Holmes-Adie Syndrome

What is Holmes-Adie syndrome?
Holmes-Adie syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. HAS is thought to be the result of a viral or bacterial infection that causes inflammation and damage to neurons in the ciliary ganglion, an area of the brain that controls eye movements, and the spinal ganglion, an area of the brain involved in the response of the autonomic nervous system. HAS begins gradually in one eye, and often progresses to involve the other eye. At first, it may only cause the loss of deep tendon reflexes on one side of the body, but then progress to the other side. The eye and reflex symptoms may not appear at the same time. People with HAS may also sweat excessively, sometimes only on one side of the body. The combination of these 3 symptoms – abnormal pupil size, loss of deep tendon reflexes, and excessive sweating – is usually called Ross’s syndrome, although some doctors will still diagnosis the condition as a variant of HAS. Some individuals will also have cardiovascular abnormalities. The HAS symptoms can appear on their own, or in association with other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in young women. It is rarely an inherited condition.

Is there any treatment?
Doctors may prescribe reading glasses to compensate for impaired vision in the affected eye, and pilocarpine drops to be applied 3 times daily to constrict the dilated pupil. Thoracic sympathectomy, which severs the involved sympathetic nerve, is the definitive treatment for excessive sweating.

What is the prognosis?
Holmes-Adie syndrome is not life-threatening or disabling. The loss of deep tendon reflexes is permanent. Some symptoms of the disorder may progress. For most individuals, pilocarpine drops and glasses will improve vision.

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Attention Deficit-Hyperactivity Disorder (ADHD)

What is Attention Deficit-Hyperactivity Disorder?
Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years.

Is there any treatment?
The usual course of treatment may include medications such as methylphenidate (Ritalin) or dextroamphetamine (Dexedrine), which are stimulants that decrease impulsivity and hyperactivity and increase attention. Most experts agree that treatment for ADHD should address multiple aspects of the individual's functioning and should not be limited to the use of medications alone. Treatment should include structured classroom management, parent education (to address discipline and limit-setting), and tutoring and/or behavioral therapy for the child.

What is the prognosis?
There is no "cure" for ADHD. Children with the disorder seldom outgrow it; however, some may find adaptive ways to accommodate the ADHD as they mature.

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Acute Disseminated Encephalomyelitis

Synonym(s): Postinfectious Encephalomyelitis, Immune-Mediated Encephalomyelitis

What is Acute Disseminated Encephalomyelitis?
Acute disseminated encephalomyelitis (ADEM) is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages myelin – the protective covering of nerve fibers. It often follows viral infection, or less often, vaccination for measles, mumps, or rubella. The symptoms of ADEM come on quickly, beginning with encephalitis-like symptoms such as fever, fatigue, headache, nausea and vomiting, and in severe cases, seizures and coma. It may also damage white matter (brain tissue that takes its name from the white color of myelin), leading to neurological symptoms such as visual loss (due to inflammation of the optic nerve) in one or both eyes, weakness even to the point of paralysis, and difficulty coordinating voluntary muscle movements (such as those used in walking). ADEM is sometimes misdiagnosed as a severe first attack of multiple sclerosis (MS), since some of the symptoms of the two disorders, particularly those caused by white matter injury, may be similar. However, ADEM usually has symptoms of encephalitis (such as fever or coma), as well as symptoms of myelin damage (visual loss, paralysis), as opposed to MS, which doesn’t have encephalitis symptoms. In addition, ADEM usually consists of a single episode or attack, while MS features many attacks over the course of time. Doctors will often use imaging techniques, such as MRI (magnetic resonance imaging), to search for old and new lesions (areas of damage) on the brain. Old “inactive” brain lesions on MRI suggest that the condition may be MS rather than ADEM, since MS often causes brain lesions before symptoms become obvious. In rare situations, brain biopsy may show findings that allow differentiation between ADEM and severe, acute forms of MS. Children are more likely than adults to have ADEM.

Is there any treatment?
Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to intravenous corticosteroids such as methylprednisolone. When corticosteroids fail to work, plasmapheresis or intravenous immunoglobulin therapy has been shown to produce improvement. Additional treatment is symptomatic and supportive.

What is the prognosis?
Corticosteroid therapy can shorten the duration of neurological symptoms and halt further progression of the disease in the short term, but the long term prognosis for individuals with ADEM varies. For most, recovery begins within days, and half will recover completely. Others may have mild to moderate lifelong impairment. Severe cases of ADEM can be fatal. Some individuals who initially diagnosed as having ADEM will later be reclassified as MS, but there is currently no method to determine whom those individuals will be.

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Landau-Kleffner Syndrome

Synonym(s): Acquired Epileptiform Aphasia

What is Landau-Kleffner Syndrome?
Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). LKS affects the parts of the brain that control comprehension and speech. The disorder usually occurs in children between the ages of 5 and 7 years. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, mental retardation, childhood schizophrenia, or emotional/behavioral problems.

Is there any treatment?
Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started early. A controversial treatment option involves a surgical technique called multiple subpial transection in which the pathways of abnormal electrical brain activity are severed

What is the prognosis?
The prognosis for children with LKS varies. Some affected children may have a permanent severe language disorder, while others may regain much of their language abilities (although it may take months or years). In some cases, remission and relapse may occur. The prognosis is improved when the onset of the disorder is after age 6 and when speech therapy is started early. Seizures generally disappear by adulthood.

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Pompe Disease

Synonym(s): Neurological Manifestations of Pompe Disease, Acid Maltase Deficiency, Glycogen Storage Disease

What is Pompe Disease?

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.

Early onset (or infantile Pompe disease is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. More than half of all infants with Pompe disease also have enlarged tongues. Most babies with Pompe disease die from cardiac or respiratory complications before their first birthday.

Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. The heart may be involved but it will not be grossly enlarged. A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample — a test that has 100 percent accuracy. Once Pompe disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended. Carriers are most reliably identified via genetic mutation analysis.

Is there any treatment?

Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme©), has received FDA approval for the treatment of Pompe disease.

What is the prognosis?

Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge. These babies die before the age of one year from either cardiorespiratory failure or respiratory infection. For individuals with late onset Pompe disease, the prognosis is dependent upon the age of onset. In general, the later the age of onset, the slower the progression of the disease. Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement.

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Acid Lipase Disease/Wolman’s disease

Synonym(s): Cholesterol Ester Storage Disease, Wolman’s Disease

What is Acid Lipase Disease?
Acid lipase disease occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. These fatty substances, called lipids, include waxes, oils, and cholesterol. Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase:

Wolman’s disease is an autosomal recessive disorder marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, jaundice, anemia, vomiting, malnourishment, gastrointestinal problems, and calcium deposits in the adrenal glands, causing them to harden. Affected children also develop an enlarged liver and grossly enlarged spleen, and the abdomen is distended. Both male and female infants are affected by the disorder.

Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. CESD is a less severe variant of Wolman’s disease, with later onset. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Onset varies, and the disorder may not be diagnosed until adulthood.

Is there any treatment?
There is no specific treatment for Wolman’s disease or CESD. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.

What is the prognosis?
Infants with Wolman’s disease usually die by age 1 from malnutrition. The onset and course of CESD varies, and individuals may live into adulthood.

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Absence of the Septum Pellucidum

What is Absence of the Septum Pellucidum?
The septum pellucidum (SP) is a thin membrane located at the midline of the brain. Children who are born without this membraine and also have other abnormalities–pituitary deficiencies and abnormal development of the optic disk–have a disorder known as septo-optic dysplasia.

Is there any treatment?
Absence of the SP alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia.

What is the prognosis?
The prognosis for individuals with septo-optic dysplasia varies according to the presence and severity of symptoms.

What research is being done?
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent developmental brain disorders.

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What is Asperger Syndrome (AS)?

What is Asperger Syndrome?
Asperger syndrome (AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group of neurological conditions characterized by a greater or lesser degree of impairment in language and communication skills, as well as repetitive or restrictive patterns of thought and behavior. Other ASDs include: classic autism, Rett syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Unlike children with autism, children with AS retain their early language skills.

The most distinguishing symptom of AS is a child’s obsessive interest in a single object or topic to the exclusion of any other. Children with AS want to know everything about their topic of interest and their conversations with others will be about little else. Their expertise, high level of vocabulary, and formal speech patterns make them seem like little professors. Other characteristics of AS include repetitive routines or rituals; peculiarities in speech and language; socially and emotionally inappropriate behavior and the inability to interact successfully with peers; problems with non-verbal communication; and clumsy and uncoordinated motor movements.

Children with AS are isolated because of their poor social skills and narrow interests. They may approach other people, but make normal conversation impossible by inappropriate or eccentric behavior, or by wanting only to talk about their singular interest. Children with AS usually have a history of developmental delays in motor skills such as pedaling a bike, catching a ball, or climbing outdoor play equipment. They are often awkward and poorly coordinated with a walk that can appear either stilted or bouncy.

Is there any treatment?

The ideal treatment for AS coordinates therapies that address the three core symptoms of the disorder: poor communication skills, obsessive or repetitive routines, and physical clumsiness. There is no single best treatment package for all children with AS, but most professionals agree that the earlier the intervention, the better.

An effective treatment program builds on the child’s interests, offers a predictable schedule, teaches tasks as a series of simple steps, actively engages the child’s attention in highly structured activities, and provides regular reinforcement of behavior. It may include social skills training, cognitive behavioral therapy, medication for co-existing conditions, and other measures.

What is the prognosis?

With effective treatment, children with AS can learn to cope with their disabilities, but they may still find social situations and personal relationships challenging. Many adults with AS are able to work successfully in mainstream jobs, although they may continue to need encouragement and moral support to maintain an independent life.

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How to Get Help for Anxiety Disorders

If you think you have an anxiety disorder, the first person you should see is your family doctor. A physician can determine whether the sym

If you think you have an anxiety disorder, the first person you should see is your family doctor. A physician can determine whether the symptoms that alarm you are due to an anxiety disorder, another medical condition, or both.

If an anxiety disorder is diagnosed, the next step is usually seeing a mental health professional. The practitioners who are most helpful with anxiety disorders are those who have training in cognitive-behavioral therapy and/or behavioral therapy, and who are open to using medication if it is needed.
You should feel comfortable talking with the mental health professional you choose. If you do not, you should seek help elsewhere. Once you find a mental health professional with whom you are comfortable, the two of you should work as a team and make a plan to treat your anxiety disorder together.

Remember that once you start on medication, it is important not to stop taking it abruptly. Certain drugs must be tapered off under the supervision of a doctor or bad reactions can occur. Make sure you talk to the doctor who prescribed your medication before you stop taking it. If you are having trouble with side effects, it’s possible that they can be eliminated by adjusting how much medication you take and when you take it.

Most insurance plans, including health maintenance organizations (HMOs), will cover treatment for anxiety disorders. Check with your insurance company and find out. If you don’t have insurance, the Health and Human Services division of your county government may offer mental health care at a public mental health center that charges people according to how much they are able to pay. If you are on public assistance, you may be able to get care through your state Medicaid plan.

Ways to Make Treatment More Effective
Many people with anxiety disorders benefit from joining a self-help or support group and sharing their problems and achievements with others. Internet chat rooms can also be useful in this regard, but any advice received over the Internet should be used with caution, as Internet acquaintances have usually never seen each other and false identities are common. Talking with a trusted friend or member of the clergy can also provide support, but it is not a substitute for care from a mental health professional.

Stress management techniques and meditation can help people with anxiety disorders calm themselves and may enhance the effects of therapy. There is preliminary evidence that aerobic exercise may have a calming effect. Since caffeine, certain illicit drugs, and even some over-the-counter cold medications can aggravate the symptoms of anxiety disorders, they should be avoided. Check with your physician or pharmacist before taking any additional medications.

The family is very important in the recovery of a person with an anxiety disorder. Ideally, the family should be supportive but not help perpetuate their loved one’s symptoms. Family members should not trivialize the disorder or demand improvement without treatment. If your family is doing either of these things, you may want to show them this website so they can become educated allies and help you succeed in therapy.

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ptoms that alarm you are due to an anxiety disorder, another medical condition, or both.

If an anxiety disorder is diagnosed, the next step is usually seeing a mental health professional. The practitioners who are most helpful with anxiety disorders are those who have training in cognitive-behavioral therapy and/or behavioral therapy, and who are open to using medication if it is needed.

You should feel comfortable talking with the mental health professional you choose. If you do not, you should seek help elsewhere. Once you find a mental health professional with whom you are comfortable, the two of you should work as a team and make a plan to treat your anxiety disorder together.

Remember that once you start on medication, it is important not to stop taking it abruptly. Certain drugs must be tapered off under the supervision of a doctor or bad reactions can occur. Make sure you talk to the doctor who prescribed your medication before you stop taking it. If you are having trouble with side effects, it’s possible that they can be eliminated by adjusting how much medication you take and when you take it.

Most insurance plans, including health maintenance organizations (HMOs), will cover treatment for anxiety disorders. Check with your insurance company and find out. If you don’t have insurance, the Health and Human Services division of your county government may offer mental health care at a public mental health center that charges people according to how much they are able to pay. If you are on public assistance, you may be able to get care through your state Medicaid plan.

Ways to Make Treatment More Effective

Many people with anxiety disorders benefit from joining a self-help or support group and sharing their problems and achievements with others. Internet chat rooms can also be useful in this regard, but any advice received over the Internet should be used with caution, as Internet acquaintances have usually never seen each other and false identities are common. Talking with a trusted friend or member of the clergy can also provide support, but it is not a substitute for care from a mental health professional.

Stress management techniques and meditation can help people with anxiety disorders calm themselves and may enhance the effects of therapy. There is preliminary evidence that aerobic exercise may have a calming effect. Since caffeine, certain illicit drugs, and even some over-the-counter cold medications can aggravate the symptoms of anxiety disorders, they should be avoided. Check with your physician or pharmacist before taking any additional medications.

The family is very important in the recovery of a person with an anxiety disorder. Ideally, the family should be supportive but not help perpetuate their loved one’s symptoms. Family members should not trivialize the disorder or demand improvement without treatment. If your family is doing either of these things, you may want to show them this website so they can become educated allies and help you succeed in therapy.

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What is Obsessive-Compulsive Disorder (OCD)?

What is Obsessive-Compulsive Disorder?
Obsessive-Compulsive Disorder, OCD, is an anxiety disorder and is characterized by recurrent, unwanted thoughts (obsessions) and/or repetitive behaviors (compulsions). Repetitive behaviors such as handwashing, counting, checking, or cleaning are often performed with the hope of preventing obsessive thoughts or making them go away. Performing these so-called "rituals," however, provides only temporary relief, and not performing them markedly increases anxiety.

People with obsessive-compulsive disorder (OCD) have persistent, upsetting thoughts (obsessions) and use rituals (compulsions) to control the anxiety these thoughts produce. Most of the time, the rituals end up controlling them.

For example, if people are obsessed with germs or dirt, they may develop a compulsion to wash their hands over and over again. If they develop an obsession with intruders, they may lock and relock their doors many times before going to bed. Being afraid of social embarrassment may prompt people with OCD to comb their hair compulsively in front of a mirror-sometimes they get “caught” in the mirror and can’t move away from it. Performing such rituals is not pleasurable. At best, it produces temporary relief from the anxiety created by obsessive thoughts.

Other common rituals are a need to repeatedly check things, touch things (especially in a particular sequence), or count things. Some common obsessions include having frequent thoughts of violence and harming loved ones, persistently thinking about performing sexual acts the person dislikes, or having thoughts that are prohibited by religious beliefs. People with OCD may also be preoccupied with order and symmetry, have difficulty throwing things out (so they accumulate), or hoard unneeded items.

Healthy people also have rituals, such as checking to see if the stove is off several times before leaving the house. The difference is that people with OCD perform their rituals even though doing so interferes with daily life and they find the repetition distressing. Although most adults with OCD recognize that what they are doing is senseless, some adults and most children may not realize that their behavior is out of the ordinary.

OCD affects about 2.2 million American adults, and the problem can be accompanied by eating disorders, other anxiety disorders, or depression. It strikes men and women in roughly equal numbers and usually appears in childhood, adolescence, or early adulthood. One-third of adults with OCD develop symptoms as children, and research indicates that OCD might run in families.

The course of the disease is quite varied. Symptoms may come and go, ease over time, or get worse. If OCD becomes severe, it can keep a person from working or carrying out normal responsibilities at home. People with OCD may try to help themselves by avoiding situations that trigger their obsessions, or they may use alcohol or drugs to calm themselves.

OCD usually responds well to treatment with certain medications and/or exposure-based psychotherapy, in which people face situations that cause fear or anxiety and become less sensitive (desensitized) to them. NIMH is supporting research into new treatment approaches for people whose OCD does not respond well to the usual therapies. These approaches include combination and augmentation (add-on) treatments, as well as modern techniques such as deep brain stimulation.

Signs & Symptoms

People with OCD may be plagued by persistent, unwelcome thoughts or images, or by the urgent need to engage in certain rituals. They may be obsessed with germs or dirt, and wash their hands over and over. They may be filled with doubt and feel the need to check things repeatedly.

Treatment

Effective treatments for obsessive-compulsive disorder are available, and research is yielding new, improved therapies that can help most people with OCD and other anxiety disorders lead productive, fulfilling lives.

Getting Help: Locate Services

Locate mental health services in your area, affordable healthcare, NIMH clinical trials, and listings of professionals and organizations.

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