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Rare diseases – there are a ton of them, right? They can often times be difficult to treat just because they are not as common, the population may be widespread, and there just simply hasn’t been much research done to effectively help the people and remain “evidence-based.”
I’ve decided to try to undergo a little series here in regards to helping people with a rare genetic disease called “Nail Patella Syndrome.” Why, you may ask? Oh wait, because I have it too! While this syndrome varies widely in presentation, many factors and things seen are similar.
Those of you who have NPS may not need this brief overview, but I’ll just summarize some typical physical clinical findings and a general presentation. Please remember that EVERYONE with NPS varies in presentation – there is not just “one” type of presentation. Due to other co-morbidities, health conditions, lifestyle factors, etc., nobody presents exactly the same.
Nails – people will generally have abnormal looking fingernails and toenails, especially the thumbnails.
Elbows – people may be unable to fully extend the arm at the elbow, they may also be unable to supinate fully at the forearm due to an increased growth of the radial head (this made it SUPER easy for my partners to palpate my radial head during PT school, ha). On the other hand – people may have underdeveloped bones in the elbow, leading it to be easily dislocated.
Shoulders – not usually talked about, but due to the inability for some to turn the palms up (supinate), the shoulders may become more unstable and demonstrate increased external rotation. Think about it – if you can’t turn your palms up all the way, you will compensate and use what you have next up the chain — your shoulder! Many also present with underdeveloped scapulae.
Back – Generally, people with NPS present with increased lumbar lordosis – meaning a little more curve in the lower spine. This may make the buttocks appear more prominent. This extra curvature could also make gaining weight in the stomach region and pregnancy even more painful in the lower back. With weight in the stomach, gravity naturally pulls your body more forward, creating an angle in your lumbar spine. Already having an angle there may just make the pain a little more evident.
Hips – When I asked my professor about “iliac horns” in PT school, she looked at me like I had 2 heads. Yes, these are talked about being present on diagnostic imaging; however, they generally do not affect anything. Hips, as with most people, may tend to be stiff and inflexible. At times, people may complain of pain in the groin area due to a muscular imbalance in the hip and core region which may cause a hip impingement.
Knees – People may present with abnormally small kneecaps, or at times, no kneecap at all. This can predispose these people for dislocations if there is decreased musculature around the surrounding areas. The small size of these kneecaps and easy dislocation ability may also then cause pain under the kneecap where it improperly glides and/or partially dislocates in/out of place.
General appearance – It may be difficult for this population to gain weight, particularly muscle, especially in the proximal musculature (upper arm and upper leg). While difficult, it is not impossible by any means. It certainly just takes more work and dedication and the proper exercise program.
Fatigue – Many will note chronic fatigue syndrome. Many times this may be due to lack of activity due to abnormal kneecaps, other underdevelopments of the musculoskeletal system, or even fear of getting involved due to social reasons with the abnormality. The more active you are – whatever it may be – over time, your body will build up endurance, allowing you to participate in more activities and feel more energy.
Pain – Many will also complain of general pain, chronic pain, etc. especially at the knee joint and other joints in the body. While people with NPS have a different musculoskeletal makeup, it is at times not all that different. To feel more stable in your joints, you must have more musculature supporting them. The issue here is that it tends to be more difficult to gain muscle when you have NPS.
So, you get a general picture, right? Some people have things worse, some better. The word syndrome defined, per good ole Merriam-Webster, “a group of signs and symptoms that occur together and characterize a particular abnormality or condition.” Meaning NPS is mainly a collection of signs and symptoms that tend to present together and make up this condition. Having NPS doesn’t mean NPS will cause something necessarily, it is just the makeup of the body with NPS (the genetic mutation, the other parts of your genetic history, your diet and exercise habits) that then may cause other things to happen. Don’t get me wrong, obviously abnormal kneecaps and fingernails were caused from the genetic mutation – but you must be careful when talking about certain symptoms that may not be associated directly with NPS.
If you’d like to read up more about the disease, I have provided a few public links below. Again, these are just a few. A quick google search will give you more available links:
So..you have NPS. What next? Stay tuned as I write up a few exercise programs, tips, tricks, and adaptations to help you manage your pain, improve your function, and hopefully improve your quality of life! Not to mention helping you understand NPS and your body a little better 🙂