Muscles, bones and growth #4

00:00:01: Welcome to Crystal Clear.

00:00:03: In this podcast, we share knowledge and experiences around cystinosis To help make living with this chronic disease a little more manageable And a bit easier in everyday life.

00:00:14: We're glad you are here With us!

00:00:16: This episode brings together expert knowledge from medicine, physical therapy and endocrinology.

00:00:35: And shows how patients and their families can actively contribute to their own physical strength.

00:00:41: Joining me now is Professor Suzanne Becktold Head of the Division of Pediatric Diabatology & Endocrinologist and a specialist in pediatric and adolescent medicine at LMU University Hospital Munich.

00:00:54: Professor Becktould why is bone health so important for us?

00:00:58: Well, our bones have to carry us through our entire lives and they play a decisive role in quality of life.

00:01:04: If I can move freely enjoy movement and do so without pain that makes the real difference.

00:01:10: That's why it is important to build strongbones during youth So you benefit from foundation later on.

00:01:16: How does bone development work?

00:01:18: And how muscles and movements positively affect the bones.

00:01:22: Bone mass increases every day during childhood and adolescence, simply because children and teenagers are still growing.

00:01:30: On top of that there is an additional phase of bone maturation that continues until roughly age twenty-five to twenty eight.

00:01:37: after that it plateaus with the hormonal changes that come with aging a bit earlier in women than in men bone mass begins to decline again.

00:01:46: The key question is how high was that peak?

00:01:49: Because from that plateau, bone density can drop into a range where bone strength becomes compromised.

00:01:55: As for your second question — how do movement and muscle play a role?

00:01:59: Bone mass can only be built through muscle pull... ...and muscle pull comes from physical activity.

00:02:05: It is a reactive process.

00:02:07: What gets used…gets built.

00:02:09: That's why regular movement directly leads to greater bone density.

00:02:13: Are there other factors that influence bone health?

00:02:15: The disease itself can certainly have a negative impact on bone development, particularly when it affects the muscles.

00:02:23: Poor nutrition can also be harmful to bones.

00:02:26: Whether a diet especially rich in protein or calcium provides additional benefit is actually still somewhat debated.

00:02:33: but if you eat a normal balanced diet and absorb nutrients well that is clearly beneficial for your bones.

00:02:40: You touched this already.

00:02:41: Do I need follow special diet keep my bones healthy?

00:02:45: No, not at all.

00:02:46: A normal balanced diet along the lines of what The German Nutrition Society recommends is perfectly sufficient.

00:02:53: That means plenty of fiber lots of fruits and vegetables And moderate amounts of carbohydrates and protein.

00:03:00: If you stick to a healthy balance diet that's good for your overall health and bones.

00:03:05: Professor Beck told how did come work with cystinosis?

00:03:09: I've been studying bone health for a long time, in children with chronic conditions as well as unhealthy children.

00:03:16: That's how i found my way to cystinosis.

00:03:19: the team caring for Children With Cystinosis needed a Bone Specialist and so I joined them.

00:03:25: And what is this specific connection between bones and cystinoses?

00:03:29: Patients with cystinosus are now being diagnosed and treated early which means they have longer life expectancy And with that comes the importance of staying healthy into adulthood, not necessarily old age but simply living without significant physical limitations.

00:03:46: Bone health is a key part of that!

00:03:48: We also know patients with cystinosis are at higher risk for fractures—for a variety of reasons.

00:03:54: A fracture is painful, of course But it impacts quality-of life through additional medical appointments and by making it harder to participate in everyday social activities.

00:04:05: That is why bone health is so fundamental for this patient group.

00:04:09: In these patients, bone-health is closely tied to muscle health.

00:04:13: We cannot eliminate all bone related risks but we can encourage patients to move more.

00:04:18: that Is actually one of the reasons for this podcast To motivate people with cystinosis to be more physically active.

00:04:24: The type of movement does not matter that much.

00:04:27: You do not have to join a gym But you should move as much as possible.

00:04:31: A common rule of thumb is around four hours a physical activity per week, and that includes everyday things like walking to-and from work.

00:04:39: So the car probably should not be the default—that kind of regular movement supports healthy physical

00:04:44: development.".

00:04:45: Thank you so much Professor Becktold, head of The Division of Pediatric Diabetes and Endocrinology and specialist in pediatric and adolescent medicine at LMU University Hospital Munich!

00:04:58: Now let's take a closer look at the topic of growth and hormones with Dr.

00:05:03: LK Vuhl.

00:05:04: She is a specialist in pediatric and adolescent medicine, And a senior physician In this section of Pediatric Nephrology At Heidelberg University Hospital.

00:05:14: Doctor Vuhhl How common Is Growth Impairment in Cystinosis?

00:05:18: Many children With cystinoses do experience growth impairment.

00:05:22: On one hand, cystinosis itself can directly affect bone growth.

00:05:27: On the other hand, as kidney function declines over time chronic kidney disease adds another layer of growth disruption.

00:05:34: These overlapping effects can lead to significant growth impairment in affected children.

00:05:39: How significant is this growth impairment?

00:05:41: Before cystiamine became available and before growth hormone therapy existed The average adult height for untreated men with cystinosis was around one hundred thirty six centimeters And for women around one-hundred twenty four centimeters.

00:05:55: That's a very pronounced form of short stature, and in daily life.

00:05:59: it comes with real limitations.

00:06:01: For example when it comes to mobility getting a driver's license or simply navigating everyday situations.

00:06:07: When is growth hormone treatment necessary?

00:06:12: If a child is not within the normal growth range, despite optimal nutrition appropriate therapy good electrolyte supplementation and successful correction of acidosis.

00:06:22: And once hypothyroidism has been ruled out then growth hormone therapies should be considered.

00:06:26: if The Growth Velocity Is So Low That The Child Is Falling Behind The Normal Growth Curve.

00:06:31: It's also essential that the growth plates are still open.

00:06:34: in older adolescents that window may already have closed which means growth hormone therapy no longer an option.

00:06:40: Can you tell us how effective growth hormone therapy is?

00:06:43: In younger children who still have relatively good kidney function, the response tends to be quite good.

00:06:49: There can be genuine ketchup growth meaning children reach a height within the normal range.

00:06:53: Importantly this ketchup growth does not have negative effect on kidney function.

00:06:57: The response generally better in older children or those on dialysis after kidney transplantation.

00:07:06: but it is still worth starting growth hormone therapy and seeing whether overall height can be improved as long the growth plates are open.

00:07:13: Once the growth plate closes, therapy must stop.

00:07:16: It's also typically discontinued when growth under hormone treatment falls below one centimeter per year After a kidney transplantation, growth hormone therapies should initially be paused.

00:07:24: It could be restarted if growth remains insufficient following transplantation But as general rule A one-year break is observed first.

00:07:31: Doctor Vuel How did you come to focus on cystinosis?

00:07:35: Early in my career, I had the opportunity to take over a study on growth hormone therapy which included a specific component on growth-hormone treatment in children with cystinosis.

00:07:45: It was a European project involving eighty patients.

00:07:48: that's how i came to Cystinosis and of course I also helped care for the Cystinosus patients who were being treated at our clinic at the time .I've stayed with the topic ever since.

00:08:10: We've learned a lot about what's happening inside the body.

00:08:13: Now, The Question becomes What impact does cystinosis have on muscles and how can we actively support our bodies?

00:08:21: I'm now joined by Dr.

00:08:22: Nadine Herzegg, pediatric orthopedic surgeon at Shone Clinic Munich.

00:08:27: Dr.

00:08:28: Herzeg, what kinds of changes to bones and muscles do you see in cystinosis?

00:08:33: How does the musculoskeletal system change over

00:08:35: time?".

00:08:36: The changes are actually quite varied... ...and they depend heavily on age.

00:08:40: Depending when we see a patient….

00:08:42: …they present with different musculos skeletal findings!

00:08:45: Let me start with the very youngest – these children sometimes see shortly after birth because cystinosus is now being diagnosed early—in some cases through newborn screening.

00:08:56: In children who are diagnosed that early, we sometimes see almost no musculoskeletal changes at all.

00:09:02: Children we see in early childhood — those diagnosed a bit later— often show developmental delays.

00:09:08: They reach what we call motor milestones such as sitting independently or walking freely later than expected.

00:09:15: This is usually linked to general muscle weakness.

00:09:18: The encouraging news is once these children start treatment things typically normalize.

00:09:23: In slightly older children, we often see flat feet or overpronated feet.

00:09:27: And as they approach puberty leg axis deformities start to appear such as knock knees and later sometimes spinal curvatures as well.

00:09:35: All of these changes are influenced by the muscles and that is precisely what gives us the opportunity To have a positive impact through targeted muscle training.

00:09:43: I will come back to that in a moment!

00:09:45: In adults We very commonly see changes in the hands because grip strength decreases.

00:09:51: people start having difficulty opening jars or with gripping.

00:09:54: in general, we can actually measure this decline and grip strength.

00:09:57: That said there are also patients who show very few or almost no musculoskeletal changes at all.

00:10:03: We do not yet fully understand what sets those patients apart but over the years it has become clear that tend to have better outcomes, similar to other patients with chronic kidney disease who can positively influence their metabolism blood pressure overall frailty and especially their muscle health through regular physical activity.

00:10:23: In our clinic it is always a priority to identify these changes early and provide age-appropriate individualized recommendations.

00:10:30: Do you recommend physical therapy as preventive measure?

00:10:34: Not as a preventive measure, no.

00:10:36: However if during an examination we find that a child is not developing in line with their age We do recommend physical therapy.

00:10:44: In that case it should be specifically tailored to the child's developmental needs and It can be very valuable addition helping children make faster progress toward their motor milestones.

00:10:54: For adults we recommend physical or occupational therapy Specifically for hands but again, only when problems arise not as a general preventive measure.

00:11:04: What matters far more in this context is regular physical activity and that's something everyone has to take responsibility for themselves.

00:11:12: one physical therapy session per week isn't a substitute.

00:11:16: what do you recommend?

00:11:19: In general, people with cystinosis can follow the WHO's Standard Activity Guidelines.

00:11:27: For People With Chronic Conditions—the recommendations are same as for healthy individuals—approximately one hundred and fifty minutes of endurance-based activity per week plus muscle strengthening exercises twice a week.

00:11:38: Both endurance and strength training should be integrated into daily life and routine.

00:11:43: The key thing for anyone with a chronic condition is to adapt these guidelines to your individual capabilities, and ideally get a medical checkup first.

00:11:51: To make sure that you're heart and circulation are in good shape before starting certain types of physical activity.

00:11:56: Can I still exercise if i'm on dialysis?

00:11:59: Absolutely!

00:12:00: There's actually a multi-center study conducted across multiple centers over an extended period That looked at structured exercises during dialysis sessions.

00:12:10: Participants used what's called a bed cycle, a recumbent bike during dialysis along with various resistance exercises performed seated or lying down.

00:12:19: The results were very positive.

00:12:22: the challenge is that this kind of program Is currently only available at a limited number of dialysis centers because there's no nationwide funding in place yet.

00:12:30: But it's always worth asking your dialysis center whether they offer something like this.

00:12:34: Some individual physicians and facilities do take the initiative to provide on their own, And It may not even be widely known everywhere.

00:12:41: So bringing up idea yourself can make a real difference.

00:12:45: What should kept in mind after kidney transplant?

00:12:48: After a kidney transplant you generally begin light exercise and gentle physical activity again around eight weeks after surgery Always with doctor clearance first.

00:12:58: To make sure training safely After transplantation, there are a few restrictions – particularly around muscle strengthening exercises and certain sports going forward.

00:13:08: You need to be mindful that the transplanted organ is not put at risk of injury.

00:13:12: Contact sports like kickboxing for example are probably NOT THE BEST IDEA!

00:13:17: Extreme trunk extensions & lying face down can also difficult many patients early on…and some long term as well.

00:13:25: You also need to be careful not to overexert yourself, avoid blood pressure spikes and not push the point of exhaustion.

00:13:32: But in principle a kidney transplant is absolutely NOT a reason to stop being physically active!

00:13:38: Where can people find information about exercise and cystinosis?

00:13:42: Are there resources or videos available?

00:13:45: Yes, there are some good resources online.

00:13:48: On the SL Purse website at cellpurse.com you can find various talks on cystinosis in general including one specifically on exercise and physical activity.

00:13:59: What is particularly great, Is that the Cystinosis Foundation offers a free weekly online exercise program led by John Kennedy from Hamburg.

00:14:08: Anyone can join from home and many of these exercises are specifically designed with cystinosis in mind targeting muscle groups we know most important to address.

00:14:18: There is also the German Society for Rehabilitation Sports, for patients with chronic kidney disease which offers videos and information on exercise.

00:14:26: Chronic Kidney Disease And The Dialysis Exercise Program I mentioned earlier.

00:14:30: You can find that at RennieOnline.de.

00:14:33: That's R-E-N-I Online.De.

00:14:37: Doctor Herzig How did you come to work with cystinosis?

00:14:41: About fourteen years ago, Dr.

00:14:43: Hohenfelner came to our department and asked if anyone would be interested in providing orthopedic care for cystinosis patients.

00:14:51: I've always been curious and drawn to new challenges beyond the purely orthopedics scope.

00:14:57: So at the end of two thousand twelve i drove To The very first consultation which was in tronstein At the time And i have been involved ever since.

00:15:05: Thank you so much dr.

00:15:06: Nadine herzig pediatric Orthopedic surgeon at shone clinic munich.

00:15:11: We also received a message from Louise.

00:15:14: Hi!

00:15:14: My name is Louise Richter, I'm a cystinosis patient and am twenty-three years old.

00:15:20: At first i didn't exercise at all... ...I did not really take seriously the effects that doctors had described.

00:15:27: After being very inactive.. ..I noticed it was taking a toll on me.... I was tired & run down more often than before.

00:15:35: That's when decided to start exercising because I realized that had to make a change, and feel better again.

00:15:41: Since then i've been working out regularly...I feel so much better!

00:15:45: I have more energy…and I feel stronger….more like myself again.

00:15:49: Let's wrap up with the summary of everything we covered today.

00:15:53: Bones & Muscles are essential.

00:15:55: They carry us through our entire lives.

00:15:58: In cystinosis they're often affected.

00:16:01: Regular physical activity is critical for development both muscles AND bones.

00:16:06: It can also have a positive impact on various aspects of cystinosis, and it matters for all patients regardless of age.

00:16:15: Our experts recommend around four hours physical activity per week as general guideline or more specifically about one hundred fifty minutes endurance based activity plus muscle strengthening exercises twice-a-week.

00:16:28: All this should be adapted to your individual capabilities.

00:16:31: And remember everyday movement like walking or cycling counts too!

00:16:36: A healthy balanced diet is also important.

00:16:39: The German Nutrition Society recommends plenty of fiber, vegetables and fruit with moderate amounts of carbohydrates and protein And regular medical checkups are essential to ensure that any growth impairment is detected and treated as early as possible.

00:16:55: Thank you so much for listening.

00:16:56: If you'd like to learn more, the Cystenosis Foundation offers further podcast episodes and videos that provide helpful information and support for everyday life with cystenosis.

00:17:07: Do take a look!

00:17:08: And see in next episode.