Causes, Types, and Management of Spinal Muscular Atrophy

Causes, Types, and Management of Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) affects the nerve cells in one’s brain stem and spinal cord. Such a hereditary condition severely deteriorates muscular activity, including walking, talking, sitting, and even breathing. According to SMA Foundation, this rare neuromuscular disease affects one in 6,000 to 10,000 individuals. Approximately 6 million people in the country are carriers of the defective SMA gene. Here, we discuss the causes, signs, and management methods to tackle this condition better.

Causes
Spinal muscular atrophy is passed to children through their parents’ genes. People suffering from it commonly have a missing or defective survival motor neuron-1 gene (SMN1). This defect leads to insufficient production of the SMN protein, which affects the motor neurons in the spinal cord responsible for sending signals to the muscles. SMA usually starts early in life and mainly affects the trunk, upper leg, and arm muscles. Less common types of spinal muscular atrophy include the mutation in the VAPB gene, the DYNC1H1 gene, the BICD2 gene, and the UBA1 gene on chromosomes 20, 14, 9, and X, respectively. Based on the type of defect, the symptoms, severity of muscle weakness, and prognosis can change. In some cases, the types may even overlap.

Types and Symptoms
As motor neurons shrink or die, the brain loses control over the body. An early sign of SMA is a gradual loss of control over physical movements, mainly of the neck, arms, legs, and head. One can also develop a curve or bend in the spine. Generally, SMA can be divided into four types, as given below:

Type 1
Also known as infantile-onset SMA, Type 1 is a severe condition where infants younger than six months find it difficult to sit, suckle, breathe and swallow. As a result, their muscles weaken significantly and may develop skeletal abnormalities. They may also suffer from lung collapse and respiratory infections.
Type 2
A child with a Type 2 or intermediate SMA shows early symptoms between 6 and 18 months. They can sit down but cannot walk due to weakened lower limbs. They also face respiratory problems like hypoventilation. Type 2 is relatively less deadly than Type 1, and youngsters have a chance to live into adolescence or young adulthood.
Type 3
Also known as Juvenile-onset SMA, it is comparatively milder and develops in children after 18 months. Children with Type 3 SMA experience mild muscle weakness but can walk independently. They may find it difficult to get off a chair, run, or climb stairs. If left untreated, they can develop scoliosis or the chronic shortening of tendons around joints. Common disease-modifying treatments can help manage it.
Type 4
This type of spinal muscular atrophy is a rare condition in adults that develops after age 21 and accounts for a low percentage of all cases. As far as symptoms are concerned, one may experience mild to moderate muscle weakness.

The majority of SMA types impact men and women equally. According to the Muscular Dystrophy Association, men are more likely to get SMA only in the case of a UBA1 gene mutation on the X chromosome. This occurrence is because men do not carry the second X chromosome that females do, which protects them from experiencing the full effect of the mutation.

Diagnosis and Management
SMA can be diagnosed with conventional blood tests that detect gene mutations. The tests can also show if a relatively healthy person is a defective gene carrier. If blood tests or a person’s family history do not give a necessary diagnosis, a doctor may use muscle biopsy, nerve conduction velocity studies, or electromyography. These tests help in recording a person’s muscle and neurological activity.

Although there is currently no cure for SMA, gene replacement therapies allow one to control the symptoms and live healthier lives. They replace the missing SMN1 gene with a functioning one and are suitable for kids below two years. In addition, other disease-modifying therapies focus on boosting the production of the SMN protein. They are ideal for kids between 2 and 12. Apart from the treatments mentioned above, here are a few home remedies that can support healing.

Breathing Assistance Devices
Those with compromised respiratory function may use a special mask or mouthpiece to strengthen breathing. One can also use an at-home breathing machine if the issue persists or worsens.
Light Exercises
Occupational and physical therapies can help with posture, protect joints, and slow down muscular atrophy and weakness. For instance, a doctor may recommend simple, light exercises and stretching to keep one’s mobility intact, improve range of motion, and maintain blood circulation.
Using Support
If walking proves excruciating, one can use additional support like a walker or wheelchair.

Foods to Have and Avoid
SMA may lead to muscle weakness in the throat and mouth, so eating foods that are easy to chew and swallow is necessary. For example, one may opt for smoothly mashed potatoes, yogurt, soups, juices, pureed food, and other thickened liquids. Avoiding high-fat foods like meat with tendons or cartilage, bread, and sticky food like rice is a must. Those who cannot chew or swallow may need a feeding tube in severe cases.

Long-term neuromuscular diseases like spinal muscular atrophy gradually worsen with time. Those with this condition may also require intensive care from various medical specialists. If the symptoms prevail, it’s advisable to consult a healthcare professional immediately. Families and friends are the best physical and emotional support for them. So, near and dear ones are urged to discuss and prepare for potential medical emergencies.

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Known Signs of Hemophilia and Anemia

Bleeding disorders refer to a group of conditions like hemophilia or anemia that interfere with normal blood functions in the body. Hemophilia affects the ability of the blood cells to clot naturally, while anemia lowers hemoglobin count in the red blood cells. These conditions exhibit a unique set of symptoms that can be identified. Early diagnosis helps doctors form a viable healthcare plan. So, it pays to know and identify the following symptoms. Hemophilia and Anemia: Understanding the difference Both conditions are common bleeding disorders. However, anemia & hemophilia signs are distinctly different from each other when it comes to the disease progression. The latter is a genetic disorder that affects the red blood cell’s ability to clot and close wounds. Certain clotting factors in the blood bind with the red blood cells to prevent uncontrolled bleeding. Anemia is a condition where the body lacks sufficient healthy red blood cells in the first place. Also, a low hemoglobin count affects the red blood cell’s ability to carry oxygen to vital organs and extremities via the circulatory system. Genetic mutation triggers most known types of hemophilia, while certain nutritional deficiencies in the body trigger common forms of anemia. Symptoms of hemophilia The absence of essential clotting factors in the blood can trigger a variety of noticeable and unusual symptoms. Uncontrolled bleeding Bleeding is one of the primary symptoms of hemophilia. It can happen under the skin or in the joints. As the red blood cells are unable to bind and clot, this pool of blood can trigger swelling, pain, and tightness in the joints. This symptom is most commonly noticeable in the knees, elbows, and ankles. Blood collecting under the skin can lead to buildups under the muscle and soft tissue to cause more painful bruising. This symptom is called hematoma in medical terminology. Frequent nosebleeds When the bleeding is triggered externally, it can result in frequent nosebleeds that can be difficult to stop. Note that external environmental factors and physical injuries generally cause nosebleeds. So, any unexplained bleeding could indicate a developing condition. Bleeding caused due to cuts, bruises, and vaccinations Lack of essential clotting factor VIII can trigger bleeding from the lightest of impacts, cuts, bruises, or even after losing a tooth. Some people experience sudden bleeding after taking a vaccination. This could be the body’s reaction to producing antibodies, but the strain could be too much to bear, resulting in bleeding from the extremities. Blood in urine or stool Excess blood in the urine or stool is a clear sign of disease progression. The urine and stools appear dark red or even blackish due to the presence of red blood cells mixed with the excreta. Immediate medical assistance is advisable for visual symptoms. Bleeding in infants Complicated pregnancies can be physically taxing for both the mother and the child leading to possible symptoms of hemophilia at birth. But in some rare cases, infants may experience internal bleeding in the head. Symptoms of anemia The most common types of anemia, including iron deficiency anemia and vitamin deficiency anemia, develop due to the lack of nutrients in the body. Therefore, anemia exhibits more physically taxing symptoms as the condition worsens. Tiredness Increased fatigue and weakness for no apparent reason is one of the main indicators of nutritional deficiencies. An unexplained decrease in overall stamina with no physical exertion or any activity during the day could mean low iron in the blood. Without iron, the body cannot produce enough red blood cells. And low hemoglobin means not enough oxygen is being circulated around vital organs in the body, thus resulting in fatigue induced by low energy levels. Respiratory symptoms Experiencing shortness of breath, chest pains, and even noticing an irregular heartbeat could indicate a possible anemic condition. An iron deficiency lowers hemoglobin count, and this means not enough oxygen is being circulated by the blood. Low hemoglobin affects the breathing rate as the body struggles to extract more oxygen resulting in shortness of breath. The heart must also put in extra efforts to pump the low hemoglobin blood forcefully, thus resulting in irregular heartbeats. Doctors refer to this condition as heart palpitations. These symptoms can also induce chest pains due to the sheer stress being put on the organ. Pale skin and damaged hair Skin and hair symptoms are visible indicators of a developing anemia condition. An iron deficiency results in low red blood cell production and indirectly affects the shade of the skin. Pale skin is noticeably visible around the face, gums, lower lips, lower eyelids, and even on the nails. This symptom is more visually obvious among people who flaunt a lighter skin tone. Also, hair thinning, hair fall, and a damaged scalp is a clear sign of iron deficiency. Treatment options Note that anemia & hemophilia signs never overlap. Once the primary indicators are confirmed, doctors quickly suggest blood tests to identify the leading causes or triggers. Knowing the differences can help with prompt diagnosis even though both the conditions are bleeding disorders. It is even possible to recover from common forms of anemia within 2 to 3 months. Hemophilia is a more serious bleeding disorder that is treated by introducing the missing clotting factors. Doctors also suggest prescriptions that help stimulate the body to release more clotting factors. However, a transfusion offers more promising results for moderate to severe progression. Effective preventive measures and home remedies can help lower the risk of bleeding. These conditions cannot be completely cured. But it is possible to improve the quality of life by incorporating healthy lifestyle habits. Prescriptions and treatments only help slow down the disease progression.

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Obesity – Causes and Top Management Options

Today’s busy lifestyle has resulted in unhealthy eating habits and lack of exercise, leading to lifestyle-related health complications like cholesterol, cardiovascular diseases, and obesity. A recent survey shows that more than 42% of adults in the country currently deal with obesity, making it a concerning statistic. A few simple yet significant measures like regular exercise, stress management, portion control, and better food and lifestyle choices can help with the condition.  BMI classification The terms “overweight” and “obese” are often used interchangeably, but there is a significant difference between the two. The Centers for Disease Control and Prevention (CDC) classifies these conditions based on a person’s BMI or body mass index, i.e., one’s weight in kilograms divided by the square of one’s height in meters. Typically, BMI values between 18.5 and 25 are considered “normal,” while people with BMIs of 25 to 30 are considered overweight. Finally, those with obesity have BMI scores of 30 or higher. Additionally, CDC has subdivided the condition into three categories: Class 1: BMI of 30 to <35 Class 2: BMI of 35 to <40 Class 3: BMI scores of 40 or higher Causes Genetic predisposition: Several studies demonstrate the association between obesity and genetics. Typically, mutations to the gene MC4R, encoding the melanocortin-4 receptor, are believed to be responsible for the development of the condition. The genetic influence here can vary; genes may account for as much as 80% of one’s susceptibility to the condition or can be as low as 25% for some people. Unhealthy eating habits: Consistent poor food choices contribute to the onset of the condition. Typically, a meal plan high in calories, trans fats and saturated fats, sugar, oil, and artificial preservatives can lead to this health condition. According to reports by McKinsey, one of the “Big Three” management consulting firms, the country's restaurant industry is growing at the rate of 3–4% per year, and food delivery sales are increasing by 7–8% annually. With such a remarkable increase in meal takeaways, fast-food joints, and ready-to-eat foods, many people are at a higher risk of developing lifestyle diseases. Lack of physical activity: Lack of exercise and movement causes the body to store additional energy derived from food as fat, which significantly contributes to the calorie count and promotes lifestyle-related issues. Consequently, unhealthy food and inadequate exercise are prominent causes of the condition. With desk jobs comes the risk of acute lack of physical activity that could result in lifestyle-related illnesses. Stress: People with abdominal obesity have high cortisol levels, and stress further elevates cortisol levels and perpetuates the condition. Chronic stress can also make one indulge in binge eating, increasing calories and fuelling lifestyle-related conditions. Lack of sleep: Sleep deprivation can lead to an increase in cortisol levels, as well as a deficiency in growth hormones, both of which can contribute to the condition. Research has shown that older adults with less than 5 hours of sleep were more susceptible to obesity than those with 7 to 8 hours of undisturbed sleep. Natural treatment options Adequate exercise: Adequate exercise implies avoiding inactivity as well as over-exercising. Following a regular exercise routine and setting aside at least 5 minutes an hour to walk about and stretch can significantly help shed those extra pounds. A balanced exercise regimen should involve cardio, weight training, and stretching (yoga or pilates) in equal proportions. Healthy meal plan: Making better food choices is half the battle when trying to burn calories and treat the condition. A meal plan should be rich in whole grains; lean protein sources like skinless chicken and turkey (substituting red and processed meats); low-cal fruits like grapes, apples, berries, and whole oranges; vegetables like leafy greens, carrots, broccoli, and mushrooms. Such meals can replenish the body with essential nutrients while burning fat. One must also be mindful of food intolerances, such as gluten and lactose intolerance, and avoid such foods if necessary. Portion control: Another integral aspect of cutting calories is maintaining portion control, regardless of the type of food. Any food in excess can considerably increase one’s risk of lifestyle diseases like cholesterol and heart disease. Some simple strategies like using smaller plates and measuring cups and avoiding leftover food can help achieve adequate portion control. Meditation and stress control: Relaxation techniques, like meditation and yoga, can help control stress and reduce cortisol levels. So, one should dedicate some time every day to such simple stress control techniques. Easy exercises Cardio: Cardio activities like brisk walking, jogging, running, jumping jacks, and skipping can significantly help control obesity and help one maintain a healthier lifestyle. Cardio activities increase one’s heart rate and help burn more calories. Weight training: Research shows that a person weighing 155 pounds loses approximately 108 calories per 30 minutes of weight training. The workout routine here involves strength-based exercises that help increase metabolic rate and subsequently burn calories. Cycling: Cycling is a simple yet highly effective method of shedding extra pounds. It is estimated that even leisurely cycling can burn 520 calories per hour. Today, one can easily find gym bikes with calorie-tracking options. Alternatively, if one opts for cycling as an outdoor activity, the exercise can significantly boost one’s mood and promote mental well-being. High-intensity interval training: High-intensity interval training (or HIIT) involves short exercise sessions (typically 10–30 minutes) with recovery periods. HIIT is an effective way of burning calories while avoiding exertion. Dance cardio: Activities like Zumba and aerobics have gained momentum among people of all ages, particularly because they perfectly integrate effectiveness with fun. Dance can also help with heart health, muscle strengthening, and enhanced mobility. So, monitoring food intake, avoiding processed foods, and staying physically active can help people fight obesity. Consulting healthcare professionals, nutritionists, and exercise trainers is the best way to come up with a manageable food and exercise regimen to manage the condition in a healthy way.  

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