Genetic Disorders

What are genetic disorders?

Genetic disorders are health conditions caused by changes (also called mutations or variants) in your genes. Genes are parts of DNA found in your cells that carry instructions for how your body grows, develops, and functions. Many genes tell your body how to make proteins, which are needed for your body to work properly.

A genetic disorder happens when a gene variant changes how a protein is made. The variant may cause the protein to work poorly or not be made at all. If genes don't make the right proteins, or don't make them correctly, it can lead to a genetic disorder.

Not all gene changes cause disease. Often, these changes have no effect. But sometimes, even a small change in DNA can affect how proteins are made.

Gene variants can be grouped into two main types:

• Inherited variants (also called germline variants) are passed down from your parents. They come from egg or sperm cells.
• Non-inherited (also called somatic variants) are not passed down from your parents. They happen during your lifetime. They may be caused by things like harmful chemicals or ultraviolet (UV) rays from the sun.

Genetic disorders may be caused by:

• Single gene disorders are caused by changes in one gene. Examples can include sickle cell anemia, where a change in a single gene can cause the condition, and Charcot-Marie-Tooth disease, where a variant in one of many different genes can cause the condition.
• Chromosomal disorders are caused by missing, extra, or altered chromosomes. Chromosomes are structures that carry genes. These disorders involve changes in the number of chromosomes people have or changes in the structure of one or more chromosomes. An example is Down syndrome, which is caused by an extra copy of chromosome 21.
• Complex (multifactorial) disorders are caused by changes in many genes. Each change alone may not cause the disease, but together they increase the risk. Lifestyle and environmental factors, such as exercise, diet, or exposure to pollutants, also play a role. Colon cancer is an example.

Some genetic conditions are passed down through families (inherited) in one of several patterns, depending on the specific gene involved.

Patterns of inheritance can include:

• Dominant means you only need one changed gene to cause the condition.
• Recessive means you need two changed copies of the gene (one from each parent) for the condition to occur.
• X-linked conditions involve genes located on the X chromosome. These conditions often affect males more frequently.
• Mitochondrial conditions are passed down by the mother.

Your health care provider may check for a genetic condition based on:

• A physical examination.
• Your personal medical history.
• Your family health history.
• Laboratory tests, including genetic testing.

NIH: National Library of Medicine

Giant Cell Arteritis

Giant cell arteritis is a disorder that causes inflammation of your arteries, usually in the scalp, neck, and arms. It narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. Both are more common in women than in men. They almost always affect people over the age of 50.

Early symptoms of giant cell arteritis resemble the flu: fatigue, loss of appetite, and fever. Other symptoms include:

• Headaches
• Pain and tenderness over the temples
• Double vision or visual loss, dizziness
• Problems with coordination and balance
• Pain in your jaw and tongue

Your doctor will make the diagnosis based on your medical history, symptoms, and a physical exam. There is no specific test for giant cell arteritis, but you may have tests that measure inflammation.

Treatment is usually with corticosteroids. Early treatment is important; otherwise there is a risk of permanent vision loss or stroke. However, when properly treated, giant cell arteritis rarely comes back.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Health Risks of an Inactive Lifestyle

What is an inactive lifestyle?

Being a couch potato. Not exercising. A sedentary or inactive lifestyle. These all mean the same thing: a lifestyle with a lot of sitting and lying down, with very little or no exercise.

People are spending more time doing sedentary activities. During our leisure time, we are often sitting while using a computer or other device, watching TV, or playing video games. Many of our jobs have become more sedentary, with long days sitting at a desk or while commuting. And the way most of us get around involves sitting - in cars, on buses, and on trains.

When you have an inactive lifestyle:

• You burn fewer calories. This makes you more likely to gain weight
• You may lose muscle strength and endurance, because you are not using your muscles as much
• Your bones may get weaker and lose some mineral content
• Your metabolism may be affected, and your body may have more trouble breaking down fats and sugars
• Your immune system may not work as well
• You may have poorer blood circulation
• Your body may have more inflammation
• You may develop a hormonal imbalance

Having an inactive lifestyle can increase your risk of developing chronic (long-term) diseases. This is sometimes referred to as "sitting disease". By not getting regular exercise, you raise your risk of:

• Obesity
• Heart diseases, including coronary artery disease and heart attack
• High blood pressure
• High cholesterol
• Stroke
• Metabolic syndrome
• Type 2 diabetes
• Certain cancers, including colon, breast, and uterine cancers
• Osteoporosis and falls
• Increased feelings of depression and anxiety

Having a sedentary lifestyle can also raise your risk of premature death. And the more sedentary you are, the higher your health risks are.

If you have been inactive, you may need to start slowly. Your health care provider can help you choose the best type or amount of activity for you based on your fitness level and health. You can keep adding more exercise gradually. The more you can do, the better. But try not to feel overwhelmed and do what you can. Getting some exercise is always better than getting none. Eventually, your goal can be to get the recommended amount of exercise for your age and health.

There are many ways to get exercise; it is important to find the types that are best for you. You can also try to add activity to your life in smaller ways, such as at home and at work.

There are some ways you can be active around your house:

• Housework, gardening, and yard work are all physical work. To increase the intensity, you could try doing them at a more vigorous pace.
• Keep moving while you watch TV. Lift hand weights, do some gentle yoga stretches, or pedal an exercise bike.
• Work out at home with a workout video (on your TV or on the internet).
• Go for a walk in your neighborhood. It can be more fun if you walk your dog, walk your kids to school, or walk with a friend.
• Stand up when talking on the phone.
• Get some exercise equipment for your home. Treadmills and elliptical trainers are great, but not everyone has the money or space for one. Less expensive equipment such as yoga balls, exercise mats, stretch bands, and hand weights can help you get a workout at home too.

Most of us sit when we are working, often in front of a computer. It can be challenging to fit physical activity into your busy workday, but here are some tips to help you get moving:

• Get up from your chair and move around at least once an hour
• Park at the back of the parking lot
• Stand when you are talking on the phone or during a video conference
• Find out whether your company can get you a stand-up or treadmill desk
• Take the stairs instead of the elevator
• Use your break or part of your lunchtime to walk around the building
• Stand up and walk to a colleague's office instead of sending an email
• Have "walking" or standing meetings with co-workers instead of sitting in a conference room

The good news is that it's never too late to change your exercise habits. You can start slowly and find ways to fit more physical activity into your life. Regular exercise has many benefits and may help prevent or control many diseases.

Healthy Living

What is healthy living?

Healthy living means taking care of your body and mind by making choices that support your overall wellbeing. Many things affect your health. Some you can't control, like your genetic makeup or your age. But there are many daily habits you can change to help you feel your best.

Creating new healthy habits takes time, but small, steady changes are easier to maintain and can become part of your everyday routine.

Healthy living can help you feel better, boost your energy, and lower your risk for serious health problems such as heart disease, cancer, and stroke.

You don't have to change everything at once. Start with a few steps to build a foundation for a healthier lifestyle. These can include:

• Get the screening tests recommended for you, including those specific to women's health and men's health
• Stay up to date on vaccines to protect yourself from disease
• Maintain a healthy weight that's right for you
• Eat a variety of healthy foods, and limit calories, added sugar, and saturated fat
• Be physically active, even small amounts of exercise can be helpful
• Keep your blood pressure and cholesterol in a healthy range
• Don't smoke, or take steps to quit if you do
• Protect your skin from too much sun
• Limit alcohol, or choose not to drink at all
• Get enough sleep each night to help your body and mind recharge
• Manage stress and work on improving your mental health, such as by practicing meditation, relaxation techniques, or gratitude
• Protect yourself from sexually transmitted infections (STIs)
• Visit your health care provider regularly for checkups
• See your dentist and eye care specialist for routine care
• Stay connected with friends, family, or community groups, and do activities you enjoy

Healthy living is a lifelong journey. Over time, small steps can add up to big health benefits.

Healthy Sleep

What is sleep?

While you are sleeping your brain and body functions are still active. Sleep is a natural process that helps your body restore energy, supports learning and memory, and keeps you healthy.

During sleep, your brain cycles through different stages of non-rapid eye movement (non-REM) sleep and rapid eye movement (REM) sleep. Non-REM sleep has three stages that range from light to deep sleep, while REM sleep is when most dreaming occurs. During each stage, your brain waves, breathing, heart rate, and body temperature change throughout the night. Certain phases of sleep help you:

• Feel rested and energetic the next day.
• Learn new information, get insight, and form memories.
• Give your heart and blood vessels a rest.
• Release growth hormone, which helps children grow and assists in muscle repair and tissue healing for everyone.
• Release sex hormones, which contribute to puberty and fertility.
• Maintain a healthy balance of hormones that control hunger and fullness.
• Strengthen your immune system by producing cytokines (hormones that help the body fight infection).

You need all the stages to get a healthy sleep.

The amount of sleep you need depends on your age, lifestyle, health, and sleep patterns. The general recommendations for sleep are:

• Babies (4-12 months): 12-16 hours a day (including naps)
• Children (1-2 years): 11-14 hours a day (including naps)
• Children (3-5 years): 10-13 hours a day (including naps)
• Children (6-12 years): 9-12 hours a day
• Teens (13-18 years): 8-10 hours a day
• Adults (18 years and older): 7-9 hours a day

During puberty, teenagers' biological clocks shift. They tend to fall asleep later and wake up later, which can conflict with the early school start times. This is one reason many teenagers don't get enough sleep.

Some people think adults need less sleep as they age, but there is no evidence to support this. However, older adults often get less sleep or spend less time in the deep, restful stages of sleep. They also wake up more easily.

It's not just the number of hours of sleep you get that matters. The quality of the sleep you get is also important. People whose sleep is frequently interrupted might not get enough of certain stages of sleep. If you are wondering whether you are getting enough sleep, including quality sleep, ask yourself:

• Do I have trouble getting up in the morning?
• Do I have trouble focusing during the day?
• Do I doze off during the day?

If you answered yes to any of these questions, you may need to improve your sleep habits.

Sleep is important for overall health. When you don't get enough sleep (sleep deprivation), it does more than just make you feel tired. It can impair your ability to think clearly, react quickly, and form memories. This increases your risk of making mistakes, taking risks, or getting into accidents.

Sleep deprivation can also affect your mood, leading to:

• Irritability
• Problems with relationships, especially for children and teenagers
• Depression
• Anxiety

It can also affect your physical health. Not getting enough sleep, or getting poor-quality sleep, increases your risk of:

• High blood pressure
• Heart disease
• Stroke
• Kidney disease
• Obesity
• Type 2 diabetes

Not getting enough sleep can also lower your levels of hormones that help children grow and help the body build muscle, repair tissue, and fight infections.

Sleep deprivation also magnifies the effect of alcohol. A tired person who drinks too much alcohol will be more impaired than a well-rested person who drinks the same amount.

You can take steps to improve your sleep habits. First, make sure that you allow yourself enough time for sleep. Getting enough sleep each night may help you feel happier and more productive during the day.

To improve your sleep habits, it also may help to:

• Go to bed and wake up at the same time every day.
• Avoid caffeine, especially in the afternoon and evening.
• Avoid nicotine.
• Exercise regularly, but not too close to bedtime.
• Avoid alcoholic drinks before bed.
• Avoid large meals and drinks late at night.
• Don't take a nap after 3 p.m.
• Relax before bed by taking a bath, reading or listening to calm music.
• Keep your bedroom cool, dark, and quiet.
• Get rid of distractions such as TVs, computers, and phones.
• Get enough sunlight exposure during the day.
• If you can't fall asleep for 20 minutes, get up and do something relaxing.
• See a health care provider if you have continued trouble sleeping. You may have a sleep disorder, such as insomnia or sleep apnea. In some cases, your provider may suggest trying a sleep study or other treatments.

If you are a shift worker, getting good sleep can be more challenging. You may also want to:

• Take naps and extend your total sleep time
• Keep the lights bright at work
• Limit shift changes to help your body adjust
• Limit caffeine to the first part of your shift
• Remove sound and light distractions in your bedroom during daytime sleep (for example, use light-blocking curtains or earplugs)