leukoencephalopathy

Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord. Leukodystrophies damage the white matter of your CNS. The white matter includes:

• Nerve fibers, also called axons, which connect your nerve cells
• Myelin, a layer of proteins and fatty materials that covers and protects the nerve fibers. It also helps speed up signals between the nerve cells.

When the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking.

There are over 50 types of leukodystrophies. Some types are present at birth, while others may not cause symptoms until a child becomes a toddler. A few types mainly affect adults. Most types get worse over time.

Leukodystrophies are caused by genetic changes. These changes are usually inherited, meaning that they are passed from parent to child.

The symptoms of leukodystrophies depend on the type; they can include a gradual loss of:

• Muscle tone
• Balance and mobility
• Walking
• Speech
• Ability to eat
• Vision
• Hearing
• Behavior

There can also be other symptoms, such as:

• Learning disabilities
• Bladder issues
• Breathing problems
• Developmental disabilities
• Muscle control disorders
• Seizures

Leukodystrophies can be hard to diagnose because there are so many different types which can have different symptoms. Your health care provider may use many tools to make a diagnosis:

• Physical and neurological exams
• A medical history, including asking about family history
• Imaging tests, such as an MRI or CT scan
• Genetic testing to look for genetic changes that could cause leukodystrophies
• Lab tests

There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include:

• Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)
• Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems
• Nutritional therapy for eating and swallowing problems
• Educational and recreational programs

Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy.

One type of leukodystrophy, CTX, is treatable if it is diagnosed early. It is treated with chenodeoxycholic acid (CDCA) replacement therapy.

NIH: National Institute of Neurological Disorders and Stroke

Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. Sometimes the cause is a medical condition such as alcoholism, a tumor, or a stroke. Other causes may include toxins, chemicals, and viruses. Sometimes the cause is unknown.

Degenerative nerve diseases include:

• Alzheimer's disease
• Amyotrophic lateral sclerosis
• Friedreich ataxia
• Huntington's disease
• Lewy body disease
• Parkinson's disease
• Spinal muscular atrophy

Degenerative nerve diseases can be serious or life-threatening. It depends on the type. Most of them have no cure. Treatments may help improve symptoms, relieve pain, and increase mobility.

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 that interferes with your daily life.

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)

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

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.

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

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, which 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

Researchers have not found a proven way to prevent dementia. Living a healthy lifestyle might influence some of your risk factors for dementia.

Having HIV weakens your body's immune system. It destroys the white blood cells that fight infection. This puts you at risk for opportunistic infections (OIs). OIs are serious infections that take advantage of your weak immune system. These infections are less common and less severe in healthy people.

People who have AIDS, the most severe stage of HIV infection, have badly damaged immune systems. This puts them especially at risk for OIs. Getting certain OIs is one of the ways that people can get diagnosed with AIDS.

OIs are becoming less common in people with HIV because of effective HIV medicines. But some people with HIV still develop OIs for different reasons:

• They may not know they have HIV, so they aren't getting treatment for it
• They know that they have HIV but are not taking treatment
• Their HIV treatment may not be working properly

There are many types of OIs:

• Bacterial infections, including tuberculosis, Salmonella infection"/>, and Mycobacterium avium complex"/> (MAC)
• Viral infections, such as cytomegalovirus (CMV) and herpes simplex virus 1 (HSV-1)
• Fungal infections, like yeast infections, Pneumocystis carinii pneumonia"/> (PCP), and histoplasmosis
• Parasitic infections, such as cryptosporidiosis and toxoplasmosis

Having HIV can make infections harder to treat. People with HIV are also more likely to have complications from common illnesses such as the flu.

If you develop an OI, there are treatments available such as antiviral, antibiotic, and antifungal drugs. The type of medicine your health care provider prescribes will depend on which OI you have.

After the OI has been successfully treated, you may still need to take the same medicine or another medicine to prevent the OI from coming back.

The best way to prevent OIs infections is by taking your HIV medicines. Other steps you can take to help prevent OIs include:

• Avoiding exposure to contaminated food and water:
  • Don't undercooked eggs, unpasteurized dairy products or fruit juices, or raw seed sprouts
  • Don't drink water directly from a lake or river
• Talking to your provider about medicines and vaccines that prevent certain OIs
• Preventing exposure to other sexually transmitted infections (STIs) by using condoms every time you have sex
• Washing your hands thoroughly with warm, soapy water after any contact with human or animal feces (poop)
• Not sharing needles, syringes, or other drug injection equipment

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 a disorder that slowly gets worse over time. It causes tremors, slowness of movement, and trouble walking.
• Tourette syndrome, a condition that 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.

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol.

Bone diseases can make bones easy to break. Different kinds of bone problems include:

• Low bone density and osteoporosis, which make your bones weak and more likely to break
• Osteogenesis imperfecta makes your bones brittle
• Paget's disease of bone makes them weak
• Bones can also develop cancer and infections
• Other bone diseases, which are caused by poor nutrition, genetics, or problems with the rate of bone growth or rebuilding

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.

Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.

Some examples of genetic brain disorders include:

• Leukodystrophies
• Phenylketonuria
• Tay-Sachs disease
• Wilson disease

Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.

A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Ischemic stroke is the more common type. It is usually caused by a blood clot that blocks or plugs a blood vessel in the brain. This keeps blood from flowing to the brain. Within minutes, brain cells begin to die. Another cause is stenosis, or narrowing of the artery. This can happen because of atherosclerosis, a disease in which plaque builds up inside your arteries. Transient ischemic attacks (TIAs) occur when the blood supply to the brain is interrupted briefly. Having a TIA can mean you are at risk for having a more serious stroke.

Symptoms of stroke are:

• Sudden numbness or weakness of the face, arm or leg (especially on one side of the body)
• Sudden confusion, trouble speaking or understanding speech
• Sudden trouble seeing in one or both eyes
• Sudden trouble walking, dizziness, loss of balance or coordination
• Sudden severe headache with no known cause

It is important to treat strokes as quickly as possible. Blood thinners may be used to stop a stroke while it is happening by quickly dissolving the blood clot. Post-stroke rehabilitation can help people overcome disabilities caused by stroke damage.

NIH: National Institute of Neurological Disorders and Stroke

A stroke happens when there is a loss of blood flow to part of the brain. Your brain cells cannot get the oxygen and nutrients they need from blood, and they start to die within a few minutes. This can cause lasting brain damage, long-term disability, or even death.

If you think that you or someone else is having a stroke, call 911 right away. Immediate treatment may save someone's life and increase the chances for successful rehabilitation and recovery.

There are two types of stroke:

• Ischemic stroke is caused by a blood clot that blocks or plugs a blood vessel in the brain. This is the most common type; about 80% of strokes are ischemic.
• Hemorrhagic stroke is caused by a blood vessel that breaks and bleeds into the brain

Another condition that's similar to a stroke is a transient ischemic attack (TIA). It's sometimes called a "mini-stroke." TIAs happen when the blood supply to the brain is blocked for a short time. The damage to the brain cells isn't permanent, but if you have had a TIA, you are at a much higher risk of having a stroke.

Certain factors can raise your risk of a stroke. The major risk factors include:

• High blood pressure. This is the primary risk factor for a stroke.
• Diabetes.
• Heart diseases.Atrial fibrillation and other heart diseases can cause blood clots that lead to stroke.
• Smoking. When you smoke, you damage your blood vessels and raise your blood pressure.
• A personal or family history of stroke or TIA.
• Age. Your risk of stroke increases as you get older.
• Race and ethnicity. African Americans have a higher risk of stroke.

There are also other factors that are linked to a higher risk of stroke, such as:

• Alcohol and illegal drug use
• Not getting enough physical activity
• High cholesterol
• Unhealthy diet
• Having obesity

The symptoms of stroke often happen quickly. They include:

• Sudden numbness or weakness of the face, arm, or leg (especially on one side of the body)
• Sudden confusion, trouble speaking, or understanding speech
• Sudden trouble seeing in one or both eyes
• Sudden difficulty walking, dizziness, loss of balance or coordination
• Sudden severe headache with no known cause

If you think that you or someone else is having a stroke, call 911 right away.

To make a diagnosis, your health care provider will:

• Ask about your symptoms and medical history
• Do a physical exam, including a check of
  • Your mental alertness
  • Your coordination and balance
  • Any numbness or weakness in your face, arms, and legs
  • Any trouble speaking and seeing clearly
• Run some tests, which may include
  • Diagnostic imaging of the brain, such as a CT scan or MRI
  • Heart tests, which can help detect heart problems or blood clots that may have led to a stroke. Possible tests include an electrocardiogram (EKG) and an echocardiography.

Treatments for stroke include medicines, surgery, and rehabilitation. Which treatments you get depend on the type of stroke and the stage of treatment. The different stages are:

• Acute treatment, to try to stop a stroke while it is happening
• Post-stroke rehabilitation, to overcome the disabilities caused by the stroke
• Prevention, to prevent a first stroke or, if you have already had one, prevent another stroke

Acute treatments for ischemic stroke are usually medicines:

• You may get tPA, (tissue plasminogen activator), a medicine to dissolve the blood clot. You can only get this medicine within 4 hours of when your symptoms started. The sooner you can get it, the better your chance of recovery.
• If you cannot get that medicine, you may get medicine that helps stop platelets from clumping together to form blood clots. Or you may get a blood thinner to keep existing clots from getting bigger.
• If you have carotid artery disease, you may also need a procedure to open your blocked carotid artery

Acute treatments for hemorrhagic stroke focus on stopping the bleeding. The first step is to find the cause of bleeding in the brain. The next step is to control it:

• If high blood pressure is the cause of bleeding, you may be given blood pressure medicines.
• If an aneurysm if the cause, you may need aneurysm clipping or coil embolization. These are surgeries to prevent further leaking of blood from the aneurysm. It also can help prevent the aneurysm from bursting again.
• If an arteriovenous malformation (AVM) is the cause of a stroke, you may need an AVM repair. An AVM is a tangle of faulty arteries and veins that can rupture within the brain. An AVM repair may be done through
  • Surgery
  • Injecting a substance into the blood vessels of the AVM to block blood flow
  • Radiation to shrink the blood vessels of the AVM

Stroke rehabilitation can help you relearn skills you lost because of the damage. The goal is to help you become as independent as possible and to have the best possible quality of life.

Prevention of another stroke is also important, since having a stroke increases the risk of getting another one. Prevention may include heart-healthy lifestyle changes and medicines.

If you have already had a stroke or are at risk of having a stroke, you can make some heart-healthy lifestyle changes to try to prevent a future stroke:

• Eating a heart-healthy diet
• Aiming for a healthy weight
• Managing stress
• Getting regular physical activity
• Quitting smoking
• Managing your blood pressure and cholesterol levels

If these changes aren't enough, you may need medicine to control your risk factors.

NIH: National Institute of Neurological Disorders and Stroke