Achalasia is a rare disease of the muscle of the esophagus (swallowing tube). The term achalasia means "failure to relax" and refers to the inability of the lower esophageal sphincter (a ring of muscle situated between the lower esophagus and the ...

Amyotrophic lateral sclerosis facts Amyotrophic lateral sclerosis is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles. Amyotrophic late...

The botulism neurotoxin is one of the most potent, lethal substances known. Botulism is a disease caused by this neurotoxin (specifically A, B, E, or F type neurotoxin). The neurotoxin is produced by bacteria called Clostr...

Fukuyama type congenital muscular dystrophy (FCMD) is one of several forms of a rare type of muscular dystrophy known as congenital muscular dystrophy. It is inherited as an autosomal recessive trait. Symptoms of this disorder are apparent at birt...

Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, invariably fatal brain disorder. It affects about one person in every one million people per year worldwide; in the United States there are about 200 cases per year. CJD usually appears in l...

Locked-in syndrome is a rare neurological disorder in which there is complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. Individuals with locked-in syndrome are conscious and awake, but have no a...

Encephaloceles are rare birth defects associated with skull defects characterized by partial lacking of bone fusion leaving a gap through which a portion of the brain sticks out (protrudes). In some cases, cerebrospinal fluid or the membranes that...

What is the esophagus? The esophagus is a muscular tube in the chest. It's about 10 inches (25 centimeters) long. This organ is part of the digestive tract. Food moves from the mouth through the esophagus to the stomach. Th...

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and har...

Guillain-Barre (gee-YAH-buh-RAY) syndrome is a rare disorder in which your body's immune system attacks your nerves. Weakness and tingling in your extremities are usually the first symptoms. These sensations can quickly spread, eventually ...

Chromosome 10, monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable, depending upon t...

What is cancer? Cancer is a group of many related diseases that begin in cells, the body's basic unit of life. All of the bodies tissues and organs are composed of cells of various types. Normally, cells grow and divide to form new cells i...

A hematoma is a collection of blood outside of a blood vessel. Symptoms of hematomas depend upon their location and whether adjacent structures are affected by the inflammation and swelling associated with the bleeding. Tr...

IBS triggers and prevention facts Foods and drinks that dehydrate the body can trigger constipation in IBS patients. Fatty foods can trigger diarrhea in people with IBS; others may also do so but specific food triggers of di...

Familial idiopathic basal ganglia calcification (FIBGC) is a rare neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) of unknown cause. Associated symptoms include progressive deterioration of cognitiv...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

Kennedy disease is a rare, X-linked slowly progressive neuro-muscular disorder. Kennedy disease is typically an adult-onset disease, where symptoms occur mainly between the ages of 20 and 50. The disease is characterized by symptoms such as muscle...

Laryngeal Papilloma is a rare medical condition in which non-cancerous tumors form along the aerodigestive tract. Laryngeal Papilloma grows inside the voice box, vocal cords, or the air passage from the nose to the lungs. The symptoms include brea...

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat ...

Motor neuron disease comprises a group of severe disorders of the nervous system characterized by progressive degeneration of motor neurons (neurons are the basic nerve cells that combine to form nerves). Motor neurons control the behavior of musc...

Recurrent Respiratory Papillomatosis (RRP) is the respiratory condition characterised by the presence of recurrent wart-like growths called papillomas around the vocal cords in the respiratory tract. It is caused by the Human Papill...

Sydenham chorea is a rare neurological disorder characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands. Additional symptoms may include muscle weakness and emotional or behavioral problems. Sydenham chor...

Familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, ...

Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier's disease, affects the ligaments around the spine. Sections of the ligaments turn into bone in this disorder, which is considered to be a form of degenerative arthritis. ...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

Stomach cancer is an abnormal growth of cells that begins in the stomach. The st...

Subacute cerebellar degeneration (SCD) is characterized by the deterioration of the area of the brain concerned with muscle coordination and balance (the cerebellum). Less frequently, the area involved may include the area connecting the spinal co...

Creutzfeldt-Jakob disease (CJD) is an extremely rare degenerative brain disorder (i.e., spongiform encephalopathy) characterized by sudden development of rapidly progressive neurological and neuromuscular symptoms. With symptom onset, affected ind...

Tetanus, also known as lockjaw, is a serious bacterial infection caused by the bacterium Clostridium tetani. The bacteria usually enter the body through a wound or cut, where they produce a toxin that affects the nervous system, leading to muscle ...

Central pain syndrome is a neurological disorder caused by damage to the central nervous system (CNS). Common symptoms include pain and loss of sensation, usually in the face, arms and/or legs. Pain is often constant and can be mild, moderate, or ...

Cervical dystonia, also known as spasmodic torticollis, is a rare neurological disorder characterized by involuntary muscle contractions in the neck that cause abnormal movements and postures of the neck and head. In some cases, these abnormal con...

Esophageal atresia (EA) is a rare birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally. In infants with EA, the esophagus is usually separated into two parts, an upper and lower segment...

General DiscussionVACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more co...

General DiscussionVACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more co...

Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier's disease, affects the ligaments around the spine. Sections of the ligaments turn into bone in this disorder, which is considered to be a form of degenerative arthritis. ...

Some people with Wallenberg's syndrome have difficulty balancing while walking because they feel like the world is tilting. Wallenberg's syndrome, also called lateral medullary syndrome or Wallenberg syndrome, is a neurological condition...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder that is characterized by muscle weakness that can range from mild to profound. Symptoms are often present at birth, but may first develop during infancy or early childho...