Links for Keyword: Movement Disorders

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Rae Ellen Bichell For Tim Goliver and Luther Glenn, the worst illness of their lives started in the same way — probably after having a stomach bug. Tim was 21 and a college student at the University of Michigan. He was majoring in English and biology and active in the Lutheran church. "I was a literature geek," says Tim. "I was really looking forward to my senior year and wherever life would take me." Luther was in his 50s. He'd spent most of his career as a U.S. military policeman and was working in security in Washington, D.C. He'd recently separated from his wife and had just moved into a new house with his two daughters, who were in their 20s. Both men recovered from their stomach bugs, but a few days later they started to feel sluggish. "Here we are trying to unpack, prepare ourselves for new life together and I'm flat out, dead tired," says Luther. He fell asleep in the car one morning and never made it out of the garage. Then he fell in the bathroom. For Tim, it started to feel like running a marathon just to lift a spoonful of soup. One morning, he tried to comb his hair and realized he couldn't lift his arm above his shoulder. "At that moment I started to freak out," he says. Both men got so weak that their families had to wheel them into the emergency room in wheelchairs. They got the same diagnosis: Guillain-Barre syndrome, a neurological disorder which can leave people paralyzed for weeks. © 2016 npr

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 15: Emotions, Aggression, and Stress
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 11: Emotions, Aggression, and Stress
Link ID: 22217 - Posted: 05.16.2016

Sara Reardon Elite ski jumpers rely on extreme balance and power to descend the steep slopes that allow them to reach up to 100 kilometres per hour. But the US Ski and Snowboard Association (USSA) is seeking to give its elite athletes an edge by training a different muscle: the mind. Working with Halo Neuroscience in San Francisco, California, the sports group is testing whether stimulating the brain with electricity can improve the performance of ski jumpers by making it easier for them to hone their skills. Other research suggests that targeted brain stimulation can reduce an athlete’s ability to perceive fatigue1. Such technologies could aid recovery from injury or let athletes try 'brain doping' to gain a competitive advantage. Yet many scientists question whether brain stimulation is as effective as its proponents claim, pointing out that studies have looked at only small groups of people. “They’re cool findings, but who knows what they mean,” says cognitive psychologist Jared Horvath at the University of Melbourne in Australia. The USSA is working with Halo to judge the efficacy of a device that delivers electricity to the motor cortex, an area of the brain that controls physical skills. The company claims that the stimulation helps the brain build new connections as it learns a skill. It tested its device in an unpublished study of seven elite Nordic ski jumpers, including Olympic athletes. © 2016 Nature Publishing Group,

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 21979 - Posted: 03.12.2016

Laura Sanders For some adults, Zika virus is a rashy, flulike nuisance. But in a handful of people, the virus may trigger a severe neurological disease. About one in 4,000 people infected by Zika in French Polynesia in 2013 and 2014 got a rare autoimmune disease called Guillain-Barré syndrome, researchers estimate in a study published online February 29 in the Lancet. Of 42 people diagnosed with Guillain-Barré in that outbreak, all had antibodies that signaled a Zika infection. Most also had recent symptoms of the infection. In a control group of hospital patients who did not have Guillain-Barré, researchers saw signs of Zika less frequently: Just 54 out of 98 patients tested showed signs of the virus. The message from this earlier Zika outbreak is that countries in the throes of Zika today “need to be prepared to have adequate intensive care beds capacity to manage patients with Guillain-Barré syndrome,” writes study coauthor Arnaud Fontanet of the Pasteur Institute in Paris and colleagues, some of whom are from French Polynesia. The study, says public health researcher Ernesto Marques of the University of Pittsburgh, “tells us what I think a lot of people already thought: that Zika can cause Guillain-Barré syndrome.” As with Zika and the birth defect microcephaly (SN: 2/20/16, p. 16), though, more work needs to be done to definitively prove the link. Several countries currently hard-hit by Zika have reported upticks in Guillain-Barré syndrome. Colombia, for instance, usually sees about 220 cases of the syndrome a year. But in just five weeks between mid-December 2015 to late January 2016, doctors diagnosed 86 cases, the World Health Organization reports. Other Zika-affected countries, including Brazil, El Salvador and Venezuela, have also reported unusually high numbers of cases. © Society for Science & the Public 2000 - 2016. All rights reserved.

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 15: Emotions, Aggression, and Stress
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 11: Emotions, Aggression, and Stress
Link ID: 21939 - Posted: 03.01.2016

Colombia says three people have died after contracting the Zika virus and developing a rare nerve disorder. Health Minister Alejandro Gaviria said there was a "causal connection" between Zika, the Guillain-Barre disorder and the three deaths. Earlier, Brazilian scientists said they had detected for the first time active samples of Zika in urine and saliva. However, it is not clear whether the virus can be transmitted through bodily fluids. Zika, a mosquito-borne disease, has been linked to cases of babies born in Brazil with microcephaly - underdeveloped brains. "We have confirmed and attributed three deaths to Zika," said the head of Colombia's National Health Institute, Martha Lucia Ospina. "In this case, the three deaths were preceded by Guillain-Barre syndrome." Guillain-Barre is a rare disorder in which the body's immune system attacks part of the nervous system. It isn't normally fatal. Ms Ospina said another six deaths were being investigated for possible links to Zika. "Other cases (of deaths linked to Zika) are going to emerge," she said. "The world is realising that Zika can be deadly. The mortality rate is not very high, but it can be deadly." Mr Gaviria said one of the fatalities took place in San Andres and the other two in Turbo, in Antioquia department. UK virologist Prof Jonathan Ball, of the University of Nottingham, told the BBC: "We have been saying Zika has been associated with Guillain-Barre. One of the complications of that could be respiratory failure. But it is still probably a very rare event." Although Zika usually causes mild, flu-like symptoms, it has been linked to thousands of suspected birth defects. However, it has not yet been proved that Zika causes either microcephaly or Guillain-Barre. © 2016 BBC

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 15: Emotions, Aggression, and Stress
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 11: Emotions, Aggression, and Stress
Link ID: 21865 - Posted: 02.06.2016

By Ralph G. Neas In mid-February of 1979, I started experiencing tingling sensations in my feet and fingers. I told myself I was only feeling some residual effects from a bout with the flu several weeks before, and I caught the afternoon plane to Minneapolis to join my new boss, U.S. Sen. David Durenberger (R-Minn.), for several days of political meetings. That was on Sunday. On Tuesday, midway through a presentation, I began slurring my words and I found it hard to swallow. A local doctor, on hearing I’d had the flu, told me to go to my hotel room, take a couple of aspirin and call him in the morning. I spent the night moving from the bed to the couch to the chair to the floor, seeking relief from pain that was affecting more and more of my body. Just before dawn, I noticed that the right side of my face was paralyzed. On my way to the ER, the left side became paralyzed. I wasn’t having a recurrence of the flu. A spinal tap confirmed doctors’ suspicions that I’d come down with Guillain-Barré syndrome, or GBS, a rare neurological disorder that can cause total paralysis. Within 10 days I was so weakened by the spreading paralysis in my legs and arms that I could not get out of my bed at St. Mary’s, the Minneapolis hospital where I was being treated. Within three weeks, doctors performed a tracheostomy — connecting a mechanical respirator to my windpipe — because my ability to breathe was getting so poor.

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 15: Emotions, Aggression, and Stress
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 11: Emotions, Aggression, and Stress
Link ID: 21777 - Posted: 01.12.2016

By NICHOLAS WADE After decades of disappointingly slow progress, researchers have taken a substantial step toward a possible treatment for Duchenne muscular dystrophy with the help of a powerful new gene-editing technique. Duchenne muscular dystrophy is a progressive muscle-wasting disease that affects boys, putting them in wheelchairs by age 10, followed by an early death from heart failure or breathing difficulties. The disease is caused by defects in a gene that encodes a protein called dystrophin, which is essential for proper muscle function. Because the disease is devastating and incurable, and common for a hereditary illness, it has long been a target for gene therapy, though without success. An alternative treatment, drugs based on chemicals known as antisense oligonucleotides, is in clinical trials. But gene therapy — the idea of curing a genetic disease by inserting the correct gene into damaged cells — is making a comeback. A new technique, known as Crispr-Cas9, lets researchers cut the DNA of chromosomes at selected sites to remove or insert segments. Three research groups, working independently of one another, reported in the journal Science on Thursday that they had used the Crispr-Cas9 technique to treat mice with a defective dystrophin gene. Each group loaded the DNA-cutting system onto a virus that infected the mice’s muscle cells, and excised from the gene a defective stretch of DNA known as an exon. Without the defective exon, the muscle cells made a shortened dystrophin protein that was nonetheless functional, giving all of the mice more strength. The teams were led by Charles A. Gersbach of Duke University, Eric N. Olson of the University of Texas Southwestern Medical Center and Amy J. Wagers of Harvard University. © 2016 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 4: Development of the Brain
Link ID: 21745 - Posted: 01.02.2016

The clock is ticking for Ronald Cohn. He wants to use CRISPR gene editing to correct the genes of his friend’s 13-year-old son. The boy, Gavriel, has Duchenne muscular dystrophy, a genetic disease in which muscles degenerate. Breathing and heart problems often start by the time people with the condition are in their early twenties. Life expectancy is about 25 years. By the standards of science, the field of CRISPR gene editing is moving at a lightning fast pace. Although the technique was only invented a few years ago, it is already being used for research by thousands of labs worldwide to make extremely precise changes to DNA. A handful of people have already been treated using therapies enabled by the technology, and last week an international summit effectively endorsed the idea of gene editing embryos. It is too soon to try the technique out, but the summit concluded that basic research on embryos should be permitted, alongside a debate on how we should use the technology. But for people like Cohn, progress can’t come fast enough. Gavriel was diagnosed at age 4. He has already lost the use of his legs but still has some movement in his upper body, and uses a manual wheelchair. Cohn, a clinician at the Hospital for Sick Children in Toronto, estimates that he has three years to develop and test a CRISPR-based treatment if he is to help Gavriel. Muscular dystrophy is caused by a faulty gene for the protein dystrophin, which holds our muscles together. Gavriel has a duplicated version of the gene. This week, Cohn’s team published a paper describing how they grew Gavriel’s cells in a dish and used CRISPR gene-editing techniques to snip out the duplication. With the duplication removed, his cells produced normal dystrophin protein. © Copyright Reed Business Information Ltd.

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 4: Development of the Brain
Link ID: 21698 - Posted: 12.14.2015

By Karen Weintraub Essential tremor is involuntary shaking – usually of the hands, but sometimes also of the neck, jaw, voice or legs. “Any fine tasks with the hands can be very difficult when the tremor is pronounced,” said Dr. Albert Hung, center director of the Massachusetts General Hospital National Parkinson Foundation Center of Excellence. Essential tremor can affect balance, walking, hearing and cognition, and can get worse over time, said Dr. Elan Louis, chief of the division of movement disorders at Yale School of Medicine. People with essential tremor run almost twice the risk of developing Alzheimer’s as the general population. Essential tremor appears with movement; if people let their hands sit still, they don’t tremble. That is the big difference between an essential tremor and the tremor of Parkinson’s disease, which can occur while at rest, Dr. Louis said. Essential tremor also tends to strike both hands while Parkinson’s is more one-sided at first, said Dr. Hung. The cause of essential tremor remains a mystery, though it seems to run in families. People of any age or sex can have the condition, though it is more common as people grow older. Roughly 4 percent of 40-year-olds have essential tremor, compared with about 20 percent of 90-year-olds, Dr. Louis said. Available treatments “aren’t great,” Dr. Louis said. Two medications – the beta blocker propranolol and the epilepsy drug primidone, sold under the brand name Mysoline – can reduce tremors by 10 to 30 percent, he said, but they work only in about half of patients. Deep brain stimulation – implanting electrodes into the brain to override faulty electrical signals – has been shown to markedly reduce hand tremor severity, he said. But the treatment can worsen cognitive and balance problems and “doesn’t cure the underlying disease. It merely and temporarily lessons a single symptom, which is the tremor.” © 2015 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 21653 - Posted: 11.24.2015

Ewen Callaway Ringo, a golden retriever born in 2003 in a Brazilian kennel, was never expected to live long. Researchers bred him and his littermates to inherit a gene mutation that causes severe muscular dystrophy. They hoped that the puppies would provide insight into Duchenne muscular dystrophy (DMD), an untreatable and ultimately fatal human disease caused by inactivation of the same gene. But Ringo’s muscles didn't waste away like his littermates', and researchers have now determined why: he was born with another mutation that seems to have protected him from the disease, according to a paper published in Cell1. Scientists hope that by studying Ringo’s mutation — which has never before been linked to muscular dystrophy — they can find new treatments for the disease. As many as 1 in 3,500 boys inherit mutations that produce a broken version of a protein called dystrophin, causing DMD. (The disease appears in boys because the dystrophin gene sits on the X chromosome, so girls must inherit two copies of the mutated gene to develop DMD.) The protein helps to hold muscle fibres together, and its absence disrupts the regenerative cycle that rebuilds muscle tissue. Eventually, fat and connective tissue replace muscle, and people with DMD often become reliant on a wheelchair before their teens. Few survive past their thirties. Some golden retriever females carry dystrophin mutations that cause a similar disease when passed onto male puppies. Dog breeders can prevent this through genetic screening. But Mayana Zatz, a geneticist at the University of São Paulo in Brazil, and her colleagues set out to breed puppies with the mutation to model the human disease. © 2015 Nature Publishing Group,

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 21632 - Posted: 11.14.2015

Laura Sanders Scribes usually have pretty good handwriting. That’s not the case for one prolific 13th century writer known to scholars only as the Tremulous Hand of Worcester. Now scientists suggest the writer suffered from a neurological condition called essential tremor. Neurologist Jane Alty and historical handwriting researcher Deborah Thorpe, both of the University of York in England, made the retrospective diagnosis August 31 in Brain after studying the spidery wiggles that pervade the scribe’s writing. Essential tremor can cause shaking of the hands, head and voice and is distinct from other tremor-causing conditions such as Parkinson’s disease. Here, the anonymous writer’s peculiar script is evident (lighter portion of text) in an early Middle English version of the Nicene Creed, a summary of the Christian faith. Buried in the manuscript are clues that helped the researchers conclude that essential tremor plagued the Tremulous Hand. The Tremulous Hand of Worcester’s writing appeared in more than 20 books, including the Nicene Creed, a summary of the Christian faith. The writer’s distinctive script is the lighter portion of the text, about a third of the way down the page. Several clues led researchers to diagnose the scribe with essential tremor (see following images). © Society for Science & the Public 2000 - 2015.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 21482 - Posted: 10.07.2015

Ever waited for a bus rather than take the short walk to work? Headed for the escalator instead of the stairs? Humans clearly harbour a deep love of lethargy – and now we know how far people will go to expend less energy. We will change our walking style on the fly when our normal gait becomes even a little more difficult. The finding could have implications for the rehabilitation offered to people with spinal injuries. Jessica Selinger and her colleagues at Simon Fraser University in Burnaby, British Columbia, Canada, strapped volunteers into a lightweight robotic exoskeleton and put them on a treadmill. Initially, the team let the volunteers find their preferred walking rhythm – which turned out to be 1.8 steps per second, on average. Then the researchers switched on the exoskeleton, programming it to make it more difficult for the volunteers to walk at their preferred pace by preventing the knee from bending – and leg swinging – as freely. The exoskeleton didn’t interfere with the human guinea pigs’ ability to walk faster or slower than they preferred. Within minutes the volunteers had found a walking style that the exoskeleton would allow without offering resistance. Remarkably, though, they did so despite the fact that the exoskeleton only ever offered minimal resistance. By using breathing masks to analyse the volunteers’ metabolic activity, Selinger’s team found that subjects would shift to an awkward new gait even if the energy saving was only 5 per cent. “People are able to adapt and fine-tune in order to move in the most energetically optimal way,” says Selinger. “People will change really fundamental characteristics of their gait.” © Copyright Reed Business Information Ltd.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 21398 - Posted: 09.11.2015

By Jennifer Couzin-Frankel Some rare diseases pull researchers in and don’t let them go, and the unusual bone condition called fibrodysplasia ossificans progressiva (FOP) has long had its hooks in Aris Economides. “The minute you experience it it’s impossible to step back and forget it,” says the functional geneticist who runs the skeletal disease program at Regeneron Pharmaceuticals in Tarrytown, New York. “It’s devastating in the most profound way.” The few thousand or so people with FOP worldwide live with grueling uncertainty: Some of their muscles or other soft tissues periodically, and abruptly, transform into new bone that permanently immobilizes parts of their bodies. Joints such as elbows or ankles may become frozen in place; jaw motion can be impeded and the rib cage fixed, making eating or even breathing difficult. Twenty years after he first stumbled on FOP, Economides and his colleagues report today that the gene mutation shared by 97% of people with the disease can trigger its symptoms in a manner different than had been assumed—through a single molecule not previously eyed as a suspect. And by sheer chance, Regeneron had a treatment for this particular target in its freezers. The company tested that potential therapy, a type of protein known as a monoclonal antibody, on mice with their own form of FOP and lo and behold, they stopped growing unwelcome new bone. © 2015 American Association for the Advancement of Science.

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 4: Development of the Brain
Link ID: 21377 - Posted: 09.03.2015

Boer Deng Palaeontologist Stephen Gatesy wants to bring extinct creatures to life — virtually speaking. When he pores over the fossilized skeletons of dinosaurs and other long-dead beasts, he tries to imagine how they walked, ran or flew, and how those movements evolved into the gaits of their modern descendents. “I'm a very visual guy,” he says. But fossils are lifeless and static, and can only tell Gatesy so much. So instead, he relies on XROMM, a software package that he developed with his colleagues at Brown University in Providence, Rhode Island. XROMM (X-ray Reconstruction of Moving Morphology) borrows from the technology of motion capture, in which multiple cameras film a moving object from different angles, and markers on the object are rendered into 3D by a computer program. The difference is that XROMM uses not cameras, but X-ray machines that make videos of bones and joints moving inside live creatures such as pigs, ducks and fish. Understanding how the movements relate to the animals' bone structure can help palaeontologists to determine what movements would have been possible for fossilized creatures. “It's a completely different approach” to studying evolution, says Gatesy. XROMM, released to the public in 2008 as an open-source package, is one of a number of software tools that are expanding what researchers know about how animals and humans walk, crawl and, in some cases, fly (see ‘Movement from inside and out’). That has given the centuries-old science of animal motion relevance to a wide range of fields, from studying biodiversity to designing leg braces, prostheses and other assistive medical devices.“We're in an intense period of using camera-based and computer-based approaches to expand the questions we can ask about motion,” says Michael Dickinson, a neuroscientist at the California Institute of Technology in Pasadena. © 2015 Nature Publishing Group

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 21370 - Posted: 09.01.2015

By David Noonan Leaping through the air with ease and spinning in place like tops, ballet dancers are visions of the human body in action at its most spectacular and controlled. Their brains, too, appear to be special, able to evade the dizziness that normally would result from rapid pirouettes. When compared with ordinary people's brains, researchers found in a study published early this year, parts of dancers' brains involved in the perception of spinning seem less sensitive, which may help them resist vertigo. For millions of other people, it is their whole world, not themselves, that suddenly starts to whirl. Even the simplest task, like walking across the room, may become impossible when vertigo strikes, and the condition can last for months or years. Thirty-five percent of adults older than 39 in the U.S.—69 million people—experience vertigo at one time or another, often because of damage to parts of the inner ear that sense the body's position or to the nerve that transmits that information to the brain. Whereas drugs and physical therapy can help many, tens of thousands of people do not benefit from existing treatments. “Our patients with severe loss of balance have been told over and over again that there's nothing we can do for you,” says Charles Della Santina, an otolaryngologist who studies inner ear disorders and directs the Johns Hopkins Vestibular NeuroEngineering Laboratory. Steve Bach's nightmare started in November 2013. The construction manager was at home in Parsippany, N.J. “All of a sudden the room was whipping around like a 78 record,” says Bach, now age 57. He was curled up on the living room floor in a fetal position when his daughter found him and called 911. He spent the next five days in the hospital. © 2015 Scientific American

Related chapters from BN: Chapter 9: Hearing, Balance, Taste, and Smell; Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 6: Hearing, Balance, Taste, and Smell; Chapter 5: The Sensorimotor System
Link ID: 21248 - Posted: 08.01.2015

Skinny jeans can seriously damage muscles and nerves, doctors have said. A 35-year-old woman had to be cut out of a pair after her calves ballooned in size, the medics said in the Journal of Neurology, Neurosurgery and Psychiatry. She had spent hours squatting to empty cupboards for a house move in Australia. By evening, her feet were numb and she found it hard to walk. Doctors believe the woman developed a condition called compartment syndrome, made worse by her skinny jeans. Compartment syndrome is a painful and potentially serious condition caused by bleeding or swelling within an enclosed bundle of muscles - in this case, the calves. The condition caused the woman to trip and fall and, unable to get up, she then spent several hours lying on the ground. On examination at the Royal Adelaide Hospital, her lower legs were severely swollen. Although her feet were warm and had enough blood supplying them, her muscles were weak and she had lost some feeling. As the pressure had built in her lower legs, her muscles and nerves became damaged. She was put on an intravenous drip and after four days was able to walk unaided. Other medics have reported a number of cases where patients have developed tingly, numb thighs from wearing the figure-hugging low-cut denim trousers - although the chance of it happening is still slim for most people. Priya Dasoju, professional adviser at the Chartered Society of Physiotherapy, said: "As with many of these warnings, the very unfortunate case highlighted is an extreme one. © 2015 BBC

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 21084 - Posted: 06.23.2015

By Sandra G. Boodman The test had become something of an annual ritual. Every year beginning when he turned 45, Thomas Clark Semmes, an IT consultant for the federal government, would visit his internist for a physical. In a standard test of the sensory system that is often part of a physical, the Baltimore doctor would prick the soles of Semmes’s feet with a pin. “He’d look at me and say, ‘Tell me when you feel it,’ and I’d say ‘I will when I can,’ ” Semmes, now 56, recalled of the pinprick test. Because he never felt anything, he said nothing. “It never really concerned me very much,” he recalled. His doctor would then dutifully jot something in his chart, never exploring it further. But in 2013, nearly a decade after that first test, a quick evaluation by a podiatrist revealed the reason for his unfeeling feet and provided an explanation for an anatomical oddity in one of Semmes’s close relatives. In retrospect, Semmes wishes he had asked his internist about the lack of sensation, but he assumed it wasn’t important — otherwise, the doctor would have said something. And as Semmes would later learn, not knowing what was wrong had cost him valuable time. “I definitely wish I’d been diagnosed sooner,” he said. “There are things that could have been done to lessen the impact.” Before 2013, Semmes never had much reason to think about his feet. He knew he had hammertoes — toes that bend downward at the middle joint as a result of heredity or trauma — as well as extremely high arches, but neither condition was painful or limiting. At least, he thought, he did not have bird legs like his father, whose limbs were so storklike that they were a running family joke. “I had big, muscular legs,” Semmes said.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 21029 - Posted: 06.09.2015

By Lisa Sanders, M.D On Thursday we challenged Well readers to solve the difficult case of twin sisters who, in the prime of youth, developed a weakness that forced them to use their arms to rise from a chair. Nearly 300 of you wrote in with thoughts on this difficult case. Many of you recognized that this was likely to be a genetic disorder, though I greatly admired the “House”-ian thinking that led to a host of possible reasons why two sisters, living in different states, might develop the same symptoms independent of their shared DNA. It took this patient, Katie Buryk, four years to get her answer, which was: Late onset Tay-Sachs disease Although several of you made this difficult diagnosis, the first to do so was George Bonadurer, a second year medical student at Mayo Medical School in Rochester, Minn. He says he recently read about this disease in a book of unusual cases that had come to the Mayo clinic for help. This is actually Mr. Bonadurer’s second win of this contest. Strong work! Tay-Sachs disease was first identified by two physicians, independently, in the 1880s. Dr. Warren Tay was an ophthalmologist in London. Dr. Bernard Sachs was a neurologist in New York City. Each described a disease in infants that caused profound weakness, blindness and, usually by age 4, death. Careful consideration of cases over the following decades showed that the disease was inherited and often seen in children of Ashkenazi descent. Studying the patterns of inheritance, it became clear that both parents had to have the abnormal gene and that each of their children would have a one in four chance of being born with the disease. The terrible manifestations of the disease derive from an inherited inability to make an essential protein in the brain. This protein acts to break down discarded components of the cells. Without this protein, these discarded cell parts accumulate, interrupting normal nerve and brain cell functioning. This mechanism and the missing protein was identified in 1969, allowing for the development of a test for carriers. Since the development of this test, the incidence of Tay-Sachs in the United States has dropped by 90 percent. © 2015 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity; Chapter 7: Life-Span Development of the Brain and Behavior
Related chapters from MM:Chapter 5: The Sensorimotor System; Chapter 4: Development of the Brain
Link ID: 20902 - Posted: 05.09.2015

By Emily Dwass In the frightening world of brain tumors, “benign” is a good word to hear. But even a nonmalignant tumor can be dangerous — especially if, as in my case, it goes undetected, becoming a stealth invader. “Anecdotally, we often hear about women who were originally misdiagnosed — sometimes for years,” said Tom Halkin, a spokesman for the patient advocacy nonprofit National Brain Tumor Society. When I developed tingling in my limbs 12 years ago, two Los Angeles neurologists diagnosed Guillain-Barré syndrome, a disorder in which the immune system attacks the nervous system. The symptoms of numbness and weakness ebbed and flowed for three years. Then one day, I couldn’t slide my right foot into a flip-flop. This got me a ride in a magnetic resonance imaging machine, which revealed a brain mass the size of a tennis ball. It was a benign meningioma, a tumor that grows in the membranes surrounding the brain and spinal cord. After the diagnosis, I consulted with Los Angeles surgeons. “We’re going to cut your head open like a pumpkin,” one told me. I chose someone else, who had a stellar reputation, who was compassionate, and who did not compare my skull to a squash. “You’re cured,” he said as I awoke in the operating room. Recovery took about six weeks and went smoothly, except for my right foot, which remains partly numb. I relearned to walk and to drive with my left foot, using adaptive equipment. Had my tumor been diagnosed earlier, I might have avoided a large craniotomy and permanent foot issues. “It’s critical to find these tumors when they are small, when radiosurgery is an option, rather than when they are very big or produce a lot of symptoms, at which point it’s not optimal to treat them without doing open surgery,” said Dr. Susan Pannullo, the director of neuro-oncology and neurosurgical radiosurgery at NewYork-Presbyterian Hospital and Weill Cornell Medical College. © 2015 The New York Times Company

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 20854 - Posted: 04.28.2015

By Maggie Fox and Jane Derenowski A new strain of the polio-like EV-D68 may be causing the rare and mystifying cases of muscle weakness that's affected more than 100 kids across the United States, researchers reported Monday. They say they've found the strongest evidence yet that the virus caused the polio-like syndrome, but they also say it appears to be rare and might have to do with the genetic makeup of the patients. No other germ appears to be responsible, the team reports in the journal Lancet Infectious Diseases. But because most kids were tested many days after they first got sick, it may be impossible to ever know for sure. The body will have cleared the virus itself by then, said Dr. Charles Chiu of the University of California San Francisco, who helped conduct the study. "This is a virus that causes the common cold," Chiu told NBC News. "Parents don't bring their kids in until they are really sick. By that time, typically, the viral levels may be very, very low or undetectable." "Every single virus that we found in the children corresponded to new strain of the virus, called B-1." Enterovirus D68 (EV-D68) is one of about 100 different enteroviruses that infect people. They include polio but also a range of viruses that cause cold-like symptoms. Polio's the only one that is vaccinated against; before widespread vaccination it crippled 35,000 people a year in the United States.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 20739 - Posted: 03.31.2015

By Sandra G. Boodman Catherine Cutter’s voice was her livelihood. A professor of food science at Penn State University, the microbiologist routinely lectured to large classes about food safety in the meat and poultry industries. But in 2008, after Cutter’s strong alto voice deteriorated into a raspy whisper, she feared her academic career might be over.How could she teach if her students could barely hear her? The classroom wasn’t the only area of Cutter’s life affected by her voicelessness. The mother of two teenagers, Cutter, now 52, recalls that she “couldn’t yell — or even talk” to her kids and would have to knock on a wall or countertop to get their attention. Social situations became increasingly difficult as well, and going to a restaurant was a chore. Using the drive-through at her bank or dry cleaner was out of the question because she couldn’t be heard. “I just retreated,” said Cutter, who sought assistance from nearly two dozen specialists for her baffling condition. The remedies doctors prescribed — when they worked at all — resulted in improvement that was temporary at best. For two years Cutter searched in vain for help. It arrived in the form of a neurosurgeon she consulted for a second opinion about potentially risky surgery to correct a different condition. He suggested a disorder that had never been mentioned, a diagnosis that proved to be correct — and correctable. Until then, “everyone had been looking in the wrong place,” Cutter said.

Related chapters from BN: Chapter 11: Motor Control and Plasticity
Related chapters from MM:Chapter 5: The Sensorimotor System
Link ID: 20605 - Posted: 02.24.2015