Latest news with #nervousSystem
BBC News
11-05-2025
- Health
- BBC News
Spoan disease: Rare condition in Brazil town popular for cousin marriage
Before Silvana Santos arrived in the little town of Serrinha dos Pintos more than 20 years ago, residents had no idea why so many local children had lost the ability to remote town in north-eastern Brazil is home to fewer than 5,000 people, and is where biologist and geneticist Santos identified and named a previously unknown condition: Spoan by a genetic mutation, the syndrome affects the nervous system, gradually weakening the body. It only appears when the altered gene is inherited from both research marked the first time the disease had been described anywhere in the world. For this and later work, she was named one of the BBC's 100 most influential women in Santos arrived, families had no explanation for the illness affecting their children. Today, residents talk confidently about Spoan and genetics."She gave us a diagnosis we never had. After the research, help came: people, funding, wheelchairs," says Marquinhos, one of the patients. Serrinha dos Pintos: a world of its own Where Santos is from in São Paulo, Brazil's largest and wealthiest city, many of her neighbours were members of the same extended family originally from Serrinha. Many of them were cousins of varying degrees, married to each told Santos that many of people in their hometown couldn't walk, but that no one knew of the neighbours' daughters, Zirlândia, suffered from a debilitating condition: as a child, her eyes moved involuntarily and over time, she lost strength in her limbs and needed to use a wheelchair, requiring help with even the simplest of investigation would lead Santos and a research team to identify these as symptoms of Spoan would go on to find 82 other cases worldwide. At the invitation of her neighbours, Santos visited Serrinha on holiday. She describes her arrival as stepping into "a world of its own" - not just because of the lush scenery and mountain views, but also due to what seemed to be a notable social more she walked and spoke with locals, the more surprised she was at how common marriages between cousins geographical isolation and little inward migration mean that many of the population are related, making marriage between cousins far more likely and more socially marriages between relatives were estimated at around 10% in the early 2010s. More recent data shows the rate varies widely, from over 50% in countries like Pakistan, to 1-4% in Brazil and less than 1% in the US and Russia. Most children born to pairs of cousins are healthy, experts these marriages do face a higher risk of a harmful genetic mutation being passed down through the family."If a couple is unrelated, the chance of having a child with a rare genetic disorder or disability is about 2–3%. For cousins, the risk rises to 5–6% per pregnancy," explains geneticist Luzivan Costa Reis from Brazil's Federal University of Rio Grande do Sul.A 2010 study led by Santos showed that more than 30% of couples in Serrinha were related, and a third of them had at least one child with a disability. Long road to diagnosis Santos set out to find a diagnosis for the people of Serrinha and she began planning a detailed genetic study, requiring multiple trips and eventually leading to her relocating to the drove the 2,000km to and from São Paulo many times in the early years of her research. She collected DNA samples door-to-door, chatting to locals over coffee and gathering family stories, all the while trying to locate the mutation causing the was supposed to be three months of fieldwork turned into years of all led to the publication in 2005 of the team's study revealing the existence of Spoan in the Brazilian team found that the mutation involves the loss of a small fragment of a chromosome, which causes a gene to overproduce a key protein in brain cells. "They said it came from Maximiano, a womaniser in our family," recalls farmer Lolô, whose daughter Rejane has now 83, married his cousin and never left Serrinha. He still tends cattle and relies on family to care for Rejane, who struggles with daily the genetic mutation behind Spoan is far older than the legend of Old Maximiano: it likely arrived more than 500 years ago with early European settlers in the north-east of Brazil."Sequencing studies show strong European ancestry in patients, supporting records of Portuguese, Dutch, and Sephardic Jewish presence in the region," says theory gained strength after two Spoan cases were found in Egypt, and further studies showed that the Egyptian cases also shared European ancestry, pointing to a common origin in the Iberian Peninsula."It likely came with related Sephardic Jews or Moors fleeing the Inquisition," says Santos. She believes more cases may exist globally, especially in Portugal. Understanding the risks Although there's been little progress toward a cure, tracking patients has brought some change. Rejane recalls how people used to be called "cripples". Now, they're simply said to have brought not just independence, but also helped prevent deformities - in the past, many with the condition had been left simply lying in bed or on the Spoan progresses, physical limitations worsen with age and by 50, nearly all patients become fully dependent on is the case for Inés's children, who are among the oldest in Serrinha. Chiquinho, 59, can no longer speak, and Marquinhos, 46, has limited communication abilities."It's hard to have a 'special' child. We love them the same, but we suffer for them," says Inés, who is married to a second cousin. Larissa Queiroz, 25, the niece of Chiquinho and Marquinho, also married a distant relative. She and her husband, Saulo, only discovered their common ancestor after several months of dating."In Serrinha dos Pintos, deep down, we're all cousins. We're related to everyone," she like Larissa and Saulo are the focus of a new research project which Santos is also involved in. Backed by Brazil's Ministry of Health, it will screen 5,000 couples for genes linked to serious recessive diseases. The goal is not to stop cousin marriages, but to help couples understand their genetic risks, says Santos. Now a university professor, she also leads a genetics education centre and works to expand testing in the north-east of she no longer lives in Serrinha dos Pintos, every visit feels like coming home."It's as if Santos is family," says Inés.
The Independent
08-05-2025
- Health
- The Independent
Forget stretching – an expert recommends this exercise to fight tight hips instead
As a coach and fitness writer, having tight hips is one of the most common complaints I hear about. People usually default to stretching to sort this out, but a specialist says there are more effective ways to address the problem. Movement mechanics expert and Training Stimulus founder Ash Grossmann says regular movement and developing stability around the joint are likely to yield better long-term results for those seeking to banish tightness. 'In terms of broad, generalised advice, we want to establish what is causing the tightness,' Grossmann says. 'There are indirect reasons why a muscle could be becoming tight – the clue is if you stretch it and the tightness keeps coming back, stretching isn't solving the tightness. 'In a lot of situations, stretching can actually make it feel worse because you get into a wrestling match with your nervous system. Your nervous system generally has your best interests at heart with the tools it has available, so it thinks it's doing you a favour by tightening the muscle. Yanking on that tight muscle [via stretching] can be hurting your bigger picture goal rather than the small muscle tightness you're dealing with.' Below, Grossmann explains the possible causes of muscle tightness, and an accessible protocol for combatting this around the hips. Possible causes of muscle tightness Protection 'The first role of the nervous system, when it comes to movement, is survival and protection,' Grossman says. Muscle tightness might be your nervous system's way of preventing you from accessing a position it perceives as dangerous. For example, you might not be able to complete a full squat because your body 'doesn't feel strong, stable or in control' in the bottom position. Habit If we do anything consistently, the body will adapt to get better at it. Sitting at a desk all day with a flexed hip sends a strong message that this is a position to prioritise. As a result, the nervous system might tighten the hip flexor muscles (which raise the knee towards the chest) to do you a favour and save some energy. Regular, varied movement is the obvious remedy to this – think desk breaks, walking, side bends and rotations (like you'll find in this three-move ab workout). Instability Alternatively, Grossmann says the nervous system can use tightness in the hip flexors as a way of compensating for other muscle's shortcomings and creating stability in an otherwise unstable joint. 'If the body perceives a joint as loose or unstable, it will tighten the muscles it has to hand or that it's familiar with to try and create stability, even if they are not the ideal muscles to get the job done,' he explains. If this is the case, your first course of action should be to recruit and strengthen other key players such as the glutes, adductors and glute medius. You might do this through traditional strength training, or any number of other methods. As Grossmann says: 'Anything that gets length and load through the tissues [around the hip] will help.' The exercise below allows you to do just that, as well as work the hip through a wide range of motion, making it a top option for most people suffering from hip stiffness. The best exercise for fixing stiff hips: The Stimulus Six Lunges The body operates on a use it or lose it basis, as far as movement is concerned. To persuade it to regain range of motion around the hips and banish tightness, we need to build a solid business case for doing so, says Grossmann. 'The body is pretty rational, so unless you give it a compelling case to say, 'Actually, we need length through our hip flexors quite often and for reasonable amounts of time', it won't buy into it.' Doing the Stimulus Six Lunges daily is a good way to go about this. It involves lunging in six different directions, recruiting all the main musculature of the hip and moving in all three planes of motion; sagittal, meaning up, down, forward and backward; frontal, meaning side-to-side; and transverse, meaning rotational. Doing this acts like a mini movement assessment in itself, as you can work out your weaknesses by observing which lunges you struggle with. 'If you don't like doing a side lunge, maybe the adductors are super tight,' he explains. 'If you don't like doing a crossover lunge, maybe the lateral hip or the glute medius is really tight,' Grossmann says. 'By regularly training those movements, we're telling the body, 'We're going to be doing these movements, so you'd better get used to getting length in these muscles'.' Done daily, this will help the hips of your average desk job worker feel 'way, way better', he says. 'There's obviously a lot more nuance you could dig into on an individual basis, but their hips are going to be exposed to more positions and ranges of motion than even a lot of people who go to the gym all the time,' Grossmann explains. 'A lot of gym rats will just do squats and deadlifts, only moving up and down, but not moving sideways or rotating. If you do the Stimulus Six Lunges, you are maintaining your body's ability to access all the joint motions of the hip.' If you simply want to maintain your mobility, doing the sequence daily will help. If you're looking to improve your body's strength and performance in these positions for sport, you can progressively overload them by adding weight, upping the number of reps or increasing the range of motion accessed in each direction. 'If you can only do a side lunge to 90cm at first, gradually working towards a wider side lunge is another way to track and improve, beyond adding weight,' says Grossmann. 'Whether you need to do this all comes back to what your goals are. Do you need more mobility, or are you just trying to keep those hips feeling good and not lose access to those joint positions?' Ultimately the best thing you can do is listen to your body but if you're struggling with tightness, it could be worth asking yourself why the feeling keeps returning and look to Grossmann's advice for help. By taking a slightly different approach you might start to see changes and hopefully, improvements too.
Health Line
06-05-2025
- Health
- Health Line
What Does Your Sympathetic Nervous System Do?
The sympathetic nervous system, which helps your heart and other vital organs function all the time, increases activity in response to danger or stress, preparing the body for extra demands. Stress is a part of everyday life, and the sympathetic nervous system, which increases activation in response to increased physical demands, may also increase activity in response to stress if we don't learn how to manage it. This system, called the sympathetic nervous system (SNS), is part of the autonomic nervous system, which operates automatically without conscious effort. The SNS plays a key role in what is known as the ' fight-or-flight ' response, preparing your body to respond to temporary increases in physical demands, which can happen during times of danger, or during physically demanding, but non stressful situations, like playing competitive sports. Primary functions of the SNS The sympathetic nervous system activity is always functioning in balance with the parasympathetic nervous system, and has effects on organs throughout your body that can potentially help you with physically demanding actions. These changes can happen in an instant and include: Increased respiration rate: Your breathing quickens to bring in more oxygen. This oxygen is directed to your muscles to give you the strength and energy needed to respond. Elevated blood pressure: Some blood vessels in the body constrict, and some blood vessel in the body dilate. The heart also beats faster, which helps move blood more efficiently to vital organs like the heart and brain. Constricted blood vessels in non-essential areas: Blood flow is reduced to systems that are not immediately needed, such as the digestive system, and redirected to the muscles and brain. Water retention: Your body retains water to help maintain blood volume, which is essential for sustaining circulation. Ultimately, the primary function of the sympathetic nervous system is to help the body maintain balance and stay alert by continuously regulating heart rate, blood pressure, breathing, oxygen flow, vision, and attention. During periods of stress or challenge, it temporarily increases activity to enhance strength, focus, and energy by boosting oxygen delivery and circulation. Why the fight-or-flight response exists The fight-or-flight response is your body's way of putting survival first. Imagine you're hiking and suddenly see a snake. Even before you have time to think, your heart rate jumps, your muscles tense, and your senses sharpen. That is your sympathetic nervous system at work. It bypasses conscious thought to trigger immediate physical reactions that can help keep you safe. This reaction has deep evolutionary roots. Our ancestors relied on it to survive threats in their environment, such as predators or natural dangers. While most modern stressors aren't life-threatening, our bodies can still respond as if they are. A traffic jam, a job interview, or even a loud noise can trigger the overactivation of the sympathetic nervous system, leading to symptoms like jitters, trouble focusing, or feeling frozen. In these situations, the fight-or-flight response may actually get in the way, which is why learning to manage our stress response is so important. How the body response to triggers The sympathetic nervous system can be triggered by many types of stress, both real and perceived. These triggers vary from person to person but often include loud sounds, conflict, pressure at work, or even scrolling through upsetting news. When the system is activated, you might notice: Increased heart rate: Your heart pumps faster to send blood to the muscles and brain. Dilated pupils: Your eyes open wider to allow more light in, improving vision. Heightened alertness: You feel more aware and focused, sometimes almost jittery. Changes in digestion: Blood is pulled away from your stomach and intestines, which can lead to a 'butterflies in the stomach' feeling or even nausea. Energy release: Your liver releases stored glucose, giving your body quick fuel to act. Some people may feel the effects of sympathetic nervous system activation more intensely, while others may simply be more aware of them. For example, someone with anxiety might both experience stronger physical symptoms and be more attuned to those changes, even in response to minor stressors. This kind of awareness can be helpful, as it's the first step toward understanding and managing the body's stress responses more effectively. Balance with the parasympathetic system The sympathetic nervous system speeds things up, abd its counterpart, the parasympathetic nervous system, slows things down. This is the 'rest and digest' system. After the threat passes, it helps your body return to a calm state. Heart rate slows, digestion resumes, and your breathing returns to normal. The balance between these two systems is essential for good health. If your sympathetic system is activated too often or for too long, it can become dysregulated, making it harder for your body to return to a calm state. This overactivation can lead to symptoms like chronic anxiety, fatigue, irritability, and even physical issues such as digestive problems or high blood pressure. That is why learning to engage the parasympathetic system is so important. How to manage your response Understanding how your sympathetic nervous system works can help you manage stress more effectively. Here are a few strategies: Deep breathing: Slow, deep breaths help stimulate the parasympathetic system and reduce the impact of the fight-or-flight response. Exercise: Physical activity helps your body redirect the effects of stress hormones and can regulate both systems. Mindfulness and meditation: These practices calm the mind and body, encouraging a return to balance.
