Neuromuscular disorders

What is myasthenia gravis?

Myasthenia gravis is a type of autoimmune disorder. An autoimmune disorder occurs when the immune system mistakenly attacks healthy tissue. In people with myasthenia gravis, the body produces antibodies that block the muscle cells from receiving messages (neurotransmitters) from the nerve cell.

The exact cause of myasthenia gravis is unknown. In some cases, it may be associated with tumors of the thymus (an organ of the immune system). Myasthenia gravis can affect people at any age. It is most common in young women and older men.

Symptoms

Myasthenia gravis causes weakness of the voluntary (skeletal) muscles. The muscle weakness can lead to a variety of symptoms, including:

• Breathing difficulty because of weakness of the chest wall muscles
• Chewing or swallowing difficulty, causing frequent gagging, choking or drooling
• Difficulty climbing stairs, lifting objects, or rising from a seated position
• Difficulty talking
• Drooping head
• Facial paralysis or weakness of the facial muscles
• Fatigue
• Hoarseness or changing voice
• Double vision
• Difficulty maintaining a steady gaze
• Eyelid drooping

Diagnosis

To diagnose myasthenia gravis, your doctor will perform a physical exam, including a detailed nervous system (neurological) examination. This may show muscle weakness (eye muscles are usually affected first). Reflexes and feeling (sensation) may be normal.
We may also perform the following tests:

• Acetylcholine receptor antibodies associated with this disease
• CT or MRI scan of the chest to look for a tumor
• Nerve conduction studies
• Electromyography (EMG)

Treatment

There is no known cure for myasthenia gravis. However, treatment may allow prolonged periods without symptoms (remission).

Lifestyle changes often help you continue your daily activities. We may recommend the following:

• Schedule rest periods.
• Get an eye patch if double vision is bothersome.
• Avoid stress and heat exposure, which can make symptoms worse.

We may also prescribe medications, including:

• Neostigmine or pyridostigmine to improve the communication between the nerves and the muscles
• Prednisone and other medications (such as azathioprine, cyclosporine, or mycophenolate mofetil) to suppress the immune system response, if you have severe symptoms and other medicines have not worked well

What is carpal tunnel syndrome?

Carpal tunnel syndrome is a condition in which there is pressure on the median nerve—the nerve in the wrist that supplies feeling and movement to parts of the hand. It can lead to numbness, tingling, weakness, or muscle damage in the hand and fingers.

Carpal tunnel syndrome is common in people who perform repetitive motions of the hand and wrist. Typing on a computer keyboard is probably the most common cause of carpal tunnel. Other causes include:

• Driving
• Painting
• Playing some musical instruments
• Playing sports such as racquetball or handball
• Sewing
• Using tools (especially hand tools or tools that vibrate)
• Working on an assembly line
• Writing

The condition occurs most often in people age 30 to 60 years old, and is more common in women than men.

Symptoms

Some symptoms of carpal tunnel syndrome include:

• Clumsiness of the hand when gripping objects
• Numbness or tingling in the thumb and next two or three fingers of one or both hands
• Numbness or tingling of the palm of the hand
• Pain extending to the elbow
• Pain in the wrist or hand in one or both hands
• Problems with fine finger movements (coordination) in one or both hands
• Wasting away of the muscle under the thumb (in advanced or long-term cases)
• Weak grip or difficulty carrying bags (a common complaint)
• Weakness in one or both hands

Diagnosis

During a physical examination, your doctor may find:

• Numbness in the palm, thumb, index finger, middle finger, and thumb side of the ring finger
• Weak hand grip
• Tapping over the median nerve at the wrist may cause pain to shoot from the wrist to the hand (this is called Tinel's sign)
• Bending the wrist forward all the way for 60 seconds will usually result in numbness, tingling or weakness (this is called Phalen's test)

Diagnostic tests for carpal tunnel syndrome may include:

• Electromyography
• Nerve conduction velocity
• Wrist X-rays should be done to rule out other problems (such as wrist arthritis)

Treatment

To treat carpal tunnel syndrome, your doctor may recommend you try wearing a splint at night for several weeks. If this does not help, you may need to try wearing the splint during the day. Avoid sleeping on your wrists. Hot and cold compresses may also be recommended.

There are also changes you can make in the workplace to reduce stress on your wrist:

• Use special devices, including keyboards, different types of computer mouse, cushioned mouse pads, and keyboard drawers.
• Someone should review the position you are in when performing your work activities. For example, make sure the keyboard is low enough so that your wrists aren't bent upward while typing.

Medications used in the treatment of carpal tunnel syndrome include nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen or naproxen. Corticosteroid injections, given into the carpal tunnel area, may relieve symptoms for a period of time.

Carpal tunnel release is a surgical procedure that cuts into the ligament that is pressing on the nerve. Surgery is successful most of the time, but surgery as a treatment option depends on how long the nerve compression has been occurring and its severity.

Expectations (prognosis)

Symptoms often improve with treatment, but more than 50 percent of cases eventually require surgery. While surgery is often successful, full healing can take months.

What is neuropathy?

Peripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body. Peripheral neuropathy means these nerves don't work properly. Peripheral neuropathy may be damage to a single nerve, or to a nerve group. It may also affect nerves in the whole body.

Diabetes is the most common cause of this type of nerve problem. It happens when you have high blood sugar levels over a long time.

Other medical problems that may cause neuropathy are:

• Autoimmune disorders, rheumatoid arthritis or lupus
• Chronic kidney disease
• Infections such as HIV and liver infections
• Low levels of vitamin B12 or other problems with your diet
• Poor blood flow to the legs
• Underactive thyroid gland

Symptoms

Symptoms of neuropathy depend on the nerve that is damaged. Symptoms also depend on whether the damage affects one nerve, several nerves, or the whole body.

• Pain and numbness – Tingling or burning in the arms and legs may be an early sign of nerve damage. These feelings often start in your toes and feet. You may have deep pain. This often happens in the feet and legs. You may lose feeling in your legs and arms.
• Muscle problems – Damage to the nerves can make it harder to control muscles. It can also cause weakness. You may notice problems moving a part of your body. You may fall because your legs buckle. You may trip over your toes.
• Problems with body organs – People with nerve damage may have problems digesting food. You may feel full or bloated and have heartburn after eating only a little food. Sometimes you may vomit food that has not been digested well. You may have either loose stools or hard stools. Some people have problems swallowing. Damage to the nerves to your heart may cause you to feel lightheaded, or faint, when you stand up.
• Sexual problems – Men may have problems with erections. Women may have trouble with vaginal dryness or orgasm.
• Problems regulating blood sugar – Some people may not be able to tell when their blood sugar gets too low.
• Bladder problems – You may leak urine. You may not be able to tell when your bladder is full. Some people are not able to empty their bladder.
• You may sweat too much – This may happen when the temperature is cool, when you are at rest, or at other unusual times.

Diagnosis

To diagnose neuropathy, your doctor may:

• Complete a careful health history.
• Perform a physical exam.
• Provide blood tests to look for causes of nerve damage.
• Perform other tests to check activity in the muscles, see how fast signals travel along nerves, and look at a sample of a nerve under a microscope.

Treatment

Your doctor may recommend the following treatment options for neuropathy:

• Treating the cause of nerve damage, if it is known, may improve symptoms. People with diabetes should learn to control their blood sugar.
• You may need surgery to stop injury to a nerve.
• Rehabilitation therapy can provide exercises that improve muscle strength and control. Wheelchairs, braces and splints may improve movement or the ability to use an arm or leg with nerve damage.
• Certain medications may help to reduce pain in the feet, legs and arms. Medicines used to treat other medical problems, such as seizures or depression, can also help you manage pain. Using the lowest dose possible helps to avoid side effects. Keep in mind that medicine usually does not bring back loss of feeling.
• Your medications may need to be changed. Replacing a vitamin or making other changes in your diet may help. If you use alcohol, stop.
• Talk therapy may help you better understand how your pain is affecting your life. It can also help you learn ways to better cope with pain.

What is radiculopathy?

Radiculopathy is a condition that can occur anywhere in the spine, but most commonly occurs in the lower back and neck. Radiculopathy is caused by the compression of a nerve in the spine that creates pain, numbness, tingling or weakness in the nerve. People who experience excessive or repetitive loads on the spine, like athletes in contact sports or heavy laborers, are more likely to develop radiculopathy.

The compression of the nerve is typically caused by a disk herniation, bone spur or the thickening of surrounding ligaments. Less likely causes include tumor, infection, or scoliosis, an abnormal curvature of the spine.

Symptoms

Low back or neck pain can feel very different. It may feel like a mild tingling, dull ache, or a burning or pulsating pain. In some cases, the pain is severe enough that you are unable to move. You may also have numbness.

The pain most often occurs on one side of the body.

• With a slipped disk in your lower back, you may have sharp pain in one part of the leg, hip or buttocks and numbness in other parts. You may also feel pain or numbness on the back of the calf or sole of the foot. The same leg may also feel weak.
• With a slipped disk in your neck, you may have pain when moving your neck, deep pain near or over the shoulder blade, or pain that moves to the upper arm, forearm, or (rarely) fingers. You can also have numbness along your shoulder, elbow, forearm and fingers.

The pain often starts slowly. It may get worse:

• After standing or sitting
• At night
• When sneezing, coughing or laughing
• When bending backwards or walking more than a few yards

You may also have weakness in certain muscles. Sometimes, you may not notice it until your doctor examines you. In other cases, you will notice that you have a hard time lifting your leg or arm, standing on your toes on one side, squeezing tightly with one of your hands, or other problems.

The pain, numbness or weakness will often go away or improve over a period of weeks to months.

Diagnosis

A careful physical exam and history is almost always the first step to diagnosing radiculopathy. Depending on where you have symptoms, your doctor will examine your neck, shoulder, arms, and hands, or your lower back, hips, legs and feet.

Your doctor will check:

• For numbness or loss of feeling
• Your muscle reflexes, which may be slower or missing
• Your muscle strength, which may be weaker
• Your posture, or the way your spine curves

Your doctor may use the following diagnostic tests:

• EMG may determine the exact nerve root that is involved.
• Myelogram may determine the size and location of disk herniation.
• Nerve conduction velocity test may detect signs of nerve damage.
• Spine MRI or spine CT will show that the herniated disk is pressing on the spinal canal.
• Spine X-ray may rule out other causes of back or neck pain. However, it is not possible to diagnose a herniated disk by a spine X-ray alone.

Treatment

The first treatment for a slipped disk is a short period of rest with medications for the pain, followed by physical therapy. Most people who follow these treatments will recover and return to their normal activities.

A small number of people will need to have more treatment, which may include steroid injections or surgery. Specific treatment options for radiculopathy include:

• Medications – People who have a sudden herniated disk caused by injury (such as a car accident or lifting a very heavy object) will likely get nonsteroidal anti-inflammatory medications (NSAIDs) and narcotic painkillers if they have severe pain in the back and leg. If you have back spasms, you will usually receive muscle relaxants.
• Diet and exercise are crucial to improving back pain if you are overweight.
• Physical therapy is important for nearly everyone with disk disease. Our therapists will tell you how to properly lift, dress, walk, and perform other activities. They will work on strengthening the muscles that help support the spine. You will also learn how to increase flexibility in your spine and legs.
• Steroid injections into the back in the area of the herniated disk may help control pain for several months. These injections reduce swelling around the disk and relieve many symptoms. Spinal injections are usually done in your doctor's office, using X-ray or fluoroscopy to find the area where the injection is needed.
• Surgery may be an option for the few patients whose symptoms do not go away with other treatments and time.

Most people will improve with treatment. However, you may have back pain even after treatment. It may take several months to a year or more to go back to all of your activities without having pain or straining your back.

What is sciatica?

Sciatica refers to pain, weakness, numbness or tingling in the leg. It is caused by injury to or pressure on the sciatic nerve. Sciatica is a symptom of another medical problem, not a medical condition on its own.

Sciatica occurs when there is pressure or damage to the sciatic nerve. This nerve starts in the lower spine and runs down the back of each leg. This nerve controls the muscles of the back of the knee and lower leg and provides sensation to the back of the thigh, part of the lower leg, and the sole of the foot.

Common causes of sciatica include:

• Slipped disk
• Piriformis syndrome (a pain disorder involving the narrow muscle in the buttocks)
• Pelvic injury or fracture
• Tumors

Symptoms

Sciatica pain can vary widely. It may feel like a mild tingling, dull ache, or a burning sensation. In some cases, the pain is severe enough to make a person unable to move.

The pain most often occurs on one side. Some people have sharp pain in one part of the leg or hip and numbness in other parts. The pain or numbness may also be felt on the back of the calf or on the sole of the foot. The affected leg may feel weak.

Sciatica pain often starts slowly. It may get worse:

• After standing or sitting
• At night
• When sneezing, coughing or laughing
• When bending backwards or walking more than a few yards, especially if caused by spinal stenosis

Diagnosis

To diagnose sciatica, your doctor will perform a physical exam. This may show:

• Weakness of knee bending or foot movement
• Difficulty bending the foot inward or down
• Abnormal or weak reflexes
• Loss of sensation or numbness
• Pain when lifting the leg straight up off the examining table

Your doctor may conduct additional tests to determine suspected causes. These tests, which are often not needed unless pain is severe or long lasting, may include:

• Blood tests
• X-rays
• MRIs or other imaging tests

Treatment

Because sciatica is a symptom of another medical condition, the underlying cause should be identified and treated. In some cases, no treatment is required and recovery occurs on its own. Conservative treatment is best in many cases.

Your doctor may recommend the following steps to calm your symptoms and reduce inflammation:

• Apply heat or ice to the painful area. Try ice for the first 48-72 hours, then use heat after that.
• Take over-the-counter pain relievers such as ibuprofen (Advil, Motrin IB) or acetaminophen (Tylenol).

Your doctor may also recommend exercising at home:

• Reduce your activity for the first couple of days. Then, slowly start your usual activities after that.
• Avoid heavy lifting or twisting of your back for the first six weeks after the pain begins.
• Start exercising again after 2-3 weeks, including exercises to strengthen your abdomen and improve flexibility of your spine.

If at-home measures do not help, your doctor may recommend injections to reduce inflammation around the nerve, as well as other medicines to help reduce the stabbing pains associated with sciatica. Physical therapy may also help. Additional treatments depend on the condition that is causing the sciatica.

Nerve pain is very difficult to treat. If you have ongoing problems with pain, you may want to see a neurologist or a pain specialist to ensure that you have access to the widest range of treatment options.

What is amyotrophic lateral sclerosis (ALS)?

Amyotrophic lateral sclerosis, or ALS, is a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement. ALS is also known as Lou Gehrig's disease. In about 10 percent of cases, ALS is caused by a genetic defect. In the remaining cases, the cause is unknown.

In ALS, nerve cells (neurons) waste away or die, and can no longer send messages to muscles. This eventually leads to muscle weakening, twitching, and an inability to move the arms, legs, and body. The condition slowly gets worse. When the muscles in the chest area stop working, it becomes hard or impossible to breathe on your own.

ALS affects approximately 5 out of every 100,000 people worldwide. There are no known risk factors, except for having a family member who has a hereditary form of the disease.

Symptoms

Symptoms usually do not develop until after age 50, but they can start in younger people. Persons with ALS have a loss of muscle strength and coordination that eventually gets worse and makes it impossible to do routine tasks such as going up steps, getting out of a chair, or swallowing.

Breathing or swallowing muscles may be the first muscles affected. As the disease gets worse, more muscle groups develop problems.

ALS does not affect the senses (sight, smell, taste, hearing, touch). It only rarely affects bladder or bowel function, or a person's ability to think or reason.

Symptoms include:

• Difficulty breathing
• Difficulty swallowing
  
  • Choking easily
  • Drooling
  • Gagging
• Head drop due to weakness of the neck muscles
• Muscle cramps
• Muscle contractions called fasciculations
• Muscle weakness that slowly gets worse
  
  • Commonly involves one part of the body first, such as the arm or hand
  • Eventually leads to difficulty lifting, climbing stairs, and walking
• Paralysis
• Speech problems, such as a slow or abnormal speech pattern (slurring of words)
• Voice changes, hoarseness
• Weight loss

Diagnosis

To diagnose ALS, your doctor will take a medical history, which includes strength and endurance.

A physical examination of strength shows weakness, often beginning in one area. There may be muscle tremors, spasms, twitching, or loss of muscle tissue (atrophy).

The person's walk may be stiff or clumsy. Reflexes are abnormal. There are increased reflexes at the joints, but there may be a loss of the gag reflex. Some patients have trouble controlling crying or laughing. This is sometimes called "emotional incontinence."

Tests that may be done include:

• Blood tests to rule out other conditions
• Breathing test to see if lung muscles are affected
• Cervical spine CT or MRI to be sure there is no disease or injury to the neck, which can mimic ALS
• Electromyography to see which nerves do not work properly
• Genetic testing (if there is a family history of ALS)
• Head CT or MRI to rule out other conditions
• Nerve conduction studies
• Swallowing studies
• Spinal tap (lumbar puncture)

Treatment

There is no known cure for ALS. The first drug treatment for the disease is a medicine called riluzole, which slows the disease progression and prolongs life.

Treatments to control symptoms are also helpful:

• Baclofen or diazepam may be used to control spasticity that interferes with daily activities.
• Trihexyphenidyl or amitriptyline may be prescribed for people with problems swallowing their own saliva.

Physical therapy, rehabilitation, use of braces or a wheelchair, or other orthopedic measures may be needed to maximize muscle function and general health.

Over time, people with ALS progressively lose the ability to function and care for themselves. Death often occurs within 3 - 5 years of diagnosis. About 25 percent of patients survive for more than 5 years after diagnosis.

What is Guillain-Barre syndrome?

Guillain-Barre syndrome is a serious disorder that occurs when the body's defense (immune) system mistakenly attacks part of the nervous system. This leads to nerve inflammation that causes muscle weakness and other symptoms.

Exactly what triggers Guillain-Barre syndrome is unknown. The syndrome may occur at any age, but is most common in people of both sexes between ages 30 and 50.

It often follows a minor infection, such as a lung infection or gastrointestinal infection. Most of the time, signs of the original infection have disappeared before the symptoms of Guillain-Barre begin. It may also appear a few days or weeks after a surgery.

Guillain-Barre syndrome damages parts of nerves. This nerve damage causes tingling, muscle weakness, and paralysis. Guillain-Barre syndrome most often affects the nerve's covering (myelin sheath). Such damage is called demyelination, and it causes nerve signals to move more slowly. Damage to other parts of the nerve can cause the nerve to stop working altogether.

Symptoms

Typical Guillain-Barre symptoms include:

• Loss of reflexes in the arms and legs
• Low blood pressure or poor blood pressure control
• Muscle weakness or loss of muscle function (paralysis)
• Numbness
• Sensation changes, including pain and tingling
• Tenderness or muscle pain (may be a cramp-like pain)
• Uncoordinated movement (cannot walk without help)

Symptoms of Guillain-Barre can get worse very quickly. It may take only a few hours to reach the most severe symptoms, but weakness that increases over several days is also common.

Muscle weakness or the loss of muscle function (paralysis) affects both sides of the body. In most cases, the muscle weakness starts in the legs and then spreads to the arms. This is called ascending paralysis. Patients may notice tingling, foot or hand pain, and clumsiness. If the inflammation affects the nerves to the diaphragm and chest and there is weakness in those muscles, the person may need breathing assistance.

Diagnosis

A medical exam may show muscle weakness and problems with involuntary (autonomic) body functions, such as blood pressure and heart rate. The examination will also show that reflexes, such as the "ankle or knee jerk," are decreased or missing.

There may be signs of decreased breathing caused by paralysis of the breathing muscles.

Your doctor may order the following tests to diagnose Guillain-Barre:

• Cerebrospinal fluid sample ("spinal tap")
• ECG
• Electromyography (EMG) tests the electrical activity in muscles
• Nerve conduction velocity test
• Pulmonary function tests

Treatment

There is no cure for Guillain-Barre syndrome. However, many treatments are available to help reduce symptoms, treat complications, and speed up recovery.

In the early stages of the illness, treatments that remove or block the proteins that attack the nerve cells, called antibodies, may reduce the severity and duration of Guillain-Barre symptoms. When symptoms are severe, you will need to go to the hospital for treatment, which may include artificial breathing support.

Recovery can take weeks, months or years. Most people survive and recover completely, while mild weakness may persist for some people.

According to the National Institute of Neurological Disorders and Stroke, about 30 percent of patients still have some weakness after three years. A patient's outcome is most likely to be very good when the symptoms go away within three weeks after they first started.