myopathies
Muscle Disorders
Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis.
Causes of muscle disorders include:
- Injury or overuse, such as sprains or strains, cramps or tendinitis
- A genetic disorder, such as muscular dystrophy
- Some cancers
- Inflammation, such as myositis
- Diseases of nerves that affect muscles
- Infections
- Certain medicines
Sometimes the cause of muscle disorders is unknown.
Muscular Dystrophy
What is muscular dystrophy (MD)?
Muscular dystrophy (MD) is a group of more than 30 genetic diseases. They cause weakness of the muscles. Over time, the weakness gets worse and can cause trouble walking and doing daily activities. Some types of MD can also affect other organs.
What are the types of muscular dystrophy (MD)?
There are many different types of MD. Some of the more common types include:
- Duchenne muscular dystrophy, which is the most common childhood form. It is severe and affects boys more often than girls. The symptoms usually start between ages 3 and 6.
- Becker muscular dystrophy, which is similar to Duchenne but is less severe and gets worse more slowly. It often starts in the teenage years.
- Congenital muscular dystrophies, which are present at birth or before age 2. They can be mild or severe.
- Facioscapulohumeral muscular dystrophy, which often starts in the teenage years. At first, it affects the muscles of the face, shoulders, and upper arms.
Each of the types of MD can be different in many ways, such as:
- Who is more likely to get them
- Which muscles they affect
- When they appear, such as in infancy, childhood, middle age, or later
- What the symptoms are
- How serious the symptoms are
- How quickly they get worse
- Whether they run in families
- Whether they affect other organs
Even within the same type of MD, people can have different symptoms.
What causes muscular dystrophy (MD)?
MD is genetic, meaning that it caused by a change in one or more genes. Gene changes are also called gene variants or mutations. The gene changes in MD affect proteins that strengthen and protect muscles.
There are different gene changes that cause each type of MD. And sometimes people who have the same type of MD can have different gene changes.
Muscular dystrophy can run in families, or you can be the first in your family to have a muscular dystrophy.
How is muscular dystrophy (MD) diagnosed?
To find out if you or your child has MD, your health care provider may use:
- A medical and family history
- A physical exam
- Blood and urine tests, including genetic tests and tests for certain enzymes that may be released by damaged muscles
- Muscle biopsies
- Electromyography and nerve conduction studies to find out if muscles are responding the right way to nerve signals
- Heart testing, such as an electrocardiogram (EKG), since some types of MD can cause heart problems
- Exercise tests to measure muscle strength and breathing and detect any increased rates of certain chemicals following exercise
- Imaging tests such as an MRI to look at muscle quality and bulk and measure fatty replacement of muscle tissue
What are the treatments for muscular dystrophy (MD)?
There is no cure for muscular dystrophy. Treatment can help with the symptoms and prevent complications. It usually includes a combination of therapies, such as:
- Physical therapy to help keep muscles flexible and strong
- Occupational therapy to relearn lost motor skills and learn ways to work around weakened muscles
- Respiratory care, such as breathing exercises, oxygen therapy, and ventilators
- Speech therapy to help with speech and swallowing problems
- Assistive devices, such as wheelchairs, splints and braces, and walkers
- Medicines to help delay damage to muscles or minimize the symptoms of MD
- Surgery to treat some of the conditions associated with MD, such as heart problems, scoliosis, and cataracts
NIH: National Institute of Neurological Disorders and Stroke
Myositis
Myositis means inflammation of the muscles that you use to move your body. An injury, infection, or autoimmune disease can cause it. Two specific kinds are polymyositis and dermatomyositis. Polymyositis causes muscle weakness, usually in the muscles closest to the trunk of your body. Dermatomyositis causes muscle weakness, plus a skin rash.
Other symptoms of myositis may include:
- Fatigue after walking or standing
- Tripping or falling
- Trouble swallowing or breathing
Doctors may use a physical exam, lab tests, imaging tests and a muscle biopsy to diagnose myositis. There is no cure for these diseases, but you can treat the symptoms. Polymyositis and dermatomyositis are first treated with high doses of a corticosteroid. Other options include medications, physical therapy, exercise, heat therapy, assistive devices, and rest.
NIH: National Institute of Neurological Disorders and Stroke
Neuromuscular Disorders
Neuromuscular disorders affect your neuromuscular system. They can cause problems with:
- The nerves that control your muscles
- Your muscles
- Communication between your nerves and muscles
These disorders can cause your muscles to become weak and waste away. You may also have symptoms such as spasms, twitching, and pain.
Examples of neuromuscular disorders include:
- Amyotrophic lateral sclerosis
- Muscular dystrophy
- Myasthenia gravis
- Spinal muscular atrophy
There can be different causes for these diseases. Many of them are genetic.This means they are inherited (run in families) or are caused by a new mutation in your genes. Some neuromuscular disorders are autoimmune diseases. Sometimes the cause is unknown.
Many neuromuscular diseases have no cure. But treatments may improve symptoms, increase mobility, and lengthen life.
Cardiomyopathy
Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue.
Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including:
- Heart failure
- Abnormal heart rhythms
- Heart valve problems
- Sudden cardiac arrest (SCA)
Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes.
NIH: National Heart, Lung, and Blood Institute
Cerebellar Disorders
When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. Problems with the cerebellum include:
- Cancer
- Genetic disorders
- Ataxias - failure of muscle control in the arms and legs that result in movement disorders
- Degeneration - disorders caused by brain cells decreasing in size or wasting away
Treatment of cerebellar disorders depends on the cause. In some cases, there is no cure but treatment may help with symptoms.
NIH: National Institute of Neurological Disorders and Stroke
Dementia
What is dementia?
Dementia is a loss of mental functions that is severe enough to affect your daily life and activities. These functions include:
- Memory
- Language skills
- Visual perception (your ability to make sense of what you see)
- Problem solving
- Trouble with everyday tasks
- The ability to focus and pay attention
It is normal to become a bit more forgetful as you age. But dementia is not a normal part of aging. It is a serious disorder which interferes with your daily life.
What are the types of dementia?
The most common types of dementia are known as neurodegenerative disorders. These are diseases in which the cells of the brain stop working or die. They include:
- Alzheimer's disease, which is the most common form of dementia among older people. People with Alzheimer's have plaques and tangles in their brain. These are abnormal buildups of different proteins. Beta-amyloid protein clumps up and forms plaques in between your brain cells. Tau protein builds up and forms tangles inside the nerve cells of your brain. There is also a loss of connection between nerve cells in the brain.
- Lewy body dementia, which causes movement symptoms along with dementia. Lewy bodies are abnormal deposits of a protein in the brain.
- Frontotemporal disorders, which cause changes to certain parts of the brain:
- Changes in the frontal lobe lead to behavioral symptoms
- Changes in the temporal lobe lead to language and emotional disorders
- Vascular dementia, which involves changes to the brain's blood supply. It is often caused by a stroke or atherosclerosis (hardening of the arteries) in the brain.
- Mixed dementia, which is a combination of two or more types of dementia. For example, some people have both Alzheimer's disease and vascular dementia.
Other conditions can cause dementia or dementia-like symptoms, including:
- Creutzfeldt-Jakob disease, a rare brain disorder
- Huntington's disease, an inherited, progressive brain disease
- Chronic traumatic encephalopathy (CTE), caused by repeated traumatic brain injury
- HIV-associated dementia (HAD)
Who is at risk for dementia?
Certain factors can raise your risk for developing dementia, including:
- Aging. This is the biggest risk factor for dementia.
- Smoking
- Uncontrolled diabetes
- High blood pressure
- Drinking too much alcohol
- Having close family members who have dementia
What are the symptoms of dementia?
The symptoms of dementia can vary, depending on which parts of the brain are affected. Often, forgetfulness is the first symptom. Dementia also causes problems with the ability to think, problem solve, and reason. For example, people with dementia may:
- Get lost in a familiar neighborhood
- Use unusual words to refer to familiar objects
- Forget the name of a close family member or friend
- Forget old memories
- Need help doing tasks that they used to do by themselves
Some people with dementia cannot control their emotions and their personalities may change. They may become apathetic, meaning that they are no longer interested in normal daily activities or events. They may lose their inhibitions and stop caring about other peoples' feelings.
Certain types of dementia can also cause problems with balance and movement.
The stages of dementia range from mild to severe. In the mildest stage, it is just beginning to affect a person's functioning. In the most severe stage, the person is completely dependent on others for care.
How is dementia diagnosed?
Your health care provider may use many tools to make a diagnosis:
- A medical history, which includes asking about your symptoms
- A physical exam
- Tests of your thinking, memory, and language abilities
- Other tests, such as blood tests, genetic tests, and brain scans
- A mental health evaluation to see whether a mental disorder is contributing to your symptoms
What are the treatments for dementia?
There is no cure for most types of dementia, including Alzheimer's disease and Lewy body dementia. Treatments may help to maintain mental function longer, manage behavioral symptoms, and slow down the symptoms of disease. They may include:
- Medicines may temporarily improve memory and thinking or slow down their decline. They only work in some people. Other medicines can treat symptoms such as anxiety, depression, sleep problems, and muscle stiffness. Some of these medicines can cause strong side effects in people with dementia. It is important to talk to your health care provider about which medicines will be safe for you.
- Occupational therapy to help find ways to more easily do everyday activities
- Speech therapy to help with swallowing difficulties and trouble speaking loudly and clearly
- Mental health counseling to help people with dementia and their families learn how to manage difficult emotions and behaviors. It can also help them plan for the future.
- Music or art therapy to reduce anxiety and improve well-being
Can dementia be prevented?
Researchers have not found a proven way to prevent dementia. Living a healthy lifestyle might influence some of your risk factors for dementia.
Hyperthyroidism
What is hyperthyroidism?
Hyperthyroidism, or overactive thyroid, happens when your thyroid gland makes more thyroid hormones than your body needs.
Your thyroid is a small, butterfly-shaped gland in the front of your neck. It makes hormones that control the way the body uses energy. These hormones affect nearly every organ in your body and control many of your body's most important functions. For example, they affect your breathing, heart rate, weight, digestion, and moods. If not treated, hyperthyroidism can cause serious problems with your heart, bones, muscles, menstrual cycle, and fertility. But there are treatments that can help.
What causes hyperthyroidism?
Hyperthyroidism has several causes. They include:
- Graves' disease, an autoimmune disorder in which your immune system attacks your thyroid and causes it to make too much hormone. This is the most common cause.
- Thyroid nodules, which are growths on your thyroid. They are usually benign (not cancer). But they may become overactive and make too much thyroid hormone. Thyroid nodules are more common in older adults.
- Thyroiditis, inflammation of the thyroid. It causes stored thyroid hormone to leak out of your thyroid gland.
- Too much iodine. Iodine is found in some medicines, cough syrups, seaweed and seaweed-based supplements. Taking too much of them can cause your thyroid to make too much thyroid hormone.
- Too much thyroid medicine. This can happen if people who take thyroid hormone medicine for hypothyroidism (underactive thyroid) take too much of it.
Who is at risk for hyperthyroidism?
You are at higher risk for hyperthyroidism if you:
- Are a woman
- Are older than age 60
- Have been pregnant or had a baby within the past 6 months
- Have had thyroid surgery or a thyroid problem, such as goiter
- Have a family history of thyroid disease
- Have pernicious anemia, in which the body cannot make enough healthy red blood cells because it does not have enough vitamin B12
- Have type 1 diabetes or primary adrenal insufficiency, a hormonal disorder
- Get too much iodine, from eating large amounts of foods containing iodine or using iodine-containing medicines or supplements
What are the symptoms of hyperthyroidism?
The symptoms of hyperthyroidism can vary from person to person and may include:
- Nervousness or irritability
- Fatigue
- Muscle weakness
- Trouble tolerating heat
- Trouble sleeping
- Tremor, usually in your hands
- Rapid and irregular heartbeat
- Frequent bowel movements or diarrhea
- Weight loss
- Mood swings
- Goiter, an enlarged thyroid that may cause your neck to look swollen. Sometimes it can cause trouble with breathing or swallowing.
Adults over age 60 may have different symptoms than younger adults. For example, they may lose their appetite or withdraw from other people. Sometimes this can be mistaken for depression or dementia.
What other problems can hyperthyroidism cause?
If hyperthyroidism isn't treated, it can cause some serious health problems, including:
- An irregular heartbeat that can lead to blood clots, stroke, heart failure, and other heart problems
- An eye disease called Graves' ophthalmopathy. It can cause double vision, light sensitivity, and eye pain. In rare cases, it can lead to vision loss.
- Thinning bones and osteoporosis
- Fertility problems in women
- Complications in pregnancy, such as premature birth, low birth weight, high blood pressure in pregnancy, and miscarriage
How is hyperthyroidism diagnosed?
Your health care provider may use many tools to make a diagnosis:
- A medical history, including asking about symptoms
- A physical exam
- Thyroid tests, such as
- TSH, T3, T4, and thyroid antibody blood tests
- Imaging tests, such as a thyroid scan, ultrasound, or radioactive iodine uptake test. A radioactive iodine uptake test measures how much radioactive iodine your thyroid takes up from your blood after you swallow a small amount of it.
What are the treatments for hyperthyroidism?
The treatments for hyperthyroidism include medicines, radioiodine therapy, and thyroid surgery:
- Medicines for hyperthyroidism include
- Antithyroid medicines, which cause your thyroid to make less thyroid hormone. You probably need to take the medicines for 1 to 2 years. In some cases, you might need to take the medicines for several years. This is the simplest treatment, but it is often not a permanent cure.
- Beta blocker medicines, which can reduce symptoms such as tremors, rapid heartbeat, and nervousness. They work quickly and can help you feel better until other treatments take effect.
- Radioiodine therapy is a common and effective treatment for hyperthyroidism. It involves taking radioactive iodine by mouth as a capsule or liquid. This slowly destroys the cells of the thyroid gland that produce thyroid hormone. It does not affect other body tissues. Almost everyone who has radioactive iodine treatment later develops hypothyroidism. This is because the thyroid hormone-producing cells have been destroyed. But hypothyroidism is easier to treat and causes fewer long-term health problems than hyperthyroidism.
- Surgery to remove part or most of the thyroid gland is done in rare cases. It might be an option for people with large goiters or pregnant women who cannot take antithyroid medicines. If you have all of your thyroid removed, you will need to take thyroid medicines for the rest of your life. Some people who have part of their thyroid removed also need to take medicines.
If you have hyperthyroidism, it's important not to get too much iodine. Talk to your health care provider about which foods, supplements, and medicines you need to avoid.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Lipid Metabolism Disorders
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.
Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal.
These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.
Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications.
Movement Disorders
Movement disorders are neurologic conditions that cause problems with movement, such as:
- Increased movement that can be voluntary (intentional) or involuntary (unintended)
- Decreased or slow voluntary movement
There are many different movement disorders. Some of the more common types include:
- Ataxia, the loss of muscle coordination
- Dystonia, in which involuntary contractions of your muscles cause twisting and repetitive movements. The movements can be painful.
- Huntington's disease, an inherited disease that causes nerve cells in certain parts of the brain to waste away. This includes the nerve cells that help to control voluntary movement.
- Parkinson's disease, which is disorder that slowly gets worse over time. It causes tremors, slowness of movement, and trouble walking.
- Tourette syndrome, a condition which causes people to make sudden twitches, movements, or sounds (tics)
- Tremor and essential tremor, which cause involuntary trembling or shaking movements. The movements may be in one or more parts of your body.
Causes of movement disorders include:
- Genetics
- Infections
- Medicines
- Damage to the brain, spinal cord, or peripheral nerves
- Metabolic disorders
- Stroke and vascular diseases
- Toxins
Treatment varies by disorder. Medicines can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.