Dysautonomia

Dysautonomia is a serious medical problem that leads to the failure of many of the involuntary functions of the body. Read and find out all about the types, symptoms, causes, diagnosis and treatment of this disease.

What is Dysautonomia?

It refers to a group of disorders that affect the autonomic nervous system, the part of the nervous system which is responsible for bodily functions like breathing, swallowing and heartbeat. It leads to an imbalance of the system, thus affecting the various bodily processes that it helps manage.

Dysautonomia ICD 9 Code

The ICD 9 Code for this disorder is 337.9.

Dysautonomia Incidence

Up to 40% of the population is found to have this disorder. The condition is five times more likely to affect women than men.

Dysautonomia Types

The condition is differentiated into various types, which include:

Inappropriate Sinus Tachycardia (IST)

It is a rare form of cardiac arrhythmia that belongs to the disorder supraventricular tachycardia (SVT). It can arise due to a disturbance or failure in the functioning of the autonomic nervous system (as in Dysautonomia) or result from an unusual functioning or structure of the sinus node.

Mitral valve prolapse

It is characterized by the projection of either or both of the mitral valve cusps back into the left atrium at the time of ventricular systole. It results in mitral insufficiency and incomplete closure of the valve.

Neurally Mediated Hypotension (NMH)

The condition leads to difficulties in regulating the blood pressure, particularly in cases where a person stands upright. This appears to arise due to a lack of communication between the brain of patients and the nerves that are responsible for monitoring the heart rate and blood pressure. NMH sufferers usually experience sudden episodic drop in blood pressure, resulting in problems like:

• Sweating
• Dizziness
• Weakness
• Visual disturbances
• Fainting or near loss of consciousness
• Lightheadedness

In some episodes, certain patients have a feeling of some imminent danger or bad event when they remain standing and have an uncontrollable urge to sit down. The disorder is also known by other names, like “Fainting reflex”.

Neurocardiogenic syncope (NCS)

It is marked by a short-term loss of consciousness, related with a fall in arterial blood pressure that is rapidly followed by a reduction in heart rate. The fainting associated with NCS generally occurs while standing. Episodes of loss of consciousness are usually triggered by pain and events that cause emotional stress, particularly among young individuals. The disease is also known by other names like “Neurally mediated syncope” and “Vasovagal syncope”.

Postural Orthostatic Tachycardia Syndrome (POTS)

Also known as “Postural Tachycardia Syndrome”, it is characterized by an abnormally high increase in the heart rate (Tachycardia) when patients stand upright from a supine posture. Sufferers of this disorder experience problems in preserving metabolic equilibrium (Homeostasis) while changing postures. Many of them also suffer from such problems even when they are lying down or in a stationary position.

Shy Drager Syndrome

It is a progressive condition of the brain and spinal cord that impairs the activities of the autonomic nervous system. It is marked by problems like:

• Atrophy of the iris
• Absence of sweating
• Low blood pressure
• Incontinence
• Impotence in males
• Tremors
• Wasting of muscles

Vasovagal syncope

It is a physical uneasiness brought about by the vagus nerve and causes syncope or “Fainting.” Vasovagal syncope is the most common type of loss of consciousness. The disorder is also known by other names like Vasovagal attack, Neurocardiogenic syncope, Vasovagal response and Vasovagal episode.

Familial Dysautonomia

It is an autonomic nervous system disorder that affects the functioning and development of the sympathetic, parasympathetic and sensory nerves in the body. This gives rise to a number of physical issues, such as:

• Poor growth
• Insensitivity to pain
• Inability to produce tears
• Fluctuations in blood pressure

The condition results from a mutation of the gene IKBKAP located on Chromosome 9. An individual must inherit a copy of the mutated gene for each parent to get this disorder. The disease is more commonly observed in people of Eastern European Jewish origin. It is rare and has a low prevalence in the general population. It is, however, a life-threatening disorder. Only half of all sufferers of this disease are found to live up to 30 years of age.

The disease is also known by other names like Riley-Day Syndrome.

Autoimmune Dysautonomia

It covers a range of disorders of ganglionic neurons, autonomic nerve fibers, central autonomic pathways and peripheral autonomic synapses mediated by effector T or neural-specific IgG cells. These conditions may be insidious, idiopathic, paraneoplastic or subacute in onset and may manifest as a generalized pandysautonomia or a limited disorder.

Dysautonomia Symptoms

The symptoms of the condition are numerous and tend vary from one sufferer to another. This is due to the fact that the autonomic nervous system (ANS) regulates a number of diverse functions in the body. Each patient tends to experience diverse symptoms, making it difficult for physicians to diagnose and cure the ailment. The main symptoms, which are reported most commonly, include:

• Excessive thirst
• Excessive fatigue
• Dizziness, lightheadedness or vertigo
• Poor muscle coordination
• Difficulties in swallowing
• Indifference to pain
• Headaches
• Muscular spasms
• Anxiety or panic, possibly due to over-activation of the sympathetic nerves
• Reduced heart rate (Bradycardia) or rapid heart rate (Tachycardia)
• Low blood pressure in a standing posture, sometimes leading to a loss of consciousness (Syncope)

Some other physical problems associated with the disorder include:

• Pallor
• Malaise
• Seizures and fainting (in some cases)
• Constipation
• Diarrhea
• Nausea
• Mydriasis (abnormal pupil dilation)
• Craving for salt
• Flushed face
• Breathing troubles
• Numbness
• Pain in nerves
• Visual problems
• Gastroparesis (late gastric emptying)

Many patients are also found to suffer from depression, partly due to their difficulty in finding good physicians who can treat their condition. It often occurs that physicians tend to dismiss the symptoms, believing patients to be imagining them. This is because the problems are non-specific and hard to pinpoint. Doctors are frequently under the wrong assumption that patients do not actually have a medical disorder.

Dysautonomia Causes

The disorder may result from a number of factors and not a single, universal one. The causes of this disease have not been understood as yet. However, heredity is supposed to be its main causative agent. Variations of this condition have clearly been found to run in families and it is obvious that some patients inherit the susceptibility to this condition. In other words, people can be genetically prone to this disorder. Thus, heredity is supposed to be one of the main causative factors of it.

The disorder may also arise due to:

• Viral illnesses
• Exposure to chemicals
• Various types of injuries, particularly those caused to the chest and head

In such cases, the onset of the condition appears to be quite sudden.

Some other potential causes are:

• Autoimmune disorders
• Degenerative neurological disorders, like Parkinson’s disease
• Diabetes mellitus
• Lyme disease
• Mitochondrial disorders
• Injury to the spinal cord (Autonomic dysreflexia)
• Physical injury to the autonomic nervous system, resulting in its damage, as observed in Cerebral salt-wasting syndrome.

Dysautonomia Diagnosis

The diagnosis of the disorder usually involves an evaluation of the functioning of the nervous system of sufferers. Proper detection of the disease requires finding a physician who has an understanding of Dysautonomia. This is because the symptoms of the disease are severe enough and often far too many in numbers to be diagnosed by any physical or laboratory tests. This can make it difficult for physicians to diagnose the condition and there is every possibility that patients might be accused of blowing the problems out of proportion. They may also be suspected to be suffering from some mental disorder. Even patients who are taken seriously would be referred to a specialist in all probability. The type of specialist that the patient is referred to generally depends on the main symptoms that they are suffering from. For instance, patients who are mainly exhibiting constipation or diarrhea are likely to be referred to a Gastroenterologist.

The medical tests for the disorder usually involve:

• Electromyography (EMG)
• Breathing Tests
• Tilt-Table Test
• Quantitative Sudomotor Axon Reflex Test (QSART)
• Thermoregulatory Sweat Test
• Gastrointestinal Tests

Dysautonomia Treatment

The treatment of the condition is mainly aimed at controlling its symptoms and not curing the problem as such. This is because the actual underlying causes of the disease are still unclear. Doctors and medical researchers have only been able to suggest some of its possible causes and no specific cause as such.

The treatment of the disease is usually carried out in two ways:

Non-drug therapy

As the name indicates, this treatment approach does not involve use of any medications. It basically involves:

Dietary supplements

These are usually provided to patients to manage the condition and boost their health. In the absence of knowledge of a specific cause, patients are often recommended a number of herbal preparations, coenzymes and vitamins to provide them with relief from different types of Dysautonomia.

Physical activity

Patients are also advised to perform physical activity to an extent that is comfortable for them but effective enough to make the autonomic nervous system (ANS) stable again. Regular physical activity also helps make the recurrence of symptoms rarer in frequency and of lesser duration.

Drug therapy

This includes the usage of medicines that are found to be most effective in addressing the symptoms of the disease. These include:

Anti-anxiety drugs

These involve use of medications like Ativan and Xanax that help control anxiety symptoms, particularly in patients suffering from panic disorder.

Anti-low blood pressure drugs

Florinef is found to be effective in preventing the symptoms resulting from Orthostatic hypotension, a condition characterized by a reduction in blood pressure when a patient is in an upright posture. Orthostatic hypotension is the most notable symptom displayed by sufferers of POTS and vasovagal syncope.

Tricyclic antidepressants

These involve medicines like Pamelor, Norpramin and Elavil – which have been used in low doses for curing several types of Dysautonomia. In some cases, Paxil, Prozac, Zoloft and other Selective serotonin reuptake inhibitors (SSRIs) are also used for the treatment of this syndrome. In aces where they are found to be effective, SSRIs and tricyclics control any depression associated with Dysautonomia and also serve to stabilize the autonomic nervous system in some sufferers.

Non-steroidal antiinflammatory drugs

The painful symptoms associated with Dysautonomias, particularly Fibromyalgia, can be controlled with drugs like Aleve and Advil.

Dysautonomia Prognosis

The prognosis of the disorder differs on the basis of the symptoms that a patient is suffering from, due to Dysautonomia. Patients suffering from generalized, chronic and progressive cases of the disorder, along with degeneration of the Central Nervous System, are found to show a poor long-term outcome. In such patients, there can be complications like sudden cardiopulmonary arrest or acute respiratory failure. In worst cases, sufferers may even die due to pneumonia.

Dysautonomia Management

The management of this disease generally involves measures like:

• Frequent small meals
• High salt-diet
• Elevation of the head during sleeping
• Regular physical exercise

Dysautonomia in Dogs

The condition is mainly detected in young adult dogs. As per a medical study, a wide variety of breeds were found to be affected by the disease. Canines suffering from the disorder typically display signs like

• Weight loss
• Regurgitation
• Dysuria
• Photophobia
• Anorexia
• Purulent nasal discharge

The clinical symptoms lasted for about 2 weeks on an average. The diagnosis of the disease in canines usually requires a Pharmacologic testing of the pupils, complete neurologic exam and Thoracic radiographs. Symptomatic therapy, Cholinergic drugs, Pilocarpine eye drops, artificial tears and prokinetic drugs like metaclopramide are quite useful for treatment of the various symptoms arising due to the disorder.

Although Dysautonomia is incurable, the symptoms of its secondary forms have a chance to improve with proper treatment of its underlying condition. If you find the symptoms of the disease developing in any of your family members, seek medical assistance on an immediate basis to address the problems.

References:

http://my.clevelandclinic.org/disorders/dysautonomia/hic_dysautonomia.aspx

http://www.cvm.missouri.edu/neurology/Dysauton/DYSAUCVT.htm

http://en.wikipedia.org/wiki/Dysautonomia

http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm