Autoimmune disease affecting joints

Autoimmune Disorders of the Joints, Muscles, and Nerves

Autoimmune disorders occur when the body’s own immune system goes haywire and starts attacking healthy tissue. Because more than 80 different types of diseases exist that are autoimmune in nature, symptoms may affect organs and tissues throughout the body. For that reason, these conditions are often categorized according to the affected areas.

Autoimmune disorders of the muscles, joints, and nerves include polymyalgia rheumatica, rheumatoid arthritis, and multiple sclerosis. Fibromyalgia is also often categorized with these disorders, though it has yet to be officially classified as an autoimmune disorder.

Polymyalgia Rheumatica

Like many autoimmune disorders that affect the muscles, polymyalgia rheumatica causes symptoms of pain and stiffness, typically in the neck, shoulder, arms, or hip areas. Polymyalgia rheumatica usually occurs in people over the age of 50, and women are twice as likely as men to develop the disorder.

Patients with this disorder may also have signs of inflammatory arthritis. Moreover, polymyalgia rheumatica sometimes appears at the same time as, or right before, a condition called temporal arteritis, which inflames blood vessels. More often than not, however, polymyalgia rheumatica occurs alone and predominately in caucasians. Denmark and Sweden are the countries with the highest rates of polymyalgia rheumatica.

Multiple Sclerosis

Commonly referred to as MS, multiple sclerosis is an autoimmune disorder that affects the central nervous system — the brain and spinal cord. MS involves injury to the protective covering that surrounds nerve cells. This protective covering is called the myelin sheath, which when damaged, causes nerve impulses to slow down. This is why MS is considered an autoimmune condition — the body’s immune system is what attacks the myelin sheath, through inflammation.

MS symptoms vary in severity from person to person, ranging from limb numbness to paralysis. The disease is considered progressive, meaning it gets worse over time, but the rate of progression also is widely variable. The cause of MS remains unknown, but most research points to a virus or a genetic defect.

More women than men, and more whites than blacks, have MS, and it is most commonly diagnosed between the ages of 20 and 40. According to the National Multiple Sclerosis Society, about 400,000 people have MS in the United States, and more than 2.5 million people are affected worldwide.

Rheumatoid Arthritis (RA)

This form of arthritis, unlike osteoarthritis, is autoimmune in nature. When the body’s immune system attacks itself, inflammation results, which causes joint linings to thicken, leading to pain and swelling. If RA goes untreated, the inflammation can become so severe that it causes bone damage or deformities. The joints most commonly affected are those of the:

  • Wrists
  • Fingers
  • Knees
  • Feet
  • Ankles

Joint pain and swelling are the signature symptoms of RA, but it can also affect other organs throughout the body. RA patients may also experience fatigue, general weakness, flu-like symptoms, loss of appetite, depression, weight loss, anemia, and cold or sweaty hands and feet. Advanced RA can make those with the disorder more susceptible to infections.

In the United States, an estimated 1.3 million people have RA. Onset typically occurs between ages 30 and 50, but even children can get the disease — a version known as juvenile rheumatoid arthritis, or JRA. Seventy percent of RA cases are in women, but men who have RA tend to be more severely affected.

Fibromyalgia

To much of the medical community, fibromyalgia remains a mystery. It has not been officially categorized as an autoimmune condition, but it is sometimes put in that category because it frequently occurs in patients with other diseases that cause musculoskeletal symptoms, including rheumatoid arthritis and lupus, which are both autoimmune disorders.

The main symptom of fibromyalgia is chronic, widespread pain in the muscles, joints, and other soft tissues. Fibromyalgia patients also have:

  • Fatigue
  • Trouble sleeping
  • Depression
  • Anxiety

Although the pain experienced by fibromyalgia patients can be excruciating, lab tests typically come back with no clear abnormalities. This has left doctors and researchers puzzled, leading to theories that fibromyalgia might be caused by sleep disturbances, or that it may be a result of decreased blood flow. Others have hypothesized that fibromyalgia is a viral condition, while some preliminary research hints at a genetic cause.

An estimated three to six million people in the United States have fibromyalgia symptoms, with the majority of patients being female, between the ages of 20 and 50.

Myositis

What is myositis?

Myositis (my-o-SY-tis) is a rare type of autoimmune disease that inflames and weakens muscle fibers. Autoimmune diseases occur when the body’s own immune system attacks itself. In the case of myositis, the immune system attacks healthy muscle tissue, which results in inflammation, swelling, pain, and eventual weakness. When there is no skin involvement, it is called polymyositis. When there is skin involvement, it is called dermatomyositis.

The areas of the body affected by myositis may differ from patient to patient. Most often, myositis involves the muscles in the upper arms and thighs, which can cause difficulty raising arms above the head and rising from a chair. Some people may also experience symptoms in their lungs, such as difficulty breathing, while others may have difficulty swallowing. Women are more than twice as likely to be diagnosed as men, with most patients between ages of 30 and 60 when first diagnosed. In patients younger than 20 years old, the disease is referred to as juvenile myositis and may be treated differently.

Over time, myositis symptoms may continue to worsen until everyday tasks, like climbing stairs or carrying groceries, become difficult. These symptoms develop gradually and though there is no cure, treatments are available to retain muscle strength and function. It is important to work with your rheumatologist to delay myositis complications as long as possible. Depending on whether your lungs or esophagus are affected, you may experience some of the following symptoms or physical findings:

  • Breathing difficulty ranges from shortness of breath to respiratory failure.
  • Rashes may develop over the knuckles, around the fingernails, around the nose and cheeks, and on the chest, in addition to other areas. In the presence of a typical myositis related rash, the diagnosis is referred to as dermatomyositis. Skin involvement can sometimes be quite severe.
  • Calcinosis means that over time, calcium deposits form in your muscles, skin, and connective tissues which can be painful and lead to infections.
  • Swallowing difficulty including weight loss and malnutrition or aspirating food or liquids into your lungs can lead to pneumonia.

Myositis frequently occurs with other conditions, which share similar symptoms or affected organs. For example, people with myositis may have other autoimmune conditions like lupus or rheumatoid arthritis. They can also experience Raynaud’s disease (this is a blanching of the fingers when exposed to the cold). Depending on how long the myositis symptoms have occurred and which muscles are affected, heart muscle or lung tissue can also become inflamed, leading to poor health consequences like heart arrhythmias and interstitial lung disease.

What causes myositis?

The specific causes of myositis are unknown. There are characteristics in common with other autoimmune disorders that may help researchers determine specific causes. Research has identified some causal pathways, including:

Virus Trigger: Some patients have been exposed to a virus like HTLV-1 or the Coxsackie B virus prior to developing myositis symptoms. This does not mean that either virus causes the disease; the patient was likely to develop an autoimmune disorder anyway, but and the virus may have been the trigger that initiated the symptoms.

Drug Trigger: Some patients with myositis were exposed to drugs such as penicillamine, interferon-alpha, cimetidine, carbimazole, phenytoin, growth hormone, and hepatitis B vaccine. These drugs treat a range of conditions from ulcers to cancer and do not otherwise have anything in common. Whether they truly cause myositis remains unclear.

Genetic Trigger: The specific genes that put a person at risk for myositis have not been identified, but there may be genetic factors that increase the likelihood in some patients for myositis to occur. There is also on-going research into the blood mixing between mother and fetus that could possibly create risk for myositis in either the mother or child later in life.

What are the symptoms of myositis?

You should contact your physician if you experience unexplainable weakness in the muscles closest to the middle of your body (such as your thighs, hips, shoulders, neck, back, or forearms). Specific symptoms include:

  • Gradual, worsening weakness that develops over a period of weeks or months
  • Difficulty rising from a seated position or reaching above your head
  • Difficulty swallowing
  • Joint pain
  • General, unexplained fatigue

How is myositis diagnosed?

A myositis diagnosis involves multiple tests. Your physician will ask you questions about your muscle weakness symptoms. It is worthwhile to take a moment before your appointment and write down when you first noticed your symptoms. Do you notice anything that makes it worse (or better)? Do any of your immediate family members have an autoimmune disease? Your doctor will also ask you for a detailed description of your past medical history and any conditions you currently have or treatments that are in process.

If your physician suspects that your muscle weakness may be myositis, he or she may order tests that could include:

  • Blood test: to determine whether you have elevated muscle enzymes such as creatine kinase (CK) and aldolase, which can indicate muscle damage. Blood tests also indicate specific autoantibodies which are associated with polymyositis. If these autoantibodies are found in your blood, they will help determine which subtype of myositis you have.
  • Electromyography: a test to measure electrical activity in muscles
  • Muscle biopsy: used to look for damage, infection, inflammation, or abnormal changes

How is myositis treated?

There is no cure for myositis, but there are a number of different treatments that improve your muscle strength and function. Starting treatment as soon as you first discover symptoms can minimize the complications you experience and slow or stop the course of the disease. Your rheumatologist will help determine the best treatment or treatment strategy:

Therapy

Depending on the type and severity of your symptoms, your doctor may prescribe the following therapies:

  • Physical therapy: Strength training exercises help maintain strength and improve flexibility.
  • Speech therapy: Myositis can weaken muscles around your vocal chords and impact speech; a speech therapist can help.
  • Diet changes: Myositis can affect the esophagus as well as jaw muscles. Registered dieticians can advise you on which foods provide the most nutrition with the least difficulty chewing and swallowing.
  • Emotional support: An autoimmune disease support group or counseling can support you and your emotional needs as you manage your health.

Medications

Myositis treatments include prescription and over-the-counter medications, such as anti-inflammatories, steroids, and other immunosuppressants.

Other Treatments

After trying other therapies, your rheumatologist may recommend intravenous immunoglobulin (IVIg), an IV treatment that contains healthy antibodies collected from thousands of blood donors. It is an expensive treatment that needs to be repeated regularly to maintain its effects and block the myositis muscle damage from occurring. Another potential treatment is rituximab, an antibody that depletes B cells, which make the antibodies that damage muscles. Clinical trials of other agents are currently in progress.

Inflammatory Myopathies Fact Sheet

What are the inflammatory myopathies?

The inflammatory myopathies are a group of diseases that involve chronic (long-standing) muscle inflammation, muscle weakness, and, in some cases, muscle pain. Myopathy is a general medical term used to describe a number of conditions affecting the muscles. All myopathies cause muscle weakness.

The four main types of chronic, or long-term, inflammatory myopathies are:

  • polymyositis
  • dermatomyositis
  • inclusion body myositis
  • necrotizing autoimmune myopathy

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What causes these disorders?

Myositis, or general muscle inflammation, may be caused by:

  • autoimmune disorders in which the immune system attacks muscle
  • an allergic reaction following exposure to a toxic substance or medicine
  • a virus or other infectious organism such as bacteria or fungi

Although the cause of many inflammatory myopathies is unknown, the majority are considered to be autoimmune disorders, in which the body’s immune response system that normally defends against infection and disease attacks its own muscle fibers, blood vessels, connective tissue, organs, or joints.

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Who is at risk?

The inflammatory myopathies are rare and can affect both adults and children. Dermatomyositis is the most common chronic form in children. Polymyositis and dermatomyositis are more common in females while inclusion body myositis affects more men. Inclusion body myositis usually affects individuals over age 50.

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What are the signs and symptoms?

General symptoms of chronic inflammatory myopathy include slow but progressive muscle weakness. Inflammation damages the muscle fibers, which causes weakness, and may affect the arteries and blood vessels that pass through muscle. Other symptoms include fatigue after walking or standing, frequent episodes of tripping or falling, and difficulty swallowing or breathing. Some individuals may have muscle pain or muscles that are tender to touch.

  • Polymyositis affects skeletal muscles (the type involved in body movement) on both sides of the body. It is rarely seen in persons younger than age 20. Generally, the onset occurs between age 30 and 60.
    Signs and symptoms of polymyositis vary considerably from person to person, which can make it difficult to diagnose. Untreated progressive muscle weakness may lead to difficulty swallowing, speaking, rising from a sitting position, climbing stairs, lifting objects, or reaching overhead. Some people with polymyositis may also develop arthritis, shortness of breath, heart arrhythmias (irregular heartbeats), or congestive heart failure (when the heart is no longer able to pump out enough oxygen-rich blood).
  • Dermatomyositis is characterized by a skin rash that precedes or accompanies progressive muscle weakness. The rash appears patchy, with purple or red discolorations, and characteristically develops on the eyelids and on muscles used to extend or straighten joints, including knuckles, elbows, knees, and toes. Red rashes may also occur on the face, neck, shoulders, upper chest, back, and other locations. There may be swelling in the affected areas. The rash sometimes occurs without obvious muscle involvement and often becomes more evident with sun exposure.
    Adults with dermatomyositis may experience weight loss or a low-grade fever, have inflamed lungs, and be sensitive to light. Adult dermatomyositis, unlike polymyositis, may accompany tumors of the breast, lung, female genitalia, or bowel. Children and adults with dermatomyositis may develop calcium deposits, which appear as hard bumps under the skin or in the muscle (called calcinosis). Calcinosis most often occurs one to three years after disease onset but may occur many years later. These deposits are seen more often in childhood dermatomyositis than in dermatomyositis that begins in adulthood.
    In some cases of polymyositis and dermatomyositis, distal muscles, which are the muscles away from the center of the body, such as those in the forearms and around the ankles and wrists), may be affected as the disease progresses. Polymyositis and dermatomyositis may be associated with collagen-vascular or autoimmune diseases such as lupus. Polymyositis may also be associated with infectious disorders such as HIV, which causes AIDS.
  • Inclusion body myositis (IBM) is the most common form of inflammatory myopathy in people age 50 years and older and is characterized by slow, progressive muscle weakness and wasting over the course of months or years. IBM affects both proximal and distal muscles, typically in the thighs and forearms, and is often occurs on both sides of the body, although muscle weakness may affect only one side of the body. It also includes features of muscle degeneration with multi-protein aggregates (clumps) in the muscle that can contain toxins seen in Alzheimer’s disease and other neurodegenerative diseases.

Falling and tripping are usually the first noticeable symptoms. The disorder often begins with weakness in the wrists and fingers that causes difficulty with pinching, buttoning, and gripping objects. People may experience weakness in their wrist and finger muscles and atrophy (thinning or loss of muscle bulk) in their forearm muscles and quadriceps muscles in the thighs. Difficulty swallowing occurs in approximately half of IBM cases due to involvement of the throat muscles.
Symptoms of the disease usually begin after the age of 50, although the disease can occur earlier. Unlike polymyositis and dermatomyositis, IBM occurs more frequently in men than in women.

  • Necrotizing autoimmune myopathy (NAM) is a rare and relatively newly recognized subgroup of inflammatory myopathies. NAM can occur at any age but usually affects adults. Its symptoms are similar to polymyositis and dermatomyositis, with weakness in both the upper and lower body, difficulty rising from low chairs, climbing stairs, or lifting objects. However, the onset of these symptoms can be more severe and sudden, reaching their peak over a period of days or weeks. Other symptoms include fatigue, weight loss, and muscle pain.
    NAM occurs alone or after viral infections, in association with cancer, in people with connective-tissue disorders such as scleroderma, or, rarely, in people taking cholesterol lowering medications (statins). Muscle weakness and pain may continue to worsen even after individuals stop taking the drugs.
  • Childhood inflammatory myopathies have some similarities to adult dermatomyositis and polymyositis. They typically affect children ages 2 to 15 years. Symptoms include proximal muscle weakness and inflammation, edema (an abnormal collection of fluids within body tissues that causes swelling), muscle pain, fatigue, skin rashes, abdominal pain, fever and contractures. Contractures result from shortening of muscles or tendons around joints, are caused by inflammation in the muscle tendons, and prevent the joints from moving freely.
    Children with inflammatory myopathies may have difficulty swallowing and breathing. The heart may also be affected. Between 20 to 40 percent of children with juvenile dermatomyositis develop calcinosis, which can cause significant muscle weakness and pain, joint contracture, skin ulcers, and decreased muscle bulk.

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How are the inflammatory myopathies diagnosed?

Diagnosis is based on medical history, results of a physical examination that includes tests of muscle strength, and blood samples that show elevated levels of various muscle enzymes and autoantibodies. Diagnostic tools include:

  • electromyography to record the electrical activity generated by muscles during contraction and at rest
  • ultrasound to look for muscle inflammation
  • magnetic resonance imaging to reveal abnormal muscle anatomy.

A biopsy sample of muscle tissue should be examined for signs of chronic inflammation, muscle fiber death, vascular deformities, or other changes specific to the diagnosis of a particular type of inflammatory myopathy. A skin biopsy can show changes in the skin associated with dermatomyositis.

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How are these disorders treated?

Chronic inflammatory myopathies cannot be cured in most adults but many of the symptoms can be treated. Options include:

  • medication
  • physical therapy
  • exercise
  • heat therapy
  • orthotics and assistive devices
  • rest

Dermatomyositis, polymyositis, and necrotizing autoimmune myopathy are first treated with high doses of corticosteroid drugs, such as prednisone. This is most often given as an oral medication but can be delivered intravenously.

Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in individuals who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can increase the chance for recovery in individuals with dermatomyositis, polymyositis, or NAM. Other immunosuppressive agents that may treat the inflammation associated with dermatomyositis and polymyositis include cyclosporine A, cyclophosphamide, mycophenolate mofetil, and tacrolimus.

Injections of adrenocorticotropic hormone gel may be another option for people who do not respond to or cannot tolerate other drug treatment options. Biologic therapies such as rituximab or tumor necrosis factor (TNF) inhibitors such as infliximab or etanercept may be used in severe cases where other treatment options have failed. However, there are very few studies that have shown how well these agents treat polymyositis and dermatomyositis.

Physical therapy is usually recommended to prevent muscle atrophy as well as to maintain muscle strength and range of motion. Bed rest for an extended period of time should be avoided, as people may develop muscle atrophy, decreased muscle function, and joint contractures. A low-sodium diet may help to reduce edema (swelling) and cardiovascular (heart and blood vessel) complications. Occupational therapy can include an assessment of daily activities to address tasks such as feeding, bathing, and dressing.

Many individuals with dermatomyositis may need a topical ointment such as corticosteroids, tacrolimus, or pimecrolimus for their skin disorder. They should wear a high-protection sunscreen and protective clothing, particularly those who are light-sensitive. In rare instances, surgery may be required to remove calcium deposits that cause nerve pain and recurrent infections.

There is no standard, evidence-based course of treatment for inclusion body myositis. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs. Some evidence suggests that immunosuppressive medications or intravenous immunoglobulin may have a slight, but short-lasting, beneficial effect in a small number of cases. Physical therapy may be helpful in maintaining mobility. Other therapy is symptomatic and supportive.

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What is the prognosis for these diseases?

In most cases, the symptoms of dermatomyositis resolve with therapy. The disease is usually more severe and resistant to therapy in individuals with heart problems. Approximately one-third of individuals with juvenile-onset dermatomyositis recover from their illness, one-third have a relapsing-remitting course of disease, and the other third have a more chronic course of illness.

The prognosis for polymyositis varies. Most individuals respond fairly well to therapy, but some people have a more severe disease that does not. These individuals may have significant disability. Since polymyositis can cause difficulty swallowing, people can become malnourished. They are also at increased risk for falling, which can lead to hip and other bone fractures, disability, or death. In rare cases people with severe and progressive muscle weakness can develop respiratory failure or pneumonia.

Although necrotizing autoimmune myopathy is more difficult to treat than polymyositis and dermatomyositis, it generally responds well to long-term combination immunosuppressive therapies.

IBM is generally resistant to all therapies and currently available treatments do little to slow its progression.

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What research is being done?

The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world.

The NINDS, along with other agencies within the National Institutes of Health (NIH), conducts and supports a wide range of research on neuromuscular disorders, including myositis and the inflammatory myopathies. The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) is the primary funding institute for these efforts.

One challenge in treating inflammatory myopathies is that, for some individuals, there is little direct relationship between muscle inflammation and the degree of weakness and disability. While inflammation can be slowed or reversed, muscle weakness may not respond to treatments. NIH researchers are working to identify the causes of muscle weakness in order to discover effective treatments. In addition, researchers are working to develop objective, imaging-based methods for describing the muscle damage associated with inflammatory muscle disease.

This goal of this project is to study how genetic diversity of complement contributes to higher risk and disease processes in different forms of muscle diseases with inflammation

Additionally, NIH-funded researchers are studying childhood-onset polymyositis and dermatomyositis to learn more about their causes, immune system changes throughout the course of the disease, and associated medical problems. For example, scientists are studying the role of genetics in the development of juvenile dermatomyositis. Researchers are examining the genetic differences between sets of twins in order to identify the relationship between genes and dermatomyositis that may lead to potential new treatment methods for the condition.

Currently, there are no therapies approved by the U.S. Food and Drug Administration for diagnosing inflammatory myopathies. NIH-funded researchers are looking for better, less invasive ways of diagnosing these disorders. For example, researchers are developing a non-invasive test that diagnoses IBM using circulating RNA molecules in the blood or urine. Researchers hope that this test will help clinicians identify individuals with IBM and assist them in monitoring their responses to clinical therapeutic trials.

Other NIH-funded researchers are studying the genetic diversity disease susceptibility in the inflammatory myopathies. Researchers from the National Institute of Environmental Health Sciences (NIEHS) are evaluating possible contributing causes, including dietary supplements, tobacco smoke, and infectious agents. Other researchers are also investigating the impact of certain drugs on muscle inflammation. For example, NIH researchers are exploring the impact of autoimmune muscle disease triggered by statins.

More information about research on myositis and the inflammatory myopathies supported by NINDS and other NIH Institutes and Centers may be found using NIH RePORTER (projectreporter.nih.gov), a searchable database of current and past research projects supported by NIH and other Federal agencies. RePORTER also includes links to publications and resources from these projects.

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Where can I get more information?

For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
800-352-9424

Information also is available from the following organizations:

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“Inflammatory Myopathies Fact Sheet”, NINDS, Publication date September 2017.

NIH Publication No. 11-5321

Back to Inflammatory Myopathies Information Page

See a list of all NINDS disorders

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Miopatías inflamatorias

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient’s medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Overview of Nervous System Disorders

What is the nervous system?

The nervous system is a complex, sophisticated system that regulates and coordinates body activities. It is made up of two major divisions, including the following:

  • Central nervous system. This consists of the brain and spinal cord.

  • Peripheral nervous system. This consists of all other neural elements, including the peripheral nerves and the autonomic nerves.

In addition to the brain and spinal cord, principal organs of the nervous system include the following:

  • Eyes

  • Ears

  • Sensory organs of taste

  • Sensory organs of smell

  • Sensory receptors located in the skin, joints, muscles, and other parts of the body

What are some disorders of the nervous system?

The nervous system is vulnerable to various disorders. It can be damaged by the following:

  • Trauma

  • Infections

  • Degeneration

  • Structural defects

  • Tumors

  • Blood flow disruption

  • Autoimmune disorders

Disorders of the nervous system

Disorders of the nervous system may involve the following:

  • Vascular disorders, such as stroke, transient ischemic attack (TIA), subarachnoid hemorrhage, subdural hemorrhage and hematoma, and extradural hemorrhage

  • Infections, such as meningitis, encephalitis, polio, and epidural abscess

  • Structural disorders, such as brain or spinal cord injury, Bell’s palsy, cervical spondylosis, carpal tunnel syndrome, brain or spinal cord tumors, peripheral neuropathy, and Guillain-Barré syndrome

  • Functional disorders, such as headache, epilepsy, dizziness, and neuralgia

  • Degeneration, such as Parkinson disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS), Huntington chorea, and Alzheimer disease

Signs and symptoms of nervous system disorders

The following are the most common general signs and symptoms of a nervous system disorder. However, each individual may experience symptoms differently. Symptoms may include:

  • Persistent or sudden onset of a headache

  • A headache that changes or is different

  • Loss of feeling or tingling

  • Weakness or loss of muscle strength

  • Loss of sight or double vision

  • Memory loss

  • Impaired mental ability

  • Lack of coordination

  • Muscle rigidity

  • Tremors and seizures

  • Back pain which radiates to the feet, toes, or other parts of the body

  • Muscle wasting and slurred speech

  • New language impairment (expression or comprehension)

The symptoms of a nervous system disorder may look like other medical conditions or problems. Always see your healthcare provider for a diagnosis.

Healthcare providers who treat nervous system disorders

Healthcare providers who treat nervous system disorders may have to spend a lot of time working with the patient before making a probable diagnosis of the specific condition. Many times, this involves performing numerous tests to eliminate other conditions, so that the probable diagnosis can be made.

Neurology. The branch of medicine that manages nervous system disorders is called neurology. The medical healthcare providers who treat nervous system disorders are called neurologists. Some neurologists treat acute strokes and cerebral aneurysms using endovascular techniques.

Neurological surgery. The branch of medicine that provides surgical intervention for nervous system disorders is called neurosurgery, or neurological surgery. Surgeons who operate as a treatment team for nervous system disorders are called neurological surgeons or neurosurgeons.

Neuroradiologists and interventional radiologists. Radiologists that specialize in the diagnosis of neurological conditions using imaging and in the treatment of certain neurologic conditions such as cerebral aneurysms, acute strokes, and vertebral fractures, as well as biopsies of certain tumors.

Rehabilitation for neurological disorders. The branch of medicine that provides rehabilitative care for patients with nervous system disorders is called physical medicine and rehabilitation. Healthcare providers who work with patients in the rehabilitation process are called physiatrists.

Neuromuscular Disorders

  • Genetics and Neuromuscular Diseases (Muscular Dystrophy Association) – PDF Also in Spanish
  • Genetics Home Reference: ataxia with vitamin E deficiency (National Library of Medicine)
  • Genetics Home Reference: Christianson syndrome (National Library of Medicine)
  • Genetics Home Reference: congenital myasthenic syndrome (National Library of Medicine)
  • Genetics Home Reference: distal hereditary motor neuropathy, type II (National Library of Medicine)
  • Genetics Home Reference: hereditary hyperekplexia (National Library of Medicine)
  • Genetics Home Reference: infantile-onset ascending hereditary spastic paralysis (National Library of Medicine)
  • Genetics Home Reference: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (National Library of Medicine)
  • Genetics Home Reference: multiple pterygium syndrome (National Library of Medicine)
  • Genetics Home Reference: Schwartz-Jampel syndrome (National Library of Medicine)
  • Genetics Home Reference: Silver syndrome (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 11 (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 15 (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 2 (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 31 (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 3A (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 4 (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 49 (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 5A (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 7 (National Library of Medicine)
  • Genetics Home Reference: spastic paraplegia type 8 (National Library of Medicine)
  • Genetics Home Reference: Troyer syndrome (National Library of Medicine)

Pain Is Not A Symptom Of Arthritis, Pain Causes Arthritis, Study Shows

In addition, researchers found that nerve pathways carrying pain signals transfer inflammation from arthritic joints to the spine and back again, causing disease at both ends.

Technically, pain is a patient’s conscious realization of discomfort. Before that can happen, however, information must be carried along nerve cell pathways from say an injured knee to the pain processing centers in dorsal horns of the spinal cord, a process called nociception. The current study provides strong evidence that two-way, nociceptive “crosstalk” may first enable joint arthritis to transmit inflammation into the spinal cord and brain, and then to spread through the central nervous system (CNS) from one joint to another.

Furthermore, if joint arthritis can cause neuro-inflammation, it could have a role in conditions like Alzheimer’s disease, dementia and multiple sclerosis. Armed with the results, researchers have identified likely drug targets that could interfere with key inflammatory receptors on sensory nerve cells as a new way to treat osteoarthritis (OA), which destroys joint cartilage in 21 million Americans. The most common form of arthritis, OA eventually brings deformity and severe pain as patients loose the protective cushion between bones in weight-bearing joints like knees and hips.

“Until relatively recently, osteoarthritis was believed to be due solely to wear and tear, and inevitable part of aging,” said Stephanos Kyrkanides, D.D.S., Ph.D., associate professor of Dentistry at the University of Rochester Medical Center. “Recent studies have revealed, however, that specific biochemical changes contribute to the disease, changes that might be reversed by precision-designed drugs. Our study provides the first solid proof that some of those changes are related to pain processing, and suggests the mechanisms behind the effect,” said Kyrkanides, whose work on genetics in dentistry led to broader applications. The common ground between arthritis and dentistry: the jaw joint is a common site of arthritic pain.

Study Details

Past studies have shown that specific nerve pathways along which pain signals travel repeatedly become more sensitive to pain signals with each use. This may be a part of ancient survival skill (if that hurt once, don’t do it again). Secondly, pain has long been associated with inflammation (swelling and fever).

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In fact, past research has shown that the same chemicals that cause inflammation also cause the sensation of pain and hyper-sensitivity to pain if injected. Kyrkanides’ work centers around one such pro-inflammatory, signaling chemical called Interleukin 1-beta (IL-1β), which helps to ramp up the bodies attack on an infection.

Specifically, Kyrkanides’ team genetically engineered a mouse where they could turn up on command the production of IL-1β in the jaw joint, a common site of arthritis. Experiments showed for the first time that turning up IL-1β in a peripheral joint caused higher levels of IL-1β to be produced in the dorsal horns of the spinal cord as well.

Using a second, even more elaborately engineered mouse model, the team also demonstrated for the first time that creating higher levels of IL-1β in cells called astrocytes in the spinal cord caused more osteoarthritic symptoms in joints. Past studies had shown astrocytes, non-nerve cells (glia) in the central nervous system that provide support for the spinal cord and brain, also serve as the immune cells of CNS organs. Among other things, they release cytokines like IL-1β to fight disease when triggered. The same cytokines released from CNS glia may also be released from neurons in joints, possibly explaining how crosstalk carries pain, inflammation and hyper-sensitivity back and forth.

In both mouse models, experimental techniques that shut down IL-1β signaling reversed the crosstalk effects. Specifically, researchers used a molecule, IL-1RA, known to inhibit the ability of IL-1β to link up with its receptors on nerve cells. Existing drugs (e.g. Kineret® (anakinra), made by Amgen and indicated for rheumatoid arthritis) act like IL-1RA to block the ability IL-1β to send a pain signal through its specific nerve cell receptor, and Kyrkanides’ group is exploring a new use for them as osteoarthritis treatment.

The implications of this process go further, however, because the cells surrounding sensory nerve cell pathways too can be affected by crosstalk. If 10 astrocytes secrete IL-1β in response to a pain impulse, Kyrkanides said, perhaps 1,000 adjacent cells will be affected, greatly expanding the field of inflammation. Spinal cord astrocytes are surrounded by sensory nerve cells that connect to other areas of the periphery, further expanding the effect. According to Kyrkanides’ model, increased inflammation by in the central nervous system can then send signals back down the nerve pathways to the joints, causing the release of inflammatory factors there.

Among the proposed, inflammatory factors is calcitonin gene related peptide (CGRP). The team observed higher levels calcitonin-gene related peptide (CGRP) production in primary sensory fibers in the same regions where IL-1β levels rose, and the release of IL-1β by sensory neurons may cause the release of CGRP in joints. Past studies in Kyrkanides reveal that CGRP can also cause cartilage-producing cells (chondrocytes) to mature too quickly and die, a hallmark of osteoarthritis.

Joining Kyrkanides in the publication from the University of Rochester School of Medicine and Dentistry were co-authors M. Kerry O’Banion, M.D., Ph.D., Ross Tallents, D.D.S., J. Edward Puzas, Ph.D. and Sabine M. Brouxhon, M.D. Paolo Fiorentino was a student contributor and Jennie Miller was involved as Kyrkanides’ technical associate. Maria Piancino, led a collaborative effort at the University of Torino, Italy. This work was supported in part by grants from the National Institutes of Health.

“Our study results confirm that joints can export inflammation in the form of higher IL-1β along sensory nerve pathways to the spinal cord, and that higher IL-1β inflammation in the spinal cord is sufficient in itself to create osteoarthritis in peripheral joints,” Kyrkanides said. “We believe this to be a vitally important process contributing to orthopaedic and neurological diseases in which inflammation is a factor.”

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