Leri-Weill dyschondrosteosis
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- Опубліковано 17 сер 2018
- This is a lecture about the genetic condition Leri-Weill dyschondrosteosis, designed for trainees and medical professionals.
Lecture by Olivia Heutlinger. Edited by Philip M. Boone, MD, PhD.
Acknowledgement: We thank Prof. Dr. med. Gerhard Binder for reviewing the script.
Video featuring LWD patients: • Leri-Weills syndrom
References:
NORD
rarediseases.org/rare-disease...
Orphanet
www.orpha.net/consor/cgi-bin/...
GeneReviews
www.ncbi.nlm.nih.gov/books/NB...
For more information on clinical trials, visit
www.clinicaltrials.gov
Disclaimer: This video is not intended to guide medical decision making by physicians, patients, or families.
Thanks for posting this as every Dr. Ive seen in over 60 years has had to research to grasp this condition. Was diagonsed in my late teens at University hospital in Washington. Wasnt even called lwd then. Just dyschondorstis. Very severe madelungs in both wrists with bowlegs. My mother had it just not as severe. Two daughters of mine. one with and one not. Would love to talk with others who have this. Very well explained in video.
I have LWD/MD, and this is the first video I have ever seen in my 42 years about my conditions. Bravo!
Willow Gypsy so do I! This is the first time I’ve seen any kind of information like this
Do you know if there or some kind of variation on the persons with the syndrome ?
@@natyreii there is variations with people with LWD. My mothers arms look more deformed than mine. They are shorter and you can most definitely prominent. Mine are also obvious but only when I point it out. My daughter you wouldn’t be able to tell unless you looked at her X-ray. My mom is 5”0, I’m 5’3” and my daughter is 5’4”. None of us have the calf muscle thing they mention and I don’t think any of us have had the high arched palate. My grandmother had scoliosis but the rest of us don’t. My grandma wrists were also more like my daughter’s but she was shorter, more like my mother but I believe she was shorter than my mother.
We also have had different pain levels. I don’t think my grandma ever had pain, my mothers pain started in her mid 40’s after a career as a Hairdresser. She had 3 surgeries to try to correct this but they didn’t work as her soft tissues were too damaged by her 40’s. I started getting pain at 12 when my growth plates fused. My pain would depend on my activity and was like that up to my 30’s. If we moved all the heavy lifting, cleaning, etc would kill my arms for a week then I’d be fine. In my 30’s that changed to constant pain that would get worse when I’d do things. So I had to change my lifestyle, I’m still dealing with pain. Surgeons for me said that my soft tissues were too damaged to try anything but a fusion. They put me on a cast to see if total immobilization would stop the pain, it made my left arm start hurting as I was having to use it more. At that point my pain was centered around only my right arm. So he decided not to operate. My daughter’s arms will hurt with some activity but she knows not to do those things. As I said none of us have scoliosis except my grandma did, but we’ve all had back pain issues. So I’m guessing things look a bit messed up in there lol.
So while all of us were diagnosed with LWD and all have some form of a Madelung wrist deformity, they don’t all look the same. I think this is true for other people with LWD but I’ve not met anyone in RL who has this other than my family. I hope this answers your question 😁
Edit: we also have bowed legs and knee pains but my daughter has had than worse than me
I have this also! Don’t know anyone besides my family who has this. And have never seen a video on it. Most of my drs look at me like I have 2 heads when I tell them what it is. That’s a constant explanation 🙄 gets annoying so i like keeping 1 dr who has already googled it 😂
This video is great. I am in my 60s and have this. Was diagnosed in my teens but it wasnt even called lwd just dyschondreoatis . misspelled. Would love to see a group discussion with others that have this condition. My madelungs is very obvious. Went thru surgery. Did not help. Also am very bowlegged. Two daughters, with one who inherited it. one granddaughter who has it but barely evident. Thanks for posting this.
This vid is highly underrated - thanks a lot!
Wow, I have this!! So do many members of my family.
Me and my mini me both have this. ❤ my kid is the cutest kid in all of Melbourne and everyone wants to adopt her. She is all mine mine mine. Specially created for me.... ❤
I need to know how to get a proper diagnoses. I have a long family line of this.
I also have yhis with absolutely no help from drs. This is the first time i sctually found others with it outside my family. I want to know the affects on our bodies as adults and at 60 with major back issues does anyone have any more info
I haven't been diagnosed with this, but I'm certain I have it. I am 81 now and arthritis has set in and made everything more painful. Used to do charcoal portraits until about 8 years ago but now it is too painful. I have never been treated specifically for LWS/LWD and when I mention it to doctors I only get strange looks from them, nothing more. I would like to find an online support group. There is one for Madelung's Deformity and another one for dwarfism in general, but so far none for LWD.
I also have a lot of back pain and scoliosis
Had badly bowed legs but when I had total knee replacement the surgeon was somehow able to cut the bone at an angle or something and my legs are much less bowed now.
I grew to 4'7" and stopped at age 12, now I am 4'3" tall.