Achalasia Overview

What is achalasia?

The esophagus is the muscular tube that extends from the neck to the abdomen and connects the throat to the stomach. Achalasia is a condition where the esophagus is unable to move food into the stomach. The lower esophageal sphincter (LES), a valve located at the end of the esophagus, stays closed during swallowing, resulting in the back up of food. Other symptoms include vomiting undigested food, chest pain, heartburn and weight loss..

Who is affected by achalasia?

Achalasia develops in about 3,000 people in the United States each year. It is typically diagnosed in adults, but can occur in children as well. There is no particular race or ethnic group that is affected, and the condition does not run in families.

Is achalasia serious?

Slowly, over a number of years, people with achalasia experience an increasing difficulty in eating solid food and in drinking liquids. As their

Agenesis of the Corpus Callosum

Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two hemispheres of the brain (the corpus callosum) is partially or completely absent. ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, Andermann syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.) Girls may have a gender-specific condition called Aicardi's syndrome, which causes severe mental retardation, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye. ACC can also be associated with malformations in other parts of the body, such as midline facial defects. The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Intelligence may be normal with mild compromise of skills requiring matching of visual patterns. But children with the most severe brain malformations may have intellectual retardation, seizures, hydrocephalus, and spasticity.

Is there any treatment?

There is no standard course of treatment for ACC. Treatment usually involves management of symptoms and seizures if they occur.

What is the prognosis?

Prognosis depends on the extent and severity of malformations. ACC does not cause death in the majority of children. Mental retardation does not worsen. Although many children with the disorder have average intelligence and lead normal lives, neuropsychological testing reveals subtle differences in higher cortical function compared to individuals of the same age and education without ACC.

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 helps researchers understand how the process can go awry and provides opportunities for more effectively treating, and perhaps even preventing, developmental brain disorders such as ACC.

Acanthosis Nigricans

Acanthosis nigricans is a skin disorder that results in velvety, light-brown-to-black markings that can occur in any location but mainly are found in the skin folds of the neck, armpits, groin, and under the breasts.

What causes acanthosis nigricans?

Acanthosis nigricans can affect otherwise healthy people, or it can be associated with certain medical conditions. Sometimes acanthosis nigricans is congenital (something a person is born with). It is more likely to be seen in people with darker skin. The most common type is found in conditions that are associated with an elevated insulin blood level, such as in diabetes and obesity. There are many other possible causes of acanthosis nigricans, including:

Prostate Cancer Basics

The prostate is a muscular, walnut-sized gland that surrounds part of the urethra, the tube that transports urine and sperm out of the body. (A gland is a group of cells that secretes chemicals that act on or control the activity of other cells or organs.)

The main function of the prostate is to produce semen, the milky fluid that transports sperm. Sperm is produced in the testicles, which also produce the main male hormone testosterone. Testosterone stimulates the growth and function of the prostate during puberty, as well as the production of prostatic fluid for semen.

During sexual climax (orgasm), the muscles of the prostate contract to push the semen through the urethra and out through the penis. The urethra also carries urine, a waste product made by the kidneys and stored in the bladder. When the penis is erect during sexual intercourse, the flow of urine is blocked from the urethra, allowing only semen to be ejaculated at orgasm.

Where is the prostate located?

The prostate is located directly beneath the bladder and in front of the rectum. Because the upper portion of the urethra passes through the prostate, if the gland becomes enlarged it can obstruct the passage of urine or semen through the urethra.

Abnormal Kidney Function

According to the National Kidney Foundation, 26 million Americans have kidney disease and millions more are at an increased risk. If kidney disease worsens, wastes build to high levels in the blood; complications such as high blood pressure, anemia (low blood count), weak bones, and nerve damage can occur and increase the risk of heart and blood vessel disease. Chronic kidney disease (CKD) may be caused by diabetes, high blood pressure and other disorders. When kidney disease progresses, it may eventually lead to kidney failure, requiring dialysis or kidney transplant. Early detection and treatment can often help keep CKD from getting worse.

Abnormal Heart Rhythms

What is an arrhythmia?

An arrhythmia (also called dysrhythmia) is an irregular or abnormal heartbeat.

What are the types of arrhythmias?

• Tachycardia: A fast heart rhythm with a rate of more than 100 beats per minute.
• Bradycardia: A slow heart rhythm with a rate below 60 beats per minute.
• Supraventricular arrhythmias: Arrhythmias that begin in the atria (the heart’s upper chambers). “Supra” means above; “ventricular” refers to the lower chambers of the heart, or ventricles.
• Ventricular arrhythmias: Arrhythmias that begin in the ventricles (the heart’s lower chambers.
• Bradyarrhythmias: Slow heart rhythms that may be caused by disease in the heart’s conduction system, such as the sinoatrial (SA) node, atrioventricular (AV) node or HIS-Purkinje network (see “The Heart’s Electrical System” section on the next page).

What causes arrhythmias?

Arrhythmias can be caused by:

• Coronary artery disease
• High blood pressure
• Changes in the heart muscle (cardiomyopathy)
• Valve disorders
• Electrolyte imbalances in the blood, such as sodium or potassium
• Injury from a heart attack
• The healing process after heart surgery
• Other medical conditions

Heart Rhythms on ECG

The heart’s electrical system triggers the heartbeat. Each beat of the heart is represented on the electrocardiogram (EKG or ECG) by a wave arm.

Normal Heart Rhythm 
The normal heart rhythm (normal sinus rhythm) shows the electrical activity in the heart is following the normal pathway. The rhythm is regular and the node is normal (about 50 to 100 beats per minute).

Tachycardia: fast heart rhythm (greater than 100 beats per minute)

Bradycardia: slow heart rhythm (less than 60 beats per minute)

Ablation for Cardiac Arrhythmias

What is a cardiac arrhythmia?

A cardiac arrhythmia, also called dysrhythmia, is an irregular or abnormal heart rhythm.

What is catheter ablation?

Catheter ablation is a type of treatment for cardiac arrhythmias. During ablation, a doctor inserts a catheter (thin, flexible tube) into the heart. A special machine delivers energy through the catheter to tiny areas of the heart muscle that cause the abnormal heart rhythm. This energy “disconnects” the pathway of the abnormal rhythm.

The ablation procedure also can be used to disconnect the electrical pathway between the upper chambers (atria) and lower chambers (ventricles) of the heart. The type of ablation performed depends upon the type of arrhythmia.

Spasmodic Dysphonia

Spasmodic dysphonia (or laryngeal dystonia) is a voice disorder caused by involuntary movements of one or more muscles of the larynx or voice box. Individuals who have spasmodic dysphonia may have occasional difficulty saying a word or two or they may experience sufficient difficulty to interfere with communication. Spasmodic dysphonia causes the voice to break or to have a tight, strained or strangled quality. There are three different types of spasmodic dysphonia.

What are the types of spasmodic dysphonia?

The three types of spasmodic dysphonia are adductor spasmodic dysphonia, abductor spasmodic dysphonia and mixed spasmodic dysphonia.

What are the features of spasmodic dysphonia?

In adductor spasmodic dysphonia, sudden involuntary muscle movements or spasms cause the vocal folds (or vocal cords) to slam together and stiffen. These spasms make it difficult for the vocal folds to vibrate and produce voice. Words are often cut off or difficult to start because of the muscle spasms. Therefore, speech may be choppy and sound similar to stuttering. The voice of an individual with adductor spasmodic dysphonia is commonly described as strained or strangled and full of effort. Surprisingly, the spasms are usually absent while whispering, laughing, singing, speaking at a high pitch or speaking while breathing in. Stress, however, often makes the muscle spasms more severe.

In abductor spasmodic dysphonia, sudden involuntary muscle movements or spasms cause the vocal folds to open. The vocal folds can not vibrate when they are open. The open position of the vocal folds also allows air to escape from the lungs during speech. As a result, the voices of these individuals often sound weak, quiet and breathy or whispery. As with adductor spasmodic dysphonia, the spasms are often absent during activities such as laughing or singing.

Mixed spasmodic dysphonia involves muscles that open the vocal folds as well as muscles that close the vocal folds and therefore has features of both adductor and abductor spasmodic dysphonia.

Who is affected by spasmodic dysphonia?

Spasmodic dysphonia can affect anyone. The first signs of this disorder are found most often in individuals between 30 and 50 years of age. More women appear to be affected by spasmodic dysphonia than are men.

What causes spasmodic dysphonia?

The cause of spasmodic dysphonia is unknown. Because the voice can sound normal or near normal at times, spasmodic dysphonia was once thought to be psychogenic, that is, originating in the affected person¹s mind rather than from a physical cause. While psychogenic forms of spasmodic dysphonia exist, research has revealed increasing evidence that most cases of spasmodic dysphonia are in fact neurogenic or having to do with the nervous system (brain and nerves). Spasmodic dysphonia may co-occur with other movement disorders such as blepharospasm (excessive eye blinking and involuntary forced eye closure), tardive dyskinesia (involuntary and repetitious movement of muscles of the face, body, arms and legs), oromandibular dystonia (involuntary movements of the jaw muscles, lips and tongue), torticollis (involuntary movements of the neck muscles), or tremor (rhythmic, quivering muscle movements).

In some cases, spasmodic dysphonia may run in families and is thought to be inherited. Research has identified a possible gene on chromosome 9 that may contribute to the spasmodic dysphonia that is common to certain families. In some individuals the voice symptoms begin following an upper respiratory infection, injury to the larynx, a long period of voice use, or stress.

How is spasmodic dysphonia diagnosed?

The diagnosis of spasmodic dysphonia is usually made based on identifying the way the symptoms developed as well as by careful examination of the individual. Most people are evaluated by a team that usually includes an otolaryngologist (a physician who specializes in ear, nose and throat disorders), a speech-language pathologist (a professional trained to diagnose and treat speech, language and voice disorders) and a neurologist (a physician who specializes in nervous system disorders). The otolaryngologist examines the vocal folds to look for other possible causes for the voice disorder. Fiberoptic nasolaryngoscopy, a method whereby a small lighted tube is passed through the nose and into the throat, is a helpful tool that allows the otolaryngologist to evaluate vocal cord movement during speech. The speech-language pathologist evaluates the patient's voice and voice quality. The neurologist evaluates the patient for signs of other muscle movement disorders.

What treatment is available for spasmodic dysphonia?

There is presently no cure for spasmodic dysphonia. Current treatments only help reduce the symptoms of this voice disorder. Voice therapy may reduce some symptoms, especially in mild cases. An operation that cuts one of the nerves of the vocal folds (the recurrent laryngeal nerve) has improved the voice of many for several months to several years but the improvement is often temporary. Others may benefit from psychological counseling to help them to accept and live with their voice problem. Still others may benefit from job counseling that will help them select a line of work more compatible with their speaking limitations.

Currently the most promising treatment for reducing the symptoms of spasmodic dysphonia is injections of very small amounts of botulinum toxin (botox) directly into the affected muscles of the larynx. Botulinum toxin is produced by the Clostridium botulinum bacteria. This is the bacterium that occurs in improperly canned foods and honey. The toxin weakens muscles by blocking the nerve impulse to the muscle. The botox injections generally improve the voice for a period of three to four months after which the voice symptoms gradually return. Reinjections are necessary to maintain a good speaking voice. Initial side effects that usually subside after a few days to a few weeks may include a temporary weak, breathy voice or occasional swallowing difficulties. Botox may relieve the symptoms of both adductor and abductor spasmodic dysphonia.

Where can I get more information?

NIDCD maintains a directory of organizations that can answer questions and provide printed or electronic information on spasmodic dysphonia. Please see the list of organizations at www.nidcd.nih.gov/.

Abdominoplasty

Are sit-ups just not giving you the taut tummy you desire? If you’ve got a little too much flab or excess skin in your abdomen that won’t diminish with diet or exercise, you may want to consider an abdominoplasty, popularly referred to as a tummy tuck. This procedure flattens your abdomen by removing extra fat and skin, and tightening muscles in your abdominal wall.

However, this is a major surgery, so if you’re considering it, please take the time to educate yourself, thoroughly analyze your own situation, and do not rush to make the final decision. A tummy tuck should be the last resort for people who have exhausted all other measures, and the procedure should not be used as an alternative to weight loss.

Abdominal Strain

Lower abdominal strains usually have a gradual onset and are often found in sports that require a lot of twisting and turning, such as football or tennis. It is not usually a debilitating injury, but if the strain continually worsens it can become debilitating. It is an overuse injury and since then abdominal muscles are constantly used, rest is often necessary.

Symptoms

• Pain felt during activities such as sprinting (not light running), striking a ball, and sometimes while laughing, coughing, or sneezing.
• After prolonged sitting there is often stiffness.

Treatment

• Compress area to minimize movement and any swelling.
• Adductor (groin) stretches and abdominal strengthening exercises are recommended.
• Rest with periods of light and gentle stretching.
• See your physician if pain does not subside with a few weeks.

Prevention

• Light stretching of the groin and abdominal muscles daily.
• Strengthening exercises for the abdominal and back.
• Rest if feeling discomfort.

Treatment of Abdominal Pain

Just about everybody at one point or another will experience abdominal pain. Most causes of abdominal pain are not serious and can be readily diagnosed and treated. However, abdominal pain can also be the sign of a serious illness, and it is important that you learn to recognize which symptoms are severe and when to call a doctor.

Abdominal Aortic Aneurysm

What is an abdominal aortic aneurysm?

An abdominal aortic aneurysm is an enlargement of the lower part of the aorta that extends through the abdominal area (at times, the upper portion of the aorta in the chest can be enlarged). The aorta is the main blood vessel that carries blood from the heart to the rest of the body. Like most arteries, the aorta is elastic, which allows it to be filled with blood under high pressure. An aneurysm develops when the wall of the artery becomes weakened and distended like a balloon. The analogy of a bubble in a garden hose would be appropriate in describing an aneurysm. Aneurysms usually are discovered before they produce symptoms, such as back pain, but like the weakened hose, they may rupture if they become too large. Since a ruptured aneurysm is extremely dangerous and can cause life-threatening bleeding, aneurysms are best corrected by an operation before this happens.