片
- extraocular muscles
- 心肌
- smooth muscle
FOP是由ACVR1基因突变引起的。该基因参与骨骼的生长和发育。该突变使他们能够不受限制地成长。
该基因可以从一个父母那里继承，但是在大多数情况下在FOP中，这是一个没有家族史的人的新突变。
有FOP的父母有一个
FOP极为罕见。有800 confirmed cases worldwide, with 285 of them in the United States. Gender, ethnicity, and race play no role. Unless you have a parent with FOP, there’s no way to assess your risk of developing the condition.
因为它是如此罕见，所以大多数医生从未见过FOP案例。
Diagnosis depends on medical history and clinical examination. Symptoms of FOP include:
- 大脚趾的畸形
- spontaneous flare-ups of inflammation or soft tissue swelling
- increased flare-ups after injury, viral illness, or immunizations
- difficulty moving
- 由于跌倒而经常受伤
在X射线和MRI等成像测试中可能会看到过多的骨形成，但不需要诊断。可以通过基因检测确认诊断。
The misdiagnosis rate could be as high as80％。最常见的误诊是癌症，侵略性纤维瘤病和纤维发育不良。
早期，可以将FOP与其他条件区分开的症状是畸形的大脚趾。
It’s vitally important to get the correct diagnosis as soon as possible. That’s because certain tests and treatments for other conditions can cause flare-ups and encourage bone growth.
没有可以放慢疾病或阻止疾病进展的治疗方法。但是特定症状的治疗可以改善生活质量。其中一些是：
- 皮质类固醇减轻爆发过程中的疼痛和肿胀
- nonsteroidal anti-inflammatory drugs (NSAIDs) between flare-ups
- assistive devices such as braces or special shoes to help with walking
- 职业治疗
没有什么能使新骨头消失的。手术将导致更多的骨骼生长。
An important part of your treatment plan has to do with what to avoid. A biopsy, for example, can cause rapid bone growth to the area.
肌内注射（例如大多数免疫）也会引起问题。必须谨慎地进行牙科工作，避免注射和颌骨伸展。
钝性创伤或因跌倒而受伤会导致爆发。任何增加这些风险的体育活动都应避免。
FOP在怀孕期间可能很危险，这可能会增加母亲和婴儿的爆发机会和并发症。
FOP is chronic and there’s no cure. Treatment can help ease symptoms and improve quality of life.
每个人的进展速度都不同，很难预测。有些人几个月甚至几年就没有发动爆发。
FOP可能会严重致残。
因为这是一种罕见的状况，所以大多数人从未听说过FOP。
无法防止它。FOP没有传染性，但是对人们进行这种情况的深刻影响仍然很重要。
由于缺乏资金，稀有疾病的研究缓慢移动。越来越多的知名度可以帮助将研究金钱推向需要。
Start by familiarizing yourself with organizations that raise awareness for FOP. They can tell you about programs and services, as well as how research dollars are spent. Here are a few:
Some of the organizations that raise awareness for rare diseases in general are:
引起注意罕见疾病的最佳方法之一就是分享您自己的故事。了解有关FOP的所有知识，以便您可以提供准确的信息并回答问题。
那么，您如何说出这个词？这里有一些想法可以让您入门：
- Network with others affected by FOP or other rare diseases.
- 与FOP或罕见疾病有关的联系组织。提供分享您的故事并自愿提供帮助。
- 接触报纸和电视台，并提出要采访。
- Contact health bloggers and ask them to write about FOP or let you provide a guest post. Or start your own blog.
- 提议在学校和当地团体发言。参加健康博览会。加入NORD扬声器局。
- Contact state and national representatives to discuss research funding.
- Use social media platforms such as Facebook, Twitter, and Instagram to spread the word.
- 为组织或特定研究项目筹集筹款活动。
- Get involved inRare Disease Day。