http://livingwithartrogriposis.blog.co.uk/Also known as Arthrogryposis Multiplex Congenita,is a rare congenital disorder that causes multiple joint contractures and is characterized by muscle weakness and fibrosis. It is a non-progressive disease. The disease derives its name from Greek, literally meaning 'curved or hooked joints. Here you will find what living with Arthrogryposis and what comes with it after a few years of living with this disorder. I am making this blog not only to tell you what Arthrogryposis is, but also ro explain what it does to my day today living. what has done to my family. A rare disorder that almost no one knows what it is or what it does. If you are sufering with this disorder and would like some more information please let me know , or if you are interested on understading Arthrogryposis please feel free to get in touch with me. Thank you.en-CAMokoFeed10http://livingwithartrogriposis.blog.co.uk/http://data5.blog.de/design/preview/d4/697f262bfaab4b2733842b1cc92a30_160x200.jpghttp://livingwithartrogriposis.blog.co.uk/2009/10/13/artrogriposis-web-site-in-spanish-7160332/tag:livingwithartrogriposis.blog.co.uk,2009-10-13:/2009/10/13/artrogriposis-web-site-in-spanish-7160332/Tue, 13 Oct 2009 13:47:08 +0200 <p><strong>Hello all my friends i am very happy to announce that one of my blog readers in Argentina has made a blog in Spanish about Artrogriposis and you can check it out at <a href="http://artrogrip.blogspot.com">http://artrogrip.blogspot.com</a> i am sorry i haven't been writing but i have been very ill and in bed rest for almost 30 days now and i am finally up with severe pain but i am up from bed <img src="/img/smilies/icon_lol.gif" alt=":DD" class="middle" border="0"> during this time i was bed bound i can say that most of my friends and family have supported me and i thank them all for that.<br> Also i was very happy when i received an e-mail from Argentina that some studnets were doing recearch on Artrogriposis and found my blog very help full thank you and god bless.<img src="/img/smilies/icon_wave.gif" alt=":wave:" class="middle" border="0"></strong> </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2009/10/13/artrogriposis-web-site-in-spanish-7160332/#comments">Comments</a> </small> </p>httpartrogripblogspotcomhttp://livingwithartrogriposis.blog.co.uk/2009/10/13/artrogriposis-web-site-in-spanish-7160332/#commentshttp://livingwithartrogriposis.blog.co.uk/2009/09/05/went-to-my-gp-6895938/tag:livingwithartrogriposis.blog.co.uk,2009-09-05:/2009/09/05/went-to-my-gp-6895938/Sat, 05 Sep 2009 09:47:06 +0200 <p>Hello again yesterday 04/09/2009 went to my GP because of my bledding trough my back side during the night i went to the toilet like five times wich its very strange being that i only go to once a day and during those five times i went all there was was blood i mean chunks of blood so my wife the next morning called the GP and she asked me to come in you might be asking why didn´t i go to Emergencys well your right i should have gone to emergencys room but everytime i go they keep me in and you know how i am afraid of hospitals so i asked my wife for her not to call an ambulance that i would rather go to to my GP.<br> Once i arrived my GP already new what was causing all this bleading it is one of my medicines called (DICLOFENIC) and told me to stop taking it for a while , she also told me that she wanted me to go and have my blood taken and an exam to my Intestins wich i am very scared to do i did some recearch and it explains that it is unconfurtable but it is quite imprtante for me to do reason being i am taking Morphine some MS pills and some other medicines that i don´t have the names here with me at the moment but i will let you know.<br> Also she wants me to have a chest x-ray to se if everything is ok because i run out of breath some times and i also have been getting very tired lately more than often so this is whats been happening with me since i arrived from my holiday i will keep you updated with my results.</p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2009/09/05/went-to-my-gp-6895938/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2009/09/05/went-to-my-gp-6895938/#commentshttp://livingwithartrogriposis.blog.co.uk/2009/09/05/holiday-in-portugal-6895813/tag:livingwithartrogriposis.blog.co.uk,2009-09-05:/2009/09/05/holiday-in-portugal-6895813/Sat, 05 Sep 2009 09:27:03 +0200 <p>Hello everyone just arrived from my holiday in Portugal i am sorry i took so long to write on my blog to explain on how my holiday was.<br> <img src="/img/smilies/icon_rolleyes.gif" alt=":roll:" class="middle" border="0">Well it was good in some ways , i got to see lot of my family wich i had not seen in years , had great food i love Portuguese food , and the most imprtant things was that my wife and kids were having fun and they liked it a lot, durin the holiday i had a few bad days but tried not to sho it so i wouldn´t ruin it for my family.<br> Took a lot of great pictures of the scenery and went out a lot were it was accecible for me were in Portugal it is hard to find but a few places did remenber to have ramps and toilets but other places not even on sidewalks they had a ramp but o well we had fun.<img src="/img/smilies/icon_razz.gif" alt=":p" class="middle" border="0"> </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2009/09/05/holiday-in-portugal-6895813/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2009/09/05/holiday-in-portugal-6895813/#commentshttp://livingwithartrogriposis.blog.co.uk/2009/08/12/i-am-on-holiday-6707284/tag:livingwithartrogriposis.blog.co.uk,2009-08-12:/2009/08/12/i-am-on-holiday-6707284/Wed, 12 Aug 2009 13:16:16 +0200 <p><img src="/img/smilies/icon_wave.gif" alt=":wave:" class="middle" border="0">Finally i´m on holiday my wife and children have purchased me a holiday in Portugal when they told me the news i was so exited and happy i was finally going to meet my Grandmother , also i was going for the second time the first time i was about 3 years old so i don´t remenber anything about Portugal , i only know what my Mom and Dad told me , from what they have told me Portugal is beutiful.<br> Right know i am writing from Portugal i wanted everyone to know my experience here. First i would like to say that the people at the airport were great , they helped us with everything as soon as we arrived so it was pretty good. Know for the worst problem i faced here in Portugal the side walks are terrible and there is no ramps so i had to ride my powered wheelchair on the road wich i don´t recomend to anyone people here drive like mainiacs i probably sound arx but it is the truth anyway i am here and quite happy to be here , the weather here is wounderfull and the food is great<img src="/img/smilies/icon_smile.gif" alt=":)" class="middle" border="0"><br> Also so the peole here are very nice and kind but some people here make you feel very uncofurtable they look at me as someone who can´t do anything and they feel very sorry for me<br> but that doesn´t bother me very much.<br> Today is my second day here , i only came for 2 weeks due to Doctor appointments and because the hotel i am in is not as accecible as my own home back in England wich i miss a lot.<br> I am sorry that i have not written for quite a long time so i am sorry. I will keep you up to date on my holiday in Portugal.<img src="/img/smilies/icon_wave.gif" alt=":wave:" class="middle" border="0"></p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2009/08/12/i-am-on-holiday-6707284/#comments">Comments</a> </small> </p>holidayhttp://livingwithartrogriposis.blog.co.uk/2009/08/12/i-am-on-holiday-6707284/#commentshttp://livingwithartrogriposis.blog.co.uk/2009/03/24/24-of-march-2009-just-trying-to-get-to-the-next-day-5820452/tag:livingwithartrogriposis.blog.co.uk,2009-03-24:/2009/03/24/24-of-march-2009-just-trying-to-get-to-the-next-day-5820452/Tue, 24 Mar 2009 15:00:50 +0100 <p>24 of March 2009 </p> <p>I am sorry i haven't writen on my blog but two many things happening at the same time.</p> <p>Went into hospital last week due to bledding when going to the bathroom and my belly was about to explode , so i went into the emergency room at Saint Thomas hospital did a couple of tests and found that i had a big infection on my small intestin so they keept me in for 3 days and gave me antibiotics , while in hospital there were 5 people in the same room with me one of them was always trowing up , onother was always farting and had diarria so nurses were always there to clean him up but one of them scared me the most he was about my age and had a belly like a baloon and with a big cut right in between his belly they had removed cancer i felt scared and lonely so after the 3rd day of seeing all of those people in pain and sufering i decided i wanted to get out of there as soon as possible.<br> In the morning of the 3rd day my wife and my career arrived that morning and i told her i want to go home , so we waited for the Doctor to come and see me and i asked im if i could go home and he said i don't recomend you do but if you really want to you will have to sign a release and i told him yes i do want to go home.<br> After i arrived home i went into bed , during that night i cried with alot of pain and you know what ? i couldn't stop thinking of those people that where in the same room with me in pain and sufering and all alone just like i was , being that i came home i did not receive all my tests results that i had done while in hospital so that was another scary thing that was in my mind .</p> <p>Just 3 days ago i received a call from my GP saying that all was ok that i didn't have Cancer thank God and that all i had to do know was to go to hospital has an outpatient to do an Indoscopi to really make sure that nothing else was wrong with me so i am waiting for a appointment so i am waiting for that at the moment .</p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2009/03/24/24-of-march-2009-just-trying-to-get-to-the-next-day-5820452/#comments">Comments</a> </small> </p>healthhttp://livingwithartrogriposis.blog.co.uk/2009/03/24/24-of-march-2009-just-trying-to-get-to-the-next-day-5820452/#commentshttp://livingwithartrogriposis.blog.co.uk/2009/01/19/happy-new-year-to-all-and-thank-you-for-reading-my-blog-5404383/tag:livingwithartrogriposis.blog.co.uk,2009-01-19:/2009/01/19/happy-new-year-to-all-and-thank-you-for-reading-my-blog-5404383/Mon, 19 Jan 2009 10:28:40 +0100 <p>January 19,2009 8:56 AM </p> <p>First i want to wish everyone a Happy New Year and a big thank you to all for reading my blog.</p> <p>Today i am feeling very well and happy to be writing once again on my blog i will be adding new pictures and some more articles that i found on the web hope you like it .<br> I also began a short vedio that i will be adding to this blog once its done wich you will find very helpfull but before i do this let me tell you what happened to me in the past few days that i haven't been able to write on my blog.</p> <p>I recently went into hospital not due to my arthrogryposis but because i was very swollen all over my body i felt and locked like i was going to explode my apetite was gone for a couple of days and i had no clue to what was happening to me so i went in to emergency.<br> Once i arrived on the anbulance they took me to the magor treatment area,and this is the same hospital i been going for years where all my files are. As you may know in the emergency room there are diferent doctors all the time so you basicly have to repeat your problems everytime you sgo into hospital why you might ask ? i really dont't know what i can tell you is that with all this technology all the doctors have to do is to enter your hospital number on the computer and all your files are there but i don't mind but when you are in pain and look like your going to explode the last thing i want to do is talk.<br> After a few minutes of being in the emergency room and all the regular check ups that nurses do a student doctor came to see me and once again i had to repeat my self and explain what was worng with me i told him that i had Osteoathritis,Osteoreumatisim,MS, and then i told him i was born with Arthrogryposis and once the student doctor heard that word (Arthrogryposis) he started to think for a bit and than asked for me to repeat my self and so i did and than he asked what is that but with a strange look on his face thinking that i was crasy because he never heard of Arthrogryposis so i had to explain to him and i also told him about my blog witch he went and read.<br> After a while waiting in pain he came back and told me you have to stay in hospital for a couple of days to see what is causing you this pain and why you look so swollen and i said to him are you sure i have to stay in hospital ? and he said yes.<br> During my stay in hospital i started to think , is it because its Saturday and no Doctors are here to see me??? so the next morning my Specialist came up to the Ward were i was and the first thing i asked him was why did i have to stay in Hospital ? and he answered THE STUDENT DOCTOR WAS SCARED TO TOUCH YOU being that he saw your x-rays that are on file he didn't want to hurt you he said and then i understud why.<br> Going back to why i was so swollen and in pain i had an infection on my Intestin nothing to do with my illness all the student doctor had to do was an Ultrasound and give me some Antibiotics.</p> <p>Just wanted to let you know about this situation so you know what people like me go trough.</p> <p>I will write more very soon with some more information on Arthrogryposis<br> and some new pictures and once the short video that i am currently working on.</p> <p>So see you soon... </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2009/01/19/happy-new-year-to-all-and-thank-you-for-reading-my-blog-5404383/#comments">Comments</a> </small> </p>day-at-the-emergency-roomhttp://livingwithartrogriposis.blog.co.uk/2009/01/19/happy-new-year-to-all-and-thank-you-for-reading-my-blog-5404383/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/12/18/title-5239345/tag:livingwithartrogriposis.blog.co.uk,2008-12-18:/2008/12/18/title-5239345/Thu, 18 Dec 2008 02:48:51 +0100 <p><img src="http://data3.blog.de/media/905/2437905_3170d02907_s.jpg" alt="This is me" vspace="5" hspace="5"><a href="http://www.blog.co.uk/media/photo/me_with_my_dog/3076002" title="Me with my dog"><img src="http://data5.blog.de/media/002/3076002_a1ef584d8d_s.jpg" alt="Me with my dog" vspace="5" hspace="5"></a> </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/12/18/title-5239345/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2008/12/18/title-5239345/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/07/04/hope-you-like-it-4405220/tag:livingwithartrogriposis.blog.co.uk,2008-07-04:/2008/07/04/hope-you-like-it-4405220/Fri, 04 Jul 2008 22:52:25 +0200 <br><a href="http://www.blog.co.uk/media/audio/the_cranberries_ode_to_my_family/2638512">the cranberries - ode to my family</a> </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/07/04/hope-you-like-it-4405220/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2008/07/04/hope-you-like-it-4405220/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/07/04/im-getting-worst-day-by-day-4405167/tag:livingwithartrogriposis.blog.co.uk,2008-07-04:/2008/07/04/im-getting-worst-day-by-day-4405167/Fri, 04 Jul 2008 22:38:57 +0200 <p>22:34 4th of July just wanted to post why i haven't writen on my blog i hve been bed bound for nearly 3 weeks do to a athritis infection i feel very poorly and almost want to give up<br> my family is always with me that is what makes me live.<br> Hopefully ill get better soon only God knows what im going trough at this moment lets see what happens. </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/07/04/im-getting-worst-day-by-day-4405167/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2008/07/04/im-getting-worst-day-by-day-4405167/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/05/19/my-32-birthday-4195450/tag:livingwithartrogriposis.blog.co.uk,2008-05-19:/2008/05/19/my-32-birthday-4195450/Mon, 19 May 2008 20:51:17 +0200 <p>To all my friends and family here i am writing in my blog <img src="/img/smilies/icon_rolleyes.gif" alt=":roll:" class="middle" border="0"> my birthday i turned 32 on May 12 2008 everything was planed by my beutiful wife and my 2 children they were going to make me a birthday suprise party , it was suposed to be beutiful and everyone was loking foward to giving me a beutiful birthday party. <img src="/img/smilies/grayyes.gif" alt=":yes:" class="middle" border="0"><br> Well i failed once again , a day before my birthday i had a big fall and really hurt my self<br> really bad<img src="/img/smilies/icon_sad.gif" alt=":(" class="middle" border="0"> when i fell i tought i was going to die maybe i should have...<br> My wife and kids loking at me on the floor and there i was in pain ... my wife tried to pick me up but she was so scared that i had broken something she lost all her strenght finally after a while she did it she put into my chair and took me to bed were she checked if i had broken anything fortunally i had no broken bones thank god...<br> That night i had no other pain other than the regular me and the wife tought it was all a scare well we tought wrong .<img src="/img/smilies/icon_confused.gif" alt=":-/" class="middle" border="0"><br> The next morning i opened my eyes and i couldnt move move at all i wa in severe pain all trough my body but mostly in my belly. I did not tell anyone i thought it would go away , when my wife came in the room she knew something was wrong but didn't say anything to me neither did i she is used to seing me like this so she tells me HAPPY BIRTHDAY BABY and i replyed thank you honey then my children said HAPPY BRITHDAY DADDY , i started to cry i was in extreme pain <img src="/img/smilies/icon_confused.gif" alt=":-/" class="middle" border="0"> they knew that daddy was hurt.<br> My birthday was ruined , i couldn't get up , move or anything , so i had my birthday cake with my wife and kids in bed.</p> <p>Today 19th of May 2008 i got up bed , im still in lots of pain and also swollen so im going to Hospital tomorrow.<br> This has been a bad week still i don't know if i have broken anything because i to stubern and scared to go into hospital. I have no choice i have to go i thought i would let you know also it is good for me to talk (write) about this i will keep you informed.</p> <p>LOTS OF LOVE WITH ALL MY HEART TO EVER IS READING , MY WIFE , AND MY BEUTIFUL CHILDREN... </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/05/19/my-32-birthday-4195450/#comments">Comments</a> </small> </p>my-birthdayhttp://livingwithartrogriposis.blog.co.uk/2008/05/19/my-32-birthday-4195450/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/04/01/the-beginning-of-my-life-story-3979251/tag:livingwithartrogriposis.blog.co.uk,2008-04-01:/2008/04/01/the-beginning-of-my-life-story-3979251/Tue, 01 Apr 2008 08:26:25 +0200 <p><u><strong>The beginning of my life story</strong></u></p> <p>Before i begin telling you all about my life i would like to say to all my blog readers to be patient with me because i do get tired very easely and i feel disconfort thank you to all.<br> <br> <strong><u>Birth</p> <p></u>I Jorge Pereira born at 1:30 P.M  May 1976 in Germany both parents Portuguese mid class very hard working people ,  for my MOM and DAD this day was to be there appiest day of there life being that them both were going to have another baby,<br> not aware of any problems doctors always told my parents they were going to have a healty child.<br> My MOM and my DAD had lost already 3 babies and were worried , 2 boys and 1 girl the 2 baby boys my (brothers) both died at birth and the baby girl my (sister) died after 4 months with a rare condition in her stomach , my MOM and DAD up till today they cry and cry thinking why there doughter had to die my (sister) Isabel de Jesus Pereira was berried in a cemetary in Portugal near our city Viseu.<br> After one year my MOM got pregnant again still thinking of my baby sister my MOM and DAD were very sceard and very worried with being pregnant but all doctors said to them that everything was going to be ok.<br> 7 months passed on September 1976 my mom add a bad fall going down the stairs  she went straight to hospital my MOM was badly injured but Doctors said everything was fine that the fall did not affect me .<br> 1 week later my mom started to bleed and went into shock then doctors told my dad that he had to choose between me or my MOM at that time my DAD went into a Cronic dipression he did not no what to do he wanted both of us to live being that this was the last chance to ever hold is son in is arms.<br> My DAD was given 24 hours to choose in his car outside the hospital were my mom and i were fighting for our life , at 7:30 AM<br> he was given the best news of is life both me and my mom were going to make it .<br> At 9:12AM my MOM went in to labour after 4 hours of pain i was born , something was wrong i didn't look right Doctors told my MOM and DAD that some thing was wrong but they did not no what it was.<br> After a few hours of life my MOM was told that i was born with <u>Artrogriposis</u> my parents were told i would never walk or sit again.</p> <p>(to be continued)</strong> </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/04/01/the-beginning-of-my-life-story-3979251/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2008/04/01/the-beginning-of-my-life-story-3979251/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/03/29/living-and-overcoming-life-with-a-disabi-3962185/tag:livingwithartrogriposis.blog.co.uk,2008-03-29:/2008/03/29/living-and-overcoming-life-with-a-disabi-3962185/Sat, 29 Mar 2008 13:18:06 +0100 <p><span>Living and overcoming life with a disability</span>  this is another YOU TUBE vedio<br>and it is a very nice story that Marty did.<br><strong>Thank you.</strong> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/03/29/living-and-overcoming-life-with-a-disabi-3962185/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2008/03/29/living-and-overcoming-life-with-a-disabi-3962185/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/03/29/distal-arthrogryposis-3961992/tag:livingwithartrogriposis.blog.co.uk,2008-03-29:/2008/03/29/distal-arthrogryposis-3961992/Sat, 29 Mar 2008 12:29:14 +0100 <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/7B.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/7B.jpg" title="Athrogryposis_Cuillier/7B.jpg"><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/3D.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/3D.jpg" title="Athrogryposis_Cuillier"><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/2C.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/2C.jpg" title="Thefetus"><strong>Distal arthrogryposis</strong></p> <p>uk.wrs.yahoo.com/_ylt=AntuiEwZ.qRowEeVXPzgzsxWBQx./SIG=12lvg3vcd/**http%</p> <p><strong>Case report</strong></p> <p>This is a 16-year-old woman (G1P0), referred to our antenatal unit at 24th week for skeletal anomalies. Her medical history was unremarkable. Our ultrasound investigation revealed:<br> Intrauterine growth retardation with normal amniotic fluid volume<br> Abnormal fetal profile with micrognathia<br> Abnormal position of hands with possible syndactyly of the third and fourth fingers of the left hand<br> Clubbed feet<br> Generalized fetal akinesia with fixed position of several joints<br> The serological tests were negative (TORCH and Chikungunya infections) an the karyotype was also normal (46, XX). The anomalies were consistent with the distal arthrogryposis multiplex congenita. The parents opted for termination of the pregnancy. Postmortem radiography showed the hyper-flexed multiple contractures of the joints of the upper and lower extremities. The elbows were in fixed flexion. The parents refused autopsy.<br> Images 1 and 2: Image 1 - 3D sonography at 24th week of pregnancy showing abnormal fetal profile with micrognathia; Image 2 - 2D gray scale scan showing fetal hand with suspected syndactyly of the third and fourth finger.</p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/1B.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/1B.jpg" title="Abnormality at birth"></p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/2A.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/2A.jpg" title="Birh abnormality"></p> <p>Images 3 and 4: Image 3 - 2D gray scale scan showing fetal hand with suspected syndactyly of the third and fourth finger; Image 4 - 3D sonography showing the same hand as image 3 with suspected syndactyly of the third and fourth finger.</p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/2B.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/2B.jpg" title="Fetus1"></p> <p>Images 5 and 6: Image 5 - 2D gray scale image showing abnormally flexed fetal hand; Image 6 - 2D gray scale image showing abnormal position of the left and right fetal hand.</p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/2D.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/2D.jpg" title="Thefetus2"></p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/3A.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/3A.jpg" title="The fetus 3"></p> <p>Images 7 and 8: 2D gray scale images showing flexed left knee and clubbed foot.</p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/3C.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/3C.jpg" title="Left knee"></p> <p>Images 9 and 10: 2D gray scale images showing clubbed feet.</p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/5D.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/5D.jpg" title="Athrogryposis_Cuillier/5D.jpg"></p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/6A.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/6A.jpg" title="Athrogryposis_Cuillier/6A.jpg"></p> <p>Images 11 and 12: Postmortem images of the hands kept in flexed position</p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/7A.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/7A.jpg" title="Athrogryposis_Cuillier/7A.jpg"></p> <p>Images 13 and 14: Postmortem images of the clubbed feet</p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/7C.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/7C.jpg" title="Athrogryposis_Cuillier/7C.jpg"></p> <p>Images 15 and 16: Postmortem radiograms.</p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/8B.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/8B.jpg" title="Athrogryposis_Cuillier/8B.jpg"></p> <p><img src="http://www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/8A.jpg" alt="www.thefetus.net/images/images2007/Skeletal/Athrogryposis_Cuillier/8A.jpg" title="Athrogryposis_Cuillier/8A.jpg"></p> <p><strong>With Arthrogryposis other problems and complication acure.</strong> </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/03/29/distal-arthrogryposis-3961992/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2008/03/29/distal-arthrogryposis-3961992/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/03/29/congenital-dislocation-of-the-hip-cdh-3961477/tag:livingwithartrogriposis.blog.co.uk,2008-03-29:/2008/03/29/congenital-dislocation-of-the-hip-cdh-3961477/Sat, 29 Mar 2008 10:41:08 +0100 <p> <img src="http://embryology.med.unsw.edu.au/Notes/images/skmus/CDH.jpg" alt="embryology.med.unsw.edu.au/Notes/images/skmus/CDH.jpg" title="C.D.H"></p> <p>Introduction (Instability: 1:60 at birth; 1:240 at 1 wk: Dislocation untreated; 1:700).</p> <p>(a) There is originally a congenital instability of the hip which later dislocates by muscle pulls or gravity if untreated.</p> <p>(b) There is familial predisposition for this problem and female predominance.</p> <p>(c) Growth of the femoral head, acetabulum and innominate bone are delayed until the femoral head fits firmly into the acetabulum.</p> <p>Mechanisms of Production</p> <p>(a) There is familial displasia of the hip. </p> <p>(b) There is a relationship between placental transmission of material joint softening hormones (e.g. Relaxin) which are inhibited by androgens in the male foetus. When a and b are present there is instability of the hip.</p> <p>(c) Dislocation is produced by the small head slipping out of the shallow acetabulum in the extended position of the hip and is inhibited by the abducted position of the hip.</p> <p>Treatment</p> <p>Treatment must be instituted early to avoid a growth deformity of the hip. To ensure there is no instability, infants are tested at birth for hip stability and unstable hip children are nursed in the Frog Position (abducted hip posture).</p> <p>Delay in treatment leads to frank dislocation of the hip (the femoral head comes out of joint), and there is a shallow acetabulum and a small femoral head. See Photo CDH3. If this condition is allowed to occur an operation may be necessary to produce a more horizontal roof to the acetabulum and produce hip stability. See Photo CDH4.</p> <p>Posterior dislocation of the hip produces flexion deformities of the hip with compensatory Lordosis - exaggerated lumbar curvature. See Photo CDH5 (both female).</p> <p>Questions:</p> <p>1. In CDH5 the smaller child on the right shows Trendelenberg's Sign - as she raises her right foot the right side of the pelvis lowers instead of raising. In the normal patient the hip rises when the ipsilateral foot is raised from the ground. What muscle is chiefly responsible for the normal tilting of the hip?</p> <p>2. What conditions may give rise to Trendelenberg's Sign?</p> <p><strong>Scoliosis</strong></p> <p><img src="http://embryology.med.unsw.edu.au/Notes/images/skmus/scoliosis.jpg" alt="embryology.med.unsw.edu.au/Notes/images/skmus/scoliosis.jpg" title="SCOLIOSIS"></p> <p>This is involved with assymetric growth impairment of the vertebral bodies. </p> <p>There is lateral deviation of the spine with a 3-fold deformity: </p> <p>Lateral flexion<br> Forward flexion<br> Rotation of the vertebral column on the long axis </p> <p><img src="http://embryology.med.unsw.edu.au/Notes/images/skmus/scoliosisxray.jpg" alt="embryology.med.unsw.edu.au/Notes/images/skmus/scoliosisxray.jpg" title="X-RAY OF SPINE"></p> <p>The deformity is compensated by movement of the vertebral column above and below the affected region producing a primary and two secondary curves. This deformity progresses rapidly in adolescence and becomes fixed once bone growth is completed</p> <p><strong>Muscular Dystrophies</strong></p> <p>There are several different types of Muscular Dystrophies (wasting) including: Duchenne Muscular Dystrophy, Autosomal Recessive Muscular Dystrophy, Congenital Muscular Dystrophy and Myotonic Dystrophy. </p> <p>Duchenne Muscular Dystrophy</p> <p>The most common occuring in Boys and in Duchenne Muscular Dystrophy (DMD). This cause of the disease was discovered in 1988 as a mutation in dystrophin, a protein that lies under the muscle fiber membrane and maintains the cell's integrity. As skeletal muscles have little prenatal load or use it is not until postnatally that muscle wasting occurs, usually in the anti-gravity muscles first. This is a progressive disease usually detected between 3-5 years old.</p> <p>There is a milder adult (30-40 years old) onset form of the disease Becker's Muscular Dystrophy (BMD) that involves mutations in the same gene</p> <p><strong>Congenital Muscular Dystrophy</strong><br> Mutations in the laminin alpha-2 chain (LAMA2, merosin) gene lead to a deficiency of this protein. </p> <p>Laminin is an extracellular matrix glycoprotein expressed in basement membranes. The laminin alpha-2 chain is specifically found in basement membranes of striated muscle and Schwann cells.</p> <p><strong>Autosomal Recessive Muscular Dystrophy</strong></p> <p>Dystroglycan, a protein that associates with both dystrophin and membrane molecules, is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. A knockout mouse has been generated that has early developmental abnormalities.</p> <p><strong>Myotonic Dystrophy</strong></p> <p>An inherited disorder in which the muscles contract but have decreasing power to relax. With this condition, the muscles also become weak and waste away. The myotonic dystrophy gene, found on chromosome 19, codes for a protein kinase that is found in skeletal muscle, where it likely plays a regulatory role. The disease is "amplified" through generations probably by a similar GC expansion associated with Huntington disease.</p> <p><strong>Arthrogryposis</strong><br> (Multiplex Congenita)</p> <p>A rare disease. Severe cases are characterised by multiple deformities at birth with gross stiffening of joints and hypotonia or wasting of muscles.</p> <p><img src="http://embryology.med.unsw.edu.au/Notes/images/skmus/arthrogryposis.jpg" alt="embryology.med.unsw.edu.au/Notes/images/skmus/arthrogryposis.jpg" title="ARTHOGRIPOSIS"></p> <p>Such a stiff fetus frequently sustains fractures before or during delivery, this newborn has had a fractured right humerus.</p> <p>Photo AG2 shows deformities originally thought to be joints, then joints and muscles then finally innervation was also implicated. </p> <p>Photo AG3 shows normal and abnormal muscles in close proximity. Variations in the degree of severity of joint deformity are expressions of varying degrees of muscular and neurological abnormality.</p> <p><strong>Limb Abnormalities</strong></p> <p><strong>Congenital Limb Reduction</strong></p> <p><img src="http://embryology.med.unsw.edu.au/Notes/images/skmus/clr.jpg" alt="embryology.med.unsw.edu.au/Notes/images/skmus/clr.jpg" title="CONGENITAL LIMB"></p> <p>Thalilomide was the most celebrated limb reducing insult (teratogen) in humans which also produced a range of other deformities depending on developmental time and concentration of the drug exposure. </p> <p>Agents - Many substances have been found capable of producing limb reduction defects in experimental animals but few have been related to humans. </p> <p>Mechanisms - Limb reduction defects may also be indirect, for example with loss of blood supply to part of the limb or to defects in innervation at the spinal or cerebral level. Also there are a number of as yet undefined mechanisms involved.</p> <p>Limb reduction defects may be apical (congenital amputation) or pre- or post-axial (absence of radius and lateral digits; ulnar and medial digits).</p> <p><strong>Finger and Toe Defects</strong></p> <p><img src="http://embryology.med.unsw.edu.au/Notes/images/skmus/syndactylysm.jpg" alt="embryology.med.unsw.edu.au/Notes/images/skmus/syndactylysm.jpg" title="FINGER AND TOE DEFFECTS"></p> <p>Fusion of fingers or toes which may be single or multiple and may affect: skin only, skin and soft tissues or skin, soft tissues and bone.</p> <p>The condition is unimportant in toes but disabling in fingers and requires operative separation and is frequently inherited as an autosomal dominant.</p> <p>The presence of this additional "webbing" reflects preservation of the developmental tissues that in normal development are removed by programmed cell death (apotosis). </p> <p><img src="http://embryology.med.unsw.edu.au/Notes/images/skmus/Polydactylia.jpg" alt="embryology.med.unsw.edu.au/Notes/images/skmus/Polydactylia.jpg" title="TOE DIFORMALITY"></p> <p>Presence of additional toes or fingers also called polydactylia or polydactylism. The condition is often treated surgically in the infant.</p> <p>Ernest Hemingway in the 1930's had a six-toed cat (Snowball) showing a form of polydactyly and cats with a similar condition are now called "Hemingway cats".</p> <p><strong>Polysyndactyly</strong></p> <p>Developmental abnormality where there is a combination of polydactyly with syndactyly is known as polysyndactyly.</p> <p><strong>Triphalangeal Thumb (TPT)</strong></p> <p>Developmental abnormality with three phalanges instead of two, forming a long, finger-like thumb. Usually inherited as an autosomal dominant trait, gene locus chromosome region 7q36.</p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/03/29/congenital-dislocation-of-the-hip-cdh-3961477/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2008/03/29/congenital-dislocation-of-the-hip-cdh-3961477/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/03/29/introduction-3961197/tag:livingwithartrogriposis.blog.co.uk,2008-03-29:/2008/03/29/introduction-3961197/Sat, 29 Mar 2008 10:00:59 +0100 <p><img src="http://embryology.med.unsw.edu.au/Defect/images/pie_skmus.gif" alt="embryology.med.unsw.edu.au/Defect/images/pie_skmus.gif" title="graph">Introduction<br> There are a large number of different musculoskeletal abnormalities affecting one or a combination of bone and muscle development in the skull, trunk and limbs. This page therefore can only broadly introduce the topic. </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/03/29/introduction-3961197/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2008/03/29/introduction-3961197/#commentshttp://livingwithartrogriposis.blog.co.uk/2008/03/29/arthrogryposis-what-is-it-3960982/tag:livingwithartrogriposis.blog.co.uk,2008-03-29:/2008/03/29/arthrogryposis-what-is-it-3960982/Sat, 29 Mar 2008 09:09:06 +0100 <p><u><strong>Arthrogryposis</strong></u></p> <p>Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that causes multiple joint contractures and is characterized by muscle weakness and fibrosis. It is a non-progressive disease. The disease derives its name from Greek, literally meaning 'curved or hooked joints.<br> There are many known subgroups of AMC, with differing signs, symptoms, causes etc.In some cases, few joints may be affected and the range of motion may be nearly normal. In the most common type of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe types, nearly every joint is involved, including the jaw and back.<br> Frequently, the contractures are accompanied by muscle weakness, which further limits movement. AMC is typically symmetrical and involves all four extremities with some variation.</p> <p><u><strong>Signs and symptoms</strong></u></p> <p>There are numerous symptoms for this group of diseases.Some of the more common signs and symptoms are associated with the shoulder (internal rotation deformity), elbow (extension and pronation deformity), wrist (volar and ulnar deformity), hand (fingers in fixed flexion and thumb-in-palm deformity), hip (flexed, abducted and externally rotated, often dislocated), knee (flexion deformity) and foot (clubfoot deformity).Complications may include scoliosis, lung hypoplasia leading to respiratory problems, growth retardation, midfacial hemangioma, facial and jaw deformities, respiratory problems, and abdominal hernias. Cognition and speech are usually normal.</p> <p><u><strong>Causes</strong></u></p> <p>The cause is unknown, although several mechanisms have been suggested. This includes hyperthermia of the fetus, prenatal virus, fetal vascular compromise, septum of the uterus, decreased amniotic fluid, muscle and connective tissue developmental abnormalities.In general, the causes can be classified into extrinsic and intrinsic factors.</p> <p>Extrinsic<strong><u></u></p> <p>There is insufficient room in the uterus for normal movement. For example, fetal crowding; the mother may lack a normal amount of amniotic fluid or have an abnormally shaped uterus.</p> <p>Intrinsic</strong><u></p> <p> <u>Musculoskeletal/Neuromuscular - Muscles do not develop properly (atrophy). In most cases, the specific cause for muscular atrophy cannot be identified. Suspected causes include muscle diseases (for example, congenital muscular dystrophies), maternal fever during pregnancy, and viruses, which may damage cells that transmit nerve impulses to the muscles.<br> Neurological - Central nervous system and spinal cord are malformed. In these cases, a wide range of other conditions usually accompanies arthrogryposis.<br> Connective Tissue - Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.<br> Research has shown that anything that prevents normal joint movement before birth can result in joint contractures. The joint itself may be normal. However, when a joint is not moved for a period of time, extra connective tissue tends to grow around it, fixing it in position. Lack of joint movement also means that tendons connecting to the joint are not stretched to their normal length; short tendons, in turn, make normal joint movement difficult. (This same kind of problem can develop after birth in joints that are immobilized for long periods of time in casts.<br> The principal cause of AMC is believed to be decreased fetal movements (akinesia) caused by maternal or fetal abnormalities. It is associated with neurogenic and myopathic disorders. It is believed that the neuropathic form of AMC involves a deterioration in the anterior horn cell leading to muscle weakness and fibrosis.<br> In most cases, arthrogryposis is not a genetic condition and does not occur more than once in a family. In about 30% of the cases, a genetic cause can be identified. The risk of recurrence for these cases varies with the type of genetic disorder.There is a rare autosomal recessive form of the disease known to exist.</p> <p></u>Diagnosis<strong></strong></u></p> <p>To date, no prenatal diagnostic tools are available to test for the condition. Diagnosis is only used to rule out other causes. This is done by undertaking muscle biopsies, blood tests and general clinical findings rule out other disorders and provides evidence for AMC.</p> <p>Treatment there is no cure, symptoms and deformities may still be alleviated with various methods due to multiple contractures and weakness. Physical therapy intervention including stretching (may include casting and splinting program of affected joints), strengthening, mobility training, are undertaken to improve flexion and range of motion. Occupational therapy interventions can include training in ADL and fine motor skills as well as addressing psychosocial and emotional implications of a chronic condition. Since there is a variety of different deformities, individually tailored orthopaedic correction is needed. Orthopedic surgery is usually needed to correct severely affected joints and limbs and symptoms such as clubfoot, hernia repair and correction if unilateral hip dislocation occurs. The disease is very rare but most cases envolve dislocating of the shoulders. This can be done manually with no pain but by doing this it wears away the ball inside the bone tissue. By doing this it could lead to severe artheritus and eventually amputation. The operation is a very difficult procedure for the shoulder joint. The surgeon will carefully make an insition in the chest, to get at the rib cage, and then will drill a hole through the armpit and through the shoulder. Then a metal bar will be carefully placed through the shoulder and bolted tightly at the top. The bottom will be clamped to the rib cage and will be tightly shut to stop mobility. This is a very painful procedure. The surgeon will then stitch up any open wounds and clean any cuts that may get infected. The bars will be visible so holes are necessary in the clothing to prevent any discomfort. These bars will be on for 5 to 6 years.</p> <p>Prognosis<strong></p> <p>Individuals with AMC require vigorous therapy and surgical intervention. This however depends on severity.Since AMC is not a progressive disorder though, there are also positive factors as well including normal cognition and speech and a potential for functional mobility leading to a productive and independent lifestyle, adapting to specific situations as required by the individuals particular symptom. The operation can cosist in many different ways for different joints for e.g. if it is in the shoulder then they can be pinned to the ribs to prevent mobility.</p> <p><strong><u>Epidemiology</u></strong></p> <p>AMC is relatively rare occurring in 1 out of every 3,000 live births.Amyoplasia, characterized by fatty and fibrous tissue replacement of the limb muscles, is the most common form, at 43% of reported cases.The majority of affected individuals survive but a minority die, usually due to respiratory muscle involvement.</p> <p></strong> </p> <p> <small> <a href="http://livingwithartrogriposis.blog.co.uk/2008/03/29/arthrogryposis-what-is-it-3960982/#comments">Comments</a> </small> </p>http://livingwithartrogriposis.blog.co.uk/2008/03/29/arthrogryposis-what-is-it-3960982/#comments