NPS (Nail Patella Syndrome) – General Clinical Presentation

Hey Everyone!

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.

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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.

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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.

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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:

https://rarediseases.org/rare-diseases/nail-patella-syndrome/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735400/pdf/v040p00153.pdf

https://www.nhs.uk/conditions/nail-patella-syndrome/

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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 🙂

 

Keep an eye out for the first blog — NPS and Knee Pain!

Until next time,

Jen

LennyLarry

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The Safe Way to Improve Your Shoulder Flexibility: A Self-Study

As many people may know, I recently began participating more in yoga. One of my goals in 2016 was first to run a half-marathon, and then to get more flexible (and do a cool handstand with the sunset in the background like one of those super cool yogis). While we are taught in physical therapy school the different ways to lengthen and “stretch” a muscle, I have now started to actually experience it, because I want to. Nothing like putting your knowledge to work and getting a better perspective, right?

While there are many viewpoints in regards to muscle extensibility, I feel the article by Weppler and Magnusson describes it well. A muscle’s length tends to be measured one-dimensionally; however, there are many factors that come into play when increasing a muscle’s length and extensibility. We are not one-dimensional humans, we have joint capsules, various tissues and fascia pulling in different directions, muscles overlapping one another, ligaments holding our joints together. We are by no means one-dimensional, and neither is our ability to move. According to the science of biomechanics, we already know and understand that muscle length is multi-dimensional, so why do we keep attempting to stretch and measure it in only one way? (This is a segway to another future write-up…) There are many different theories and reasons behind why our muscles appear to lengthen after a short-term stretch including an alteration in pain and sensation, a short-term relaxation due to neuromuscular reflexes, etc. Anyway, knowing that there are many factors that come into play with stretching allows us to take a step back, breathe, and realize this is going to take time (if you want to do it effectively and appropriately). Without patience, you risk greatly injuring yourself, and maybe not even at the site of the stretch due to all of the overlapping tissues in your body. Let this be a reminder to you that our bodies are pretty amazing (and also insane, but still amazing).

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While I have not yet reached my perfect handstand (with the sunset in the background), I have come to find and critique each one of my movements so that I may focus on different aspects of stretching, strengthening, and balancing in order to achieve that “perfectly aligned” handstand. As a physical therapist, this opportunity and goal setting has been an amazing learning experience. As a beginner yogi, this has also been a wonderful learning experience. Let me break it down for you a little in some pictures.

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From a Beginner Yogi: This was my first documented (on Instagram) “wheel pose” back in May 2016. I used to do this known as a “bridge” when I was younger. I didn’t fully understand the concept of how to improve my form yet, nor did I have the flexibility for it. But the water was cool and it was a sunny day, so why not yoga?

From a Physical Therapist: Lacking full shoulder flexion – do we need to test that in standing just against gravity first before we do things like this? There’s a little thoracic extension here, but that could use some work. I can see tight hip flexors and a compensation of a heel raise to allow for more flexibility and space to open up. Just need to be careful not to overcompensate and start using the lumbar spine to make up for the lack of shoulder and thoracic flexibility.

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Second documented wheel pose in August 2016, while I was participating in a “yoga challenge” ..also at a Goo Goo Dolls concert (lol, what).

From a Beginner Yogi: Cool lighting, cool background, at a concert, cool. Plus I need to do my yoga for the day, right!? I didn’t have time for a warm up at all here, just kind of whipped this one out. Thanks for the pic, Mom! Hope you aren’t too embarrassed!

From a Physical Therapist: Am I starting to compensate using my lumbar spine? Is that safe? And wait, no warm up? I hope I don’t injure something, even holding these prolonged stretches can damage you. Wow, those hips flexors are still tight, definitely a (+) Thomas test, if you know what I mean. And still compensating with the heel raise? Hm. And yeah, we definitely need to work on that full shoulder flexion and elbow extension… what exercises can we do? (And by we, I mean me, myself, and I).

(Minimal disclaimer: My elbows don’t actually extend fully due to being born with a rare genetic disease that causes bone abnormalities. In my case, it is a large radial head which limits my ability to fully supinate as well as fully extend my elbow. BUT I think the yoga has actually slowly been helping, a little. Long story short, I am not going to target them, because it’s more of a bone on bone end range and is just silly to try to realistically change that.)

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So from this point on, I am looking at myself in these pictures and thinking… Wow, I really need to be careful, I could really injure myself. Luckily, I see this. Not every patient will. Many will continue to push through the pain to get that “perfect picture.” Or work harder to be able to get back on the playing field, or back to work to support his/her family, or back to just being able to play with his/her friends. This is key. Education is key.

Overuse, improper stretching, and pushing through pain make up a great deal of the injuries out there. It is our jobs, as physical therapists, yogis, athletes, humans, to educate ourselves and others on these risks. There is nothing wrong with setting goals and trying to achieve them, we just need to make sure we do it safely.

So where did I start? Well, I’d say back in September 2016 is when I really started focusing more on stretching my shoulders and my thoracic (upper back) region. It is still very much a work in progress, and will certainly continue to be. These are the main exercises I perform below:

  1. Foam roller for improved thoracic extension or “Fish Pose” on a foam roller: To perform this, I initially start with my hands behind my neck to support my head, elbows in for additional support. I roll myself a few times over the foam roller along my upper back from the base of my neck to the end of my ribcage or so. After a few reps, I begin breathing and arching my back a little more and holding the pose to allow for an additional static stretch. I also will perform this without a foam roller as I feel comfortable.
  2. “Puppy pose” for improved shoulder flexion and thoracic extension on the floor and on the foam roller. I perform this a few different ways and hold it for a few breaths (anywhere from 30 seconds to 2 minutes pending how I’m feeling). Make sure not to compensate with your lower back here – really focus on breathing and pressing your shoulders and chest forward and down.
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    2. img_20170113_070842196 Not exactly puppy pose here, but still working on pressing the shoulders into the ground.
    3. img_20170113_074717866 More of an “extended” puppy pose, really trying to push the chest forward and down.
  3. Doorway stretch: 2 different ways
    1. Pec Stretch: Arms up, parallel to the floor. Gently lean in with a lunge. You should feel a stretch on the front of your arm/chest area. (Sorry for the hair – thanks 1 Mission Fitness for the cool shirt, though).
      1. Shoulder Flexion: Similar set up to the pec stretch, but I would extend my arm up higher. Allow your shoulder to sink into the wall while you lunge.
  4. Hanging shoulder flexion stretch (Not sure what else to call this): I would generally hold onto something above me, whether it be at the gym (a pole or something), a doorway, etc. Again, gently lean in without compensating using your upper or lower back. By performing such a compensation, you are only cheating yourself! And no, this isn’t me, but during the pictures, I couldn’t reach 😀 so I had to use my model substitute 😉

Additionally, I would do these a few times with a hold of 30-60 seconds, then perform some sort of yoga pose that utilized the new “space” I achieved from my short-term stretching. After all, mobility before stability, right?

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October 2016. (Saulita Skull Leggings from AltarEgo Apparel – they have a Gandhi quote on the front inside of them!)

As I analyze myself these next few pictures, I definitely notice a difference in my overall flexibility. Some of it may be from the warm up I did before the picture, some of it may not, I’m not totally sure how to differentiate. What I do know is that stretching the proper way and progressing the safe way is saving me from an increased risk of injury (specifically lower back here).

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January 2017

The above 2 pictures are from the same day, very recently, in the beginning of January. This was the first time I felt I could safely go into the wheel pose on my forearms. As you can see, my shoulder flexion is improving, slowly but surely. Again, still a work in progress and I still need to do my own home exercise program, maybe even add on a few other different stretches to challenge the multiple dimensions of my joints, but I am getting there. My point here again is that this takes time, it is not going to happen overnight, or even in a few weeks. Whether you are trying to improve your general flexibility (like me) or your patient is recovering from a torn ACL, the emphasis is the same. The most important thing is patience so that you are not placing yourself or your patient at an increased risk of injury.

Anyways, I hope my journey thus far has taught you something, inspired you to teach something to someone else, or just been fun to read/laugh at my experience. 😀

Until next time,

Jen Strack

P.S. Because I’m a “beginner yogi” and obsessed with cool pants.. Here are the links and codes for discounts to some of the pants I was wearing in the pictures above. Because they’re awesome and I like to reward myself sometimes and I think you should too 😉

1 – The Saulita Skull Leggings from October 2016 are from Altar Ego Apparel -> http://www.altaregoapparel.com/ – An all female run company. Code “JNS” gets you 15% off.

2 – Red Bohemian pants are from Bohemian Pants.com -> Bohemian Pants. Code: “x3jennyfur10” gets you 10% off AND they donate 10% of your purchase to help save the environment !

Citations:

Cynthia Holzman Weppler, S. Peter Magnusson; Increasing Muscle Extensibility: A Matter of Increasing Length or Modifying Sensation?. 2016; 90 (3): 438-449. doi: 10.2522/ptj.20090012