ataxias

Friedreich ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include:

• Difficulty walking
• Muscle weakness
• Speech problems
• Involuntary eye movements
• Scoliosis (curving of the spine to one side)
• Heart palpitations, from the heart disease which can happen along with Friedreich ataxia

People with Friedreich ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy.

NIH: National Institute of Neurological Disorders and Stroke

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

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.

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.

Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include:

• Ataxia - trouble coordinating movements
• Poor balance
• Slurred speech
• Tiny, red spider veins, called telangiectasias, on the skin and eyes
• Lung infections
• Delayed physical and sexual development

People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence.

A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins.

NIH: National Institute of Neurological Disorders and Stroke

Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain.

Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy.

NIH: National Institute of Neurological Disorders and Stroke

If you are like most people, you walk thousands of steps each day. You walk to do your daily activities, get around, and exercise. It's something that you usually don't think about. But for those people who have a problem with walking, daily life can be more difficult.

Walking problems may cause you to:

• Walk with your head and neck bent over
• Drag, drop, or shuffle your feet
• Have irregular, jerky movements when walking
• Take smaller steps
• Waddle
• Walk more slowly or stiffly

The pattern of how you walk is called your gait. Many different diseases and conditions can affect your gait and lead to problems with walking. They include:

• Abnormal development of the muscles or bones of your legs or feet
• Arthritis of the hips, knees, ankles, or feet
• Cerebellar disorders, which are disorders of the area of the brain that controls coordination and balance
• Foot problems, including corns and calluses, sores, and warts
• Infections
• Injuries, such as fractures (broken bones), sprains, and tendinitis
• Movement disorders, such as Parkinson's disease
• Neurologic diseases, including multiple sclerosis and peripheral nerve disorders
• Vision problems

To make a diagnosis, your health care provider will ask about your medical history and do a physical exam. This will include checking your bones and muscles and doing a neurological exam. In some cases, you may have other tests, such as lab or imaging tests.

Treatment of walking problems depends on the cause. If the cause is a medical condition, treating that condition often improves your walking. Some common types of treatments for walking problems may include:

• Medicines
• Mobility aids such as walkers and canes
• Physical therapy
• Special shoes, insoles, splints, or braces
• Surgery

Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting.

With bone marrow disease, there are problems with the stem cells or how they develop:

• In leukemia, a cancer of the blood, the bone marrow makes abnormal white blood cells
• In aplastic anemia, the bone marrow doesn't make red blood cells
• In myeloproliferative disorders, the bone marrow makes too many white blood cells
• Other diseases, such as lymphoma, can spread into the bone marrow and affect the production of blood cells

Causes of bone marrow diseases include genetics and environmental factors. Tests for bone marrow diseases include blood and bone marrow tests. Treatments depend on the disorder and how severe it is. They might involve medicines, blood transfusions or a bone marrow transplant.

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

Leukemia is a term for cancers of the blood cells. Leukemia starts in blood-forming tissues such as the bone marrow. Your bone marrow makes the cells which will develop into white blood cells, red blood cells, and platelets. Each type of cell has a different job:

• White blood cells help your body fight infection
• Red blood cells deliver oxygen from your lungs to your tissues and organs
• Platelets help form clots to stop bleeding

When you have leukemia, your bone marrow makes large numbers of abnormal cells. This problem most often happens with white blood cells. These abnormal cells build up in your bone marrow and blood. They crowd out the healthy blood cells and make it hard for your cells and blood to do their work.

There are different types of leukemia. Some types are acute (fast growing). They usually get worse quickly if they are not treated. Most childhood leukemias are acute:

• Acute lymphocytic leukemia (ALL), which is the most common type of leukemia in children and the most common cancer in children. In ALL, the bone marrow makes too many lymphocytes, a type of white blood cell.
• Acute myeloid leukemia (AML), which happens when bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets.

Other types of leukemia are chronic (slow growing). They usually get worse over a longer period of time. They are rare in children:

• Chronic lymphocytic leukemia (CLL), in which the bone marrow makes abnormal lymphocytes (a type of white blood cell). It is more common in teens than children.
• Chronic myeloid leukemia (CML), in which the bone marrow makes abnormal granulocytes (a type of white blood cell). It is very rare in children.

There are some other rare types of leukemia in children, including juvenile myelomonocytic leukemia (JMML).

Leukemia happens when there are changes in the genetic material (DNA) in bone marrow cells. The cause of these genetic changes is unknown. However, there are certain factors that raise the risk of childhood leukemia.

The factors that raise the risk of childhood leukemia include:

• Having a brother or sister, especially a twin, with leukemia
• Past treatment with chemotherapy
• Exposure to radiation, including radiation therapy
• Having certain genetic conditions, such as
  • Ataxia telangiectasia
  • Down syndrome
  • Fanconi anemia
  • Li-Fraumeni syndrome
  • Neurofibromatosis type 1

There are other factors that may raise the risk of getting one or more of the specific types of childhood leukemia.

Some of the symptoms of leukemia may include:

• Feeling tired
• Fever or night sweats
• Easy bruising or bleeding
• Weight loss or loss of appetite
• Petechiae, which are tiny red dots under the skin. They are caused by bleeding.

Other leukemia symptoms can be different from type to type. Chronic leukemia may not cause symptoms at first.

Your health care provider may use many tools to diagnose leukemia:

• A physical exam
• A medical history
• Blood tests, such as a complete blood count (CBC)
• Bone marrow tests. There are two main types - bone marrow aspiration and bone marrow biopsy. Both tests involve removing a sample of bone marrow and bone. The samples are sent to a lab for testing.
• Genetic tests to look for gene and chromosome changes

Once there is a diagnosis of leukemia, other tests may be done to see whether the cancer has spread. These include imaging tests and a lumbar puncture, which is a procedure to collect and test cerebrospinal fluid (CSF).

The treatments for leukemia depend on which type it is, how severe the leukemia is, the child's age, and other factors. Possible treatments might include:

• chemotherapy
• radiation therapy
• Chemotherapy with stem cell transplant
• Targeted therapy, which uses drugs or other substances that attack specific cancer cells with less harm to normal cells

Treatment for childhood leukemia is often successful. But the treatments can cause complications right away or later in life. Children who survived leukemia will need follow-up care the rest of their lives to watch for and treat any complications they may have.

NIH: National Cancer Institute