muscles power are every move but for two incredible men their muscular systems are beyond control one has muscles that Flex when they shouldn't you tell your body to do something but it does something else the other has seen his muscles all but vanish he lost the capability of moving his arms his legs now doctors are sparking the brain to retake take control of the bra I think we're going to keep going up on the voltage join us as we explore the inner workings of our muscles how they can turn against us and what science is doing to get them back in line [Music] Jason Dunn is a study in extraordinary adaptation my name Jason I am 31 and I have distonia D Tonia feels like when you tell your body to do something but it does something else there are about 640 muscles that move the human body Jason estimates Ates that up to 500 of his muscles stay continually flexed twisting his body into unusual positions want to say hi to Jas a and gripping the muscles that control his vocal cords okay you be good is that okay this Tonia feels like the most annoying thing that you can [Music] imagine though Jason's muscles don't behave they are ordinary in structure and function like typical muscles they're made of bundles of muscle fiber each fiber gets command signals from the brain through wirelike nerve cells when a command arrives to take a step each targeted nerve cell releases chemicals onto muscle fibers causing them to contract and when bundles of fibers contract at the same time the whole muscle contracts producing the miracle of body movement the more signals sent from the brain the more the muscle contracts and the bigger the movement but for reasons science doesn't understand Jason's brain is constantly sending faulty commands to his muscles as a result they contract outside his control welcome everybody Welcome to Chicago very little is known about what causes Donia or how to treat it I'm sure that many of you have questions on how it works to learn more about his mysterious condition Jason attends a dystonia conference here he can trade information with other Donia patients and talk to some of the leading experts on the condition hello Jason hi my friend I to love you because Jason can barely speak he communicates with a speech synthesizer for each comment he makes the process can take a minute or more no but now I'm seeing Dr V at CL Clinic oh great so you're seen Jerry Jerry's phenomenal he's a really a great great guy first of all he's a great person and he's obviously one of the major expert although distonia strangles Jason's speech he's not affected intellectually Jason is a typical patient with theonia because you immediately have the impression of a human being trapped in his body nice meeting you but with a very very crisp mind he's clearly very smart [Music] [Applause] ready like it I know I deleted it and want to do it again everyone here makes me feel bad cuz I'm not that bad not as fabulous as Jason I'm gorgeous though it makes up for it right two of [Music] us there are many kinds of dystonia some people get it after a head trauma other times it results from drug poisoning or infections it can also be a disorder all its own called primary dystonia according to Jason's neurologist he probably has this type of Donia there's no other known cause for his Donia that we can tell so I believe he's a primary distonia you ready in a number of ways his dystonia fits the pattern of one type sparked by a genetic mutation called dit one and in did one those patients often times develop theonia early in life and it progresses so often times may start in one body part like the leg or perhaps even the arm and then it spreads to other body parts did one dyone results from a genetic defect inherited from a parent a section of the D one gene is missing the Gene's role is to make a protein found in brain cells but the mutation causes the protein to be defective exactly how this glitch produces dystonia is not yet understood what scientists do understand is that a person needs to get the defective Gene from just one parent to develop d one dystonia but there's a puzzling twist about 70% of the individuals that have the genetic defect don't develop virtually any problem which means that there must be other factors that cause d one dystonia there's t-shirts you want to grab them we need to wear them for the field trip tomorrow so they can identify us at the aquarium Jason has not yet been tested to see if he has the culprit Gene his doctors have their doubts since his condition is more extreme than typical d one distonia we don't know what costed my distonia yo J D what's up my brother good to see you brother what's going on yo what is known about dystonia is that it usually affects just one kind of muscle and Jason like ordinary humans has three kinds cardiac muscle in the walls of the heart is what makes his heartbeat the second kind of muscle smooth muscle lines the walls of other internal organs like the small intestine it often Works to move food or fluids through the body like cardiac muscle it can't be consciously controlled skeletal muscles the third muscle type can be activated intentionally their job is to move and support our skeleton your arms your legs your back hold your posture your neck but then just don't of the primary uh muscles that are involved are the skeletal muscles to flex his arm Jason's bicep muscle is supposed to contract while his tricep muscle relaxes to straighten his arm his tricep should contract while his bicep relaxes skeletal muscles work together in opposing pairs like this to produce movements in opposite directions it takes about 200 of them just to take one walking step you have to have a concert so every muscle plays a role it's like each one's an instrument it's got to play together and it's got to relax or be quiet at one point in time and it's got to be active at another point in time but in Jason opposing muscles contract at the same time contorting his skeleton having muscles that almost constantly contract is one reason why Jason looks so muscular but the reason for the contractions is found in his brain and it Stony it's the Central Command that's the problem not the muscle itself the muscles only do what they're told to do so if you have a bad signal coming in and it's telling your muscles to contract they're going to [Music] contract many scientists think these flawed muscle commands get corrupted in the basil ganglia a group of brain structures that plays a critical role in fine-tuning muscle movements if you look in the basil gangle and we do this sometimes in patients we record with micro electrodes and record the activity of single brain cells in the basil ganglia and that activity is very chaotic instead of producing the typical pattern of impulses brain cells in Jason's basil ganglia fire erratically it's believed that somehow this irregular activity generates faulty commands telling his muscles to contract when they should be relaxing which muscle dystonia effects varies greatly from one person to the next in Jason's case it impacts muscles all over his body clearly Jason has a very disabling form of dystonia he's unable to even maintain a sitting position he has to lie down on the floor like most cases of dystonia Jason's is not life-threatening and it will not get any worse but it does make his daily life a staggering challenge distonia is a in my life in so many ways pretty much everything I [Music] do but back home in Warren Michigan where he's been living on his own for a year he muscles through his day with superhuman determination I don't know how he has patience to do just the littl thing is brushing his teeth or putting on a pair of socks [Music] 31-year-old Jason Dunn is determined not to let his Twisted muscles hold him [Music] back Jason has been living on his own for a year oh the eggs he's temporarily staying with his friend Mike and Mike's daughter Dana while a house specially designed for his condition is being built I managed to do most things by myself it looks worse than it actually is it just takes me a little [Music] longer I don't know how he does it [Music] I you sleep man you sleep good what are you doing ordered breakfast he will ask for help when he needs it and if he doesn't need it he'll tell you there you go and that is his main goal in life is to be as independent as possible [Music] when I see Jason maybe trying to pick up his plate or pick up his food or something I always want to go grab it and help him get it but I know that he doesn't want that want your juice by you you got it okay he wants to do everything on his own doesn't want to use wheelchairs Jason's Donia even affects muscles he uses to chew and swallow which makes eating and drinking a [Music] chore life wasn't always like this for Jason during early childhood he showed no symptoms of dystonia they started to appear when Jason was in first grade the doctors there were many there because it was such a rare thing at the time it seemed like nobody had to answer I was six when was diagnosed I just thought that the distonia would go away it didn't in fact it quickly got worse within months his physique had dramatically changed Jason's Contracting muscles twisted his neck to the left and pulled his arms and hands into unusual positions over the years the muscular pressure on his spine has bent it into a zigzag unless an effective treatment is is found he'll never be able to stand or walk straight the muscles that control his voice box have also locked up which is one of the reasons why Jason's barely able to speak for him to talk muscles in his throat have to pull together his vocal cords then when air from his lungs rushes between these folds they would vibrate to create sound 1 2 3 four 5 the throat muscles should stretch the folds to make higher pitch sounds 1 2 3 4 5 and relax the folds to produce deeper tones 1 2 3 4 five in Jason the constant contraction of these muscles has made the Precision control needed for speech impossible for years ago my distonia moved to my jaw when the muscles in his jaw also started to contract his speech became even more restricted Jason's options for treating his dystonia are limited all the treatment that we have calm the muscles they control the symptoms but they don't cure the disease to ease his muscle involuntary contractions Jason Takes muscle relaxant just like in ordinary humans the electrical signal Jason's brain sends to his muscles travel down transmission lines made of nerve cells as an Impulse reaches the end of a nerve cell the cell releases a neurotransmitter this chemical either triggers another nerve impulse in the next nerve cell down the line or blocks it Jason's medication boosts the activity of the chemical that blocks nerve impulses slowing down those uncontrolled movements the result Jason's muscles get fewer of the flawed instructions to tighten up between 8 to 11 I had to be carried around it was twice as bad as you see now I couldn't move from off the floor come on in hey hello come in ready hey you ready to go to the gym Jason all right have a good workout man I'll talk to you later another way Jason copes with dystonia is by lifting weights though he only weighs 135 lb he can leg press 200 lb 30 times but Jason doesn't lift weights to build muscle hey go work out I'll make you shade when you're done Jason Goes to the gym to Tire his muscles out which helps relieve the constant contractions and now he's pinning his hopes on a new treatment one that implants electrodes in his brain to tame the flawed signals his muscles [Music] receive every waking hour Jason Dunn's muscles are in Revolt but not when he's sleeps when I sleep my body totally relaxes like everyone else when I wake up it takes a few minutes to wake up the distonia to so I feel good when I first wake up doctors don't know why Jason's disorder disappears during sleep and they've had only limited success treating his dystonia with drugs but he's now turned to a Leading Edge procedure involving brain surgery since I have been coming to Cleveland Clinic I have noticed a little difference Jason hey how are you there there's a couple of different brain surgeries for Donia in the past the preferred approach was a technique known as lesioning it involves burning a small hole or lesion to destroy an area of brain cells in the basil ganglia the part of the brain where dystonia is thought to originate this reduces brain activity there which may or may not help relieve the symptoms of dystonia what people used to do was what I call poke and hope poke a hole make the lesion and then hope it was the right location okay yeah okay not much farther going to go right in here this technique sometimes caused permanent damage without improving a patient's dystonia luckily Jason has another option I'm going to take a look at your DBS here and see what it's doing first doctors have begun treating dystonia with a new type of brain surgery far less risky than lesioning it's called deep brain stimulation or DBS surgeons embed electrodes or leads in areas of the basil ganglia with abnormal nerve cell activity the leads come steady pulses of electricity there cells work through electricity you can change activity of cells by changing current so by passing current in that area we're able to change neural activity bottom line it's thought the pulses stabilize the nerve cell activity or at least make it more normal kind of like a pacemaker for the brain you might feel a shock or a tingle down the left arm or the left leg deeper stimulation in these patients can improve them dramatically that's a good sign about the position of this electrode to the point some patients you'd have to look hard to see if they have theonia the leads are hooked up to wires that thread from the skull behind the ear and down the neck to a battery powered pulse generator implanted below the collar bone hey buddy a different surgeon inserted Jason's DBS unit several years ago but Jason is now relying on Dr Gerald VC a leading expert in the field to find the best settings for the pulses I see Dr Vick about once a month he is trying to find the right settings for my DBS since I've seeing him if you notice any change in the right arm I feel about 5% to 10% better do it's not a lot but it's something Jason has improved a lot less than I would expect 5 to 10% is not at all what we're looking for we're looking to see him come up more to 50% or better you still got a lot of involuntary movements here and on the other side the leg and the arm and the neck that we'd like to be able to get control of that for unknown reasons the effects of DBS on Donia are not seen for days weeks or months neck and right foot this could be why Jason hasn't shown much improvement or it might be the settings themselves Jason do this for me can you open and close hand at all okay can you bend your arm back and forth okay can you go up like this the process of adjusting DBS is a bit like searching for stations on a car radio some frequencies give you nothing did you feel anything when I did that other frequencies give you a fuzzy signal okay still others bring in a clear signal although some sometimes with DBS there just is no clear signal all right so it looked like there might be a problem so I have to do the check at a higher voltage we've been exploring different parameters of stimulation for Json over the last year or so we're going to drop the pulse width a little bit okay and then keep going keep going up on the voltage yeah cuz we have two contacts on there so we're going to gradually increase the voltage on both we have tried a number of combinations I think we found a set now that we think might work and we're gradually increasing the voltage in him to see if that will give him the benefit we need if the pulse settings are wrong boosting the voltage can stimulate the wrong nerve structures producing side effects Jason's optic nerve might be activated causing him to see flashes or an area of the brain called the internal capsule could be stimulated causing muscles to start Contracting we'll just walk out and walk back Jason Jason has felt these negative side effects with previous settings but they vanished after adjustments just walked about 5 ft Jason what the doctor is more concerned about now is the position of the leads hey budy let's go back in and I don't know where the lead locations are exactly with him and and have we not put them in I'm not too sure uh if we're if we've got exactly the right location I think we're going to keep going up on the voltage with these settings until we get continual benefit but if we don't think we can get high enough because we're getting side effects we may have to think about repositioning the lead moving the leads will mean another brain surgery oh boy huh can't wait right you know man we don't give up right we're in it with you for the long haul all right cool cool you got it one last look at your place in the meantime Jason is going on with his life his house will be demolished next week and work will start on a new home more adapted to his Donia Jay here you go we've been able to raise almost $100,000 between people donating material and skilled labor and and cash donations over here you're going to have the walkin shower and you won't have to put your try to climb over that tub in there you'll be able to walk right in and maybe they'll put a bench seat in there for you I couldn't wait to get started we just can't wait for it to get [Music] finished but Jason's dreams don't end there did you get a chance to see the Lions they lost yesterday you oh they won Jason believes 100% that he's going to be cured my biggest concern about Estonia is if they find a cure when I'm madebe thanks a [Music] lot you know the thought of Jason walking and talking like you or I just gives me goosebumps and I think it will happen one day I just hope he's around for it to happen we're not so funny anymore are we my plans for the future don't involve Bonia just it's Battle Scars I just want a normal life M Jason's dream just might come true but science is still at a loss when it comes to treating another amazing muscular disorder this one causes muscles to vanish turning some people into what looks like like Life-Size dolls I need an EMT and a possible Evac right [Applause] away cheers today is Amy and KT's 41st birthday at least 41 more though his body appears lifeless Ami is very much alive and his spirit is infectious you're getting close to 50 41 not you know the first time the first time I saw he doesn't see himself as a disabled person and uh nobody in this group of friends treat him like he has any kind of disability on the motorcycle even I took him on the motorcycle I took him in the boat I took him on the whatever he can he want to try hiy amyan ktz has a genetic disorder known as spinal muscular atrophy type 2 or SMA 2 so Amy the next 41 years what are your plans the incurable condition starts in infancy and causes a progressive loss of muscle tissue it affects one in every 6 to 10,000 infants sma2 doesn't affect the muscles directly it's actually a disorder of the nerves that trigger muscle movement these nerves are made up of specialized nerve cells the nerve cells originate inside the spinal cord or brain stem they each have a long wire-like tail called an axon that can stretch up to 3 ft long this axon carries electrical signals to the various muscle cells in our body making them contract Ami's condition causes these nerve cells to die [Music] as a result his muscles no longer receive his brain's commands to move so they don't contract and muscles that never contract atrophy that is they wither away we all get muscular atrophy when we are physically inactive clay Anderson St long exposure to weightlessness like on space flights also causes it go ahead St here in zero gravity our muscles don't have to work to support us that causes them to dwindle muscle atrophy from lack of use can be reversed through exercise unfortunately since the nerve cells that activate most of Ami's muscles are dying his atrophy is permanent and extreme even the muscles he uses to speak are disappearing he can't move his Jaws he almost cannot move or close or open his mouth or his lips therefore his speeches very slurred and very difficult to understand at this stage and while in the average adult male muscle makes up 42% of body weight Ami's muscle tissue is almost completely gone that's why he weighs an astonishing 39 lb with no strength in his arms legs neck and torso his body is limp in public he actually gets mistaken for a life-size doll Amy has no control of any voluntary muscle whatsoever except for little facial muscles that he uses for his very poor speech and a very little left function of muscles for swallowing but typical of those with spinal muscular atrophy Ami has full control of his mind his brain is fine and his understanding is excellent and he's a sensitive guy army is all the time just thinking forward what what we going to do next how we going to figure this this problem and it's not good for me like this we need to do it better like this and all the time just thinking forward it's likely this incredible zest for life has kept him going for so long despite a dire prognosis you look good at me huh I like the way you cut your hair who cut it for you over the age six SMA 2 weakens the muscles needed for breathing eventually making it impossible to take in enough oxygen respiratory infection is one of the leading causes of death in Ami type of SMA the more severe the condition the earlier it happens I'm on the on the life parts we can see very very rarely a case like Amy that continues to be able to survive to the age that he reached today sma2 impacts the skeletal muscles which are mainly used to move our body the muscles in the heart and other internal organs are unaffected because they're activated by a different kind of nerve cell than the type that stimulates skeletal muscles so inside Ami's motionless body his heartbeat strong his digestive system churns away and his other internal organs do their jobs and he's able to survive even though he's virtually incapable of movement while his physique today is highly unusual Amy's mother Elena says he was a typical baby I me he was normal and normal he can move the hands the the head and everything but after about 6 months Elena began to notice that something was wrong when I put it Amy in the crib to sit him he falling down at the age of one Amy received his diagnosis his extraordinary condition stems from a mutation in one of his genes normally this Gene carries the blueprint for creating a protein that nourishes the nerves that trigger skeletal muscles but because of the mutation the gene couldn't produce the critical protein this caused the nerves to start dying shortly after he was born but Elena wasn't about to give up on Amy when I take Amy to the doctor and he told me am is not going to live still six I say no you are not a God to tell the mother her son is not going to live and am is going to live and I show you am is going to live Ami did live but by the time he was 20 he'd lost almost all voluntary movement still he had beaten the doctor's prediction the combination of his tremendous desire to leave and extraordinary care that he has received from his mother he has made it up to this date driven by his passion for living Ami has managed to travel the world from the US to Romania and now this Man without the muscle to even move a finger is planning his riskiest Adventure yet white Island culture culture okay well he constantly asks for my approval to take a trip to Thailand on a wheelchair lying down in a fetal position okay [Music] she's coming yeah you want me to to tell to send her something uh she said that she want to be in three half although Amy and kowts has all his wits about him he's imprisoned inside a body that he cannot move this hasn't stopped him from Living on his own in a house outside of Tel Aviv Israel Amy has decided several years back that he wants to move out from his mother's house and live independently he did it like he's done so many other things in his life in spite of the opinion of the entire world around [Music] him in the end even with his Spirit of Steel Amy needs lots of help from friends family and his [Music] caretaker I [Music] know that's am I mean you you told everyone to come in a six right oh yeah in recent years Amy has lost the muscle power required to swallow you need to eat food he needs muscles to force his tongue against the roof of his mouth or pallet pushing food toward his throat he needs other muscles to lift up the back part of the pallet to close off his nasal cavity throat muscles are required to close his voice box so food stays out of his Airway and to open his esophagus the tube to the stomach then he needs muscles lining his esophagus to make contractions that pushes food downward but most of these muscles have wasted away if Amy were to swallow almost any kind of food he would choke he was losing weight because he cannot swallow except very small quantities of thin [Music] liquids so doctors inserted a feeding tube into his stomach basically 99% of his food and liquid intake okay is through that tube directly to the stomach [Music] like many people with SMA as Amy's muscles disappeared his spine has bowed in order for it to be a sturdy pillar holding his body upright he needs skeletal muscles in the back sides buttocks and abdomen these normally provide a support for the spine but his withered away and the resulting pressure on his spine made it Bend so much that his ribs started pushing against his heart and lungs and then we decided that he has to go through surgery of the spine to get his column stabilized so he doesn't Bend further and further surgeons put metal rods in Amy's spine and straightened it but his gradual loss of skeletal muscles continued for unknown reasons with his type of muscular atrophy muscles closer to the trunk usually dwindle sooner than those farther away the legs are affected before the arms and often the last muscles impacted are those that move the face the eyes and the fingers by the time Amy was an adult the only body part below the neck he could move was one finger on his left hand but the man who wasn't supposed to live past age six was not about to give up his dreams at age 30 he learned to create computer animation with just his one working finger once he decides he wants to do something he goes ahead and does it okay he has a desire and a passion to live that drives him and has kept him alive up to today for 10 years Amy pursued a successful career as an animator but the Relentless muscle loss eventually made it impossible to work Amy lost very slowly but instead the capacity to use the one or two fingers that he was using previously so he hasn't been able to use the computer for the last year but Amy hopes to keep alluding his body's prison by taking off in pursuit of his other passions like traveling so far he's taken trips to six countries with his closest friends enemy comes Amy always has a travel Adventure on his mind in his 30s Amy made an epic road trip across the United States in an RV they call it a hammer it took a lot of energy from everybody but we did it because Amy drived us made us to do it but the Journey Only underscored how fragile his body is at one point he suffered serious breathing problems I need an EMT and a and a possible he back right away to properly inhale his lungs need the diaphragm muscle to contract and flatten at the same time muscles between the ribs should also contract raising the ribs upward and outward these two actions enlarge the chest cavity making the lungs expand and suck in air but Ami has all but lost his rib cage muscles and he now breathes with only his diaphragm The Fallout is that his lungs don't fully inflate little by little he lost the capability to breathe normally to use the muscles to help him to take deep breaths for instance he's not capable of despite the physical challenges of travel Amy has his heart set on an even more daring trip is since I was 18 years old so what the what the plans how how going to do it all I mean just to take a flight to Thailand like uh like regular army is not standing still all the time ideal and uh all the time forward Army is a shark why things you say die for to die for the first chance I have I do it Amy's mother and some of his friends think the idea is reckless the flight is I think 12 hours also from Israel and in his condition it's like a huge tusla but I assume that if Amy insist he will find a way to do it Amy but Amy's physician may not approve and his mother insists on getting the doctor's opinion before she lets her son take off once again but every day talk about Thailand every [Applause] day Amy and ktz is fixated on going to Thailand every time when I come to see him I see that he able to do less and less thing a big fear is that a Thailand trip might lead to a lung infection since his rib cage muscles have withered away he only breathes with his diaphragm as a result the air doesn't move in and out of his lungs with as much force as it should this means that when he gets a cold his Airways clog up which can breed severe lung infections when he has a vus it's very dangerous for him because uh he can go to pneumonia immediately spinal muscular atrophy has also caused Ami to lose muscles needed for coughing and coughing is one of the things that protects him against lung infections when his cough receptors detect mucus from a cold they should spark the muscular reaction we call a cough the diaphragm and outer rib cage muscles instantly contract making the lungs balloon meanwhile throat muscles close the voice box so no air escapes next the diaphragm and outer rib cage muscles relax while the inner rib cage muscles contract this boosts air pressure in the lungs then the throat muscles relax letting the voice box spring open and air is pushed out at over 600 mph clearing the [Music] Airways since Ami has lost most of these muscles he cannot cough to scrub his Airways of mucous secretions if he cannot handle his secretions because of the lack of cough capability he is prone to respiratory infections in the [Music] lungs Amy's mother has insisted that he see his doctor today hello Shalom uh she wants to know the state of his breathing muscles and get an opinion on whether or not he should travel to Thailand Amy hi how are you hi come in yeah welcome iy wants to go to Thailand what do you think about it this trip we've been through this discussion before I mean every day he talk about Thailand every day he likes so much to go over there uh I think so for myself it's very dangerous for him to go over there white Thailand C culture okay again medical insurance you can't get yet okay okay it's a risk that you take and Ty if you start going into out in the wilderness let's call it that way okay and not in the big city you might turn out to have some problem you won't have any help and little infection can develop into a life-threatening uh problem if you want to take the risk all right this is something that you have to decide I don't know vctor I don't know get your shirt up at least up Amy is not yet ready to give up on Thailand the trip could present life-threatening risks but the adventure of travel has helped sustain Amy to the age of 41 when he wasn't supposed to make it past 6 all in all you're okay Amy okay you're capable of exchanging air and oxygenating your body enough good no no okay basic okay we've been Tau Shamy feel well keep it up you're doing nice yeah okay uh his tremendous passion to leave dictates most of the things that he has done until now and probably will continue doing as long as he can but there is still no cure for Amy's disorder and one may not be found before he loses the power to breathe on his own then again Amy has surprised the doctors before every doctor that sees him they don't have explanation in my opinion what keeps him it's not his physical body it's mental abilities not being able to control our muscles may seem like a terrifying scenario but Amy and kertz and Jason dun show how fully life can be lived inside an extremely uncooperative body they are intriguing puzzles of human design and extraordinary wonders of rare Anatomy