Dysautonomia (autonomic dysfunction) is a broad term that describes any disease or malfunction of the
autonomic nervous systemThe autonomic nervous system is the part of the peripheral nervous system that acts as a control system functioning largely below the level of consciousness, and controls visceral functions. The ANS affects heart rate, digestion, respiration rate, salivation, perspiration, diameter of the pupils,...
. This includes
postural orthostatic tachycardia syndromePostural orthostatic tachycardia syndrome is a condition of dysautonomia, and more specifically, orthostatic intolerance, in which a change from the supine position to an upright position causes an abnormally large increase in heart rate, called tachycardia...
(POTS),
vasovagal syncopeA vasovagal episode or vasovagal response or vasovagal attack is a malaise mediated by the vagus nerve. When it leads to fainting, it is called a vasovagal syncope, which is the most common type of fainting.There are a number of different syncope syndromes which all fall under the umbrella of...
, mitral valve prolapse dysautonomia,
pure autonomic failurePure autonomic failure, also known as Bradbury-Eggleston syndrome or idiopathic orthostatic hypotension, is a form of dysautonomia that first occurs in middle age or later in life; men are affected more often than women...
, Neurocardiogenic syncope (NCS), Neurally Mediated Hypotension (NMH) autonomic instability and a number of lesser-known disorders such as
cerebral salt-wasting syndromeCerebral salt-wasting syndrome is a rare endocrine condition featuring hyponatremia and dehydration in response to trauma/injury or the presence of tumors in or surrounding the brain...
. Dysautonomia is associated with
multiple system atrophyMultiple system atrophy is a degenerative neurological disorder. MSA is associated with the degeneration of nerve cells in specific areas of the brain. This cell degeneration causes problems with movement, balance and autonomic functions of the body such as bladder control. The cause of MSA is...
(Shy-Drager syndrome),
Ehlers-Danlos syndromeEhlers-Danlos Syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
, and
Marfan syndromeMarfan syndrome is a genetic disorder of the connective tissue.It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected...
for reasons that are not fully understood.
Symptoms of dysautonomia are numerous and vary widely from person to person.
Dysautonomia (autonomic dysfunction) is a broad term that describes any disease or malfunction of the
autonomic nervous systemThe autonomic nervous system is the part of the peripheral nervous system that acts as a control system functioning largely below the level of consciousness, and controls visceral functions. The ANS affects heart rate, digestion, respiration rate, salivation, perspiration, diameter of the pupils,...
. This includes
postural orthostatic tachycardia syndromePostural orthostatic tachycardia syndrome is a condition of dysautonomia, and more specifically, orthostatic intolerance, in which a change from the supine position to an upright position causes an abnormally large increase in heart rate, called tachycardia...
(POTS),
vasovagal syncopeA vasovagal episode or vasovagal response or vasovagal attack is a malaise mediated by the vagus nerve. When it leads to fainting, it is called a vasovagal syncope, which is the most common type of fainting.There are a number of different syncope syndromes which all fall under the umbrella of...
, mitral valve prolapse dysautonomia,
pure autonomic failurePure autonomic failure, also known as Bradbury-Eggleston syndrome or idiopathic orthostatic hypotension, is a form of dysautonomia that first occurs in middle age or later in life; men are affected more often than women...
, Neurocardiogenic syncope (NCS), Neurally Mediated Hypotension (NMH) autonomic instability and a number of lesser-known disorders such as
cerebral salt-wasting syndromeCerebral salt-wasting syndrome is a rare endocrine condition featuring hyponatremia and dehydration in response to trauma/injury or the presence of tumors in or surrounding the brain...
. Dysautonomia is associated with
multiple system atrophyMultiple system atrophy is a degenerative neurological disorder. MSA is associated with the degeneration of nerve cells in specific areas of the brain. This cell degeneration causes problems with movement, balance and autonomic functions of the body such as bladder control. The cause of MSA is...
(Shy-Drager syndrome),
Ehlers-Danlos syndromeEhlers-Danlos Syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
, and
Marfan syndromeMarfan syndrome is a genetic disorder of the connective tissue.It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected...
for reasons that are not fully understood.
Presentation
Symptoms of dysautonomia are numerous and vary widely from person to person. Since dysautonomia is a full-body condition, a large number of symptoms may be present that can greatly alter a person's quality of life. Each patient with dysautonomia is different—some are affected only mildly while others are left completely bedridden and disabled.
The primary symptoms that present in patients with dysautonomia are:
- Excessive fatigue
- Excessive thirst (polydipsia
Polydipsia is a medical symptom in which the patient displays excessive thirst. The word derives from the Greek πολυδιψία, which is derived from πολύς + δίψα...
)
- Lightheadedness, dizziness or vertigo
Vertigo is a specific type of dizziness, a major symptom of a balance disorder. It is the sensation of spinning or swaying while the body is actually stationary with respect to the surroundings.The effects of vertigo may be slight...
- Feelings of anxiety or panic (not mentally induced)
- Rapid heart rate
Tachycardia comes from the Greek words tachys and kardia . Tachycardia typically refers to a heart rate that exceeds the normal range for a resting heartrate...
or slow heart rateBradycardia , as applied to adult medicine, is defined as a resting heart rate of under 60 beats per minute, though it is seldom symptomatic until the rate drops below 50 beat/min....
- Orthostatic hypotension
Orthostatic hypotension is a form of hypotension in which a person's blood pressure suddenly falls when the person stands up...
, sometimes resulting in SyncopeIn phonology, syncope is the loss of one or more sounds from the interior of a word; especially, the loss of an unstressed vowel.-Syncope as a historical sound change:...
- Joint pain
Other symptoms frequently associated with dysautonomia include: headaches,
pallorPallor is a reduced amount of oxyhemoglobin in skin or mucous membrane, a pale color which can be caused by illness, emotional shock or stress, avoiding excessive exposure to sunlight, anemia or genetics. It is more evident on the face and palms...
,
malaiseMalaise is a feeling of general discomfort or uneasiness, an "out of sorts" feeling, often the first indication of an infection or other disease...
, facial flushing,
constipationConstipation, costiveness, or irregularity is a condition of the digestive system in which a person experiences hard feces that are difficult to expel. This usually happens because the colon absorbs too much water from the food...
,
diarrheaIn medicine, diarrhea , also spelled diarrhoea , is the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide...
,
nauseaNausea is the sensation of unease and discomfort in the stomach with an urge to vomit.-Causes:...
, acid reflux, visual disturbances,
orthostatic hypotensionOrthostatic hypotension is a form of hypotension in which a person's blood pressure suddenly falls when the person stands up...
, numbness, nerve pain, trouble breathing, chest pains, in some cases loss of consciousness and seizures. A full list of symptoms may be found
here.
Causes
Causes of dysautonomias are not fully understood, but they are thought to include:
- Viral illness
- Brain injury
An acquired brain injury is damage to the brain acquired after birth. It usually affects cognitive, physical, emotional, social or independent functioning and can result from traumatic brain injury and nontraumatic brain injury...
- Gene
A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cells and pass genetic traits to offspring...
tic factors
- Bad body posture (causes compression of important arteries and/or nerves)
- Exposure to chemicals
- Pregnancy
Pregnancy is the carrying of one or more offspring, known as a fetus or embryo, inside the uterus of a female. In a pregnancy, there can be multiple gestations, as in the case of twins or triplets. Human pregnancy is the most studied of all mammalian pregnancies. Obstetrics is the surgical field...
- Hereditary connective tissue
Connective tissue is a form of fibrous tissue.. It is one of the four types of tissue in traditional classifications ....
diseases, especially Ehlers-Danlos SyndromeEhlers-Danlos Syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
- Autoimmune disorders, especially diabetes
- Physical trauma
Physical trauma refers to a physical injury, generally of a considerably severe degree. A trauma patient is someone who has suffered serious and life-threatening physical injury with the potential for secondary complications such as shock, respiratory failure and death.-Common causes:Comprehensive...
or injury which damages the autonomic nervous systemThe autonomic nervous system is the part of the peripheral nervous system that acts as a control system functioning largely below the level of consciousness, and controls visceral functions. The ANS affects heart rate, digestion, respiration rate, salivation, perspiration, diameter of the pupils,...
, as with Cerebral salt-wasting syndromeCerebral salt-wasting syndrome is a rare endocrine condition featuring hyponatremia and dehydration in response to trauma/injury or the presence of tumors in or surrounding the brain...
.
Management
There is no cure or treatment for dysautonomia. Medications are used to stabilize the condition on a long-term basis. Benzodiazepines can be used for some of the physical problems such as
anxietyAnxiety is a psychological and physiological state characterized by cognitive, somatic, emotional, and behavioral components. These components combine to create an unpleasant feeling that is typically associated with uneasiness, fear, or worry....
. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic intolerance include elevation of the head of the bed, frequent small meals, a high-salt diet, fluid intake, and compression stockings. Drugs such as
fludrocortisoneFludrocortisone is a synthetic corticosteroid with moderate glucocorticoid potency and much greater mineralocorticoid potency.The brand name in the U.S...
,
midodrineMidodrine is a vasopressor/antihypotensive agent, it is an odorless, white, crystalline powder, soluble in water and sparingly soluble in methanol.-Mechanism of Action:...
,
ephedrineEphedrine is a sympathomimetic amine commonly used as a stimulant, appetite suppressant, concentration aid, decongestant, and to treat hypotension associated with anaesthesia. Ephedrine is similar in structure to the synthetic derivatives amphetamine and methamphetamine...
and
SSRIs Selective serotonin reuptake inhibitors or serotonin-specific reuptake inhibitor are a class of compounds typically used as antidepressants in the treatment of depression, anxiety disorders, and some personality disorders...
can also be used to treat symptoms. Treating dysautonomia can be difficult. Treatment that helps one individual may actually worsen the symptoms of another. Often drugs and measures that are helpful are found through trial and error.
Prognosis
The outlook for patients with dysautonomia depends on the particular diagnostic category. Most forms of dysautonomia resolve within 2-3 years and are not life threatening, even if life changing in the form of minor to major limitations in activities of daily living. However patients with
Ehlers-Danlos SyndromeEhlers-Danlos Syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
or
Marfan SyndromeMarfan syndrome is a genetic disorder of the connective tissue.It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected...
have a chronic, progressive, generalized form of dysautonomia in the setting of central nervous system degeneration, leading to a generally poor long-term prognosis. Death can occur in young children and the elderly. Patients can die from pneumonia, acute respiratory failure, or sudden cardiopulmonary arrest.
There is some evidence that dysautonomia may be a factor in SIDS (
sudden infant death syndromeSudden infant death syndrome or crib death is a syndrome marked by the sudden death of an infant that is unexpected by history and remains unexplained after a thorough forensic autopsy and a detailed death scene investigation...
).
History
In the nineteenth and earlier twentieth centuries, a diagnosis that was almost solely given to women was called "
neurastheniaNeurasthenia is a psycho-pathological term first used by George Miller Beard in 1869 to denote a condition with symptoms of fatigue, anxiety, headache, neuralgia and depressed mood.[The term had been used at least as early as 1829 to label a mechanical weakness of the actual...]
," or a "weak nervous system." (During World War One, doctors began to apply it to men exhibiting symptoms of what we now call post-traumatic stress disorder.) These women would present symptoms of fatigue, weakness, dizziness and fainting, and the doctor's orders would simply be
bed restBed rest is a medical treatment involving a period of consistent recumbence in bed. It is used as a treatment for an illness or medical condition, especially when prescribed or chosen rather than resulting from severe prostration or imminent death...
. Some of these women died, while many others recovered. No one understood where the problems came from.
With the advances in modern medicine, diagnostic criteria and treatment for various forms of dysautonomia have sharpened. Doctors and researchers are including males in their subject population for this disorder.
The prototype of dysautonomia is the ancient scourge of beriberi,a nutritional deficiency disease due to excess of simple carbohydrate and concomitant vitamin B1 deficiency. In the early stages this results in loss of functional efficiency in the central control mechanisms of the autonomic nervous system. If the nutritional deficiency continues, there is gradual degeneration of the system.Other vitamin deficiencies have been implicated in causing dysautonomia and unlike the genetically determined forms of the disease, are treatable.
See also
- Familial dysautonomia
Familial dysautonomia is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce...
- Dopamine beta hydroxylase deficiency
Dopamine beta hydroxylase deficiency is a condition involving inadequate Dopamine beta hydroxylase.-Symptoms:A deficiency of norepinephrine and epinephrine that causes orthostatic hypotension, nasal stuffiness, and droopy eyelids among other symptoms. Some people refer to this as norepinephrine...
- Postural Orthostatic Tachycardia Syndrome
Postural orthostatic tachycardia syndrome is a condition of dysautonomia, and more specifically, orthostatic intolerance, in which a change from the supine position to an upright position causes an abnormally large increase in heart rate, called tachycardia...
External links