brainstem

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

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.

It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They can often be helped. Deafness can keep you from hearing sound at all.

What causes hearing loss? Some possibilities are:

• Heredity
• Diseases such as ear infections and meningitis
• Trauma
• Certain medicines
• Long-term exposure to loud noise
• Aging

There are two main types of hearing loss. One happens when your inner ear or auditory nerve is damaged. This type is usually permanent. The other kind happens when sound waves cannot reach your inner ear. Earwax buildup, fluid, or a punctured eardrum can cause it. Treatment or surgery can often reverse this kind of hearing loss.

Untreated, hearing problems can get worse. If you have trouble hearing, you can get help. Possible treatments include hearing aids, cochlear implants, special training, certain medicines, and surgery.

NIH: National Institute on Deafness and Other Communication 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.

Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include:

• Visual disturbances
• Muscle weakness
• Trouble with coordination and balance
• Sensations such as numbness, prickling, or "pins and needles"
• Thinking and memory problems

No one knows what causes MS. It may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak, or walk.

There is no specific test for MS. Doctors use a medical history, physical exam, neurological exam, MRI, and other tests to diagnose it. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help.

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

Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as :

• Pain and weakness in the back, shoulders, arms or legs
• Headaches
• Inability to feel hot or cold

Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood.

Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment.