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Topic:  What is Dysautonomia?
Synonym(s):   Autonomic Dysfunction, Familial Dysautonomia, Riley-Day Syndrome

Table of Contents (click to jump to sections)
What is Dysautonomia?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations

What is Dysautonomia?
Dysautonomia refers to a disorder of autonomic nervous system (ANS) function. Most physicians view dysautonomia in terms of failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive ANS activities also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive. Several common conditions such as diabetes and alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity can present as hypertension or a rapid pulse rate.

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

 

For a better understanding of Dysautonomia see:

The History, Physical and Laboratory Examination 76. Clinical Evidence of Dysautonomia

Michael J. Reichgott

Definition

Dysautonomia refers to an abnormality of function of the autonomic nervous system. There are two divisions of the autonomic nervous system: the sympathetic and the parasympathetic. Although the latter occasionally may be involved, abnormal function of the sympathetic division produces the most striking symptoms of dysautonomic syndromes. The term orthostatic hypotension is often used as a synonym for dysautonomia. It is the most dramatic of the symptoms and is the one that most often brings the patient to the physician, but it is not an adequate description of the full dysautonomic syndrome.

Dysautonomia is not a single disease process.

http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=cm.chapter.2535

 

Familial Dysautonomia

What is Familial Dysautonomia?

Genetic Conditions 
Familial dysautonomia
On this page:
Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions
Reviewed May 2007
What is familial dysautonomia?
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.

http://ghr.nlm.nih.gov/condition=familialdysautonomia

Familial Dysautonomia
[Hereditary Sensory and Autonomic Neuropathy, Type III; Riley-Day Syndrome; HSAN III]

Authors:  Mordechai Shohat, MD
Gabrielle J Halpern, MB, ChB

Summary
Disease characteristics.  Familial dysautonomia (FD) affects the development and survival of sensory, sympathetic, and parasympathetic neurons. It is a debilitating disease present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature, and cardiovascular instability. About 40% of individuals have autonomic crises. Hypotonia contributes to delay in acquisition of motor milestones. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Life expectancy is decreased.

Diagnosis/testing.  The diagnosis of FD is established by molecular genetic testing of the IKBKAP gene. Such testing is available clinically. Two mutations account for more than 99% of mutant alleles in individuals with FD of Ashkenazi Jewish descent. IVS20(+6T>C), the major founder mutation, is responsible for virtually all occurrences of FD among the Ashkenazim.

http://www.geneclinics.org/profiles/fd/index.html

 

Testing sites:

Familial Dysautonomia | HSAN III | Hereditary Sensory and Autonomic Neuropathy, Type III | Riley-Day Syndrome

http://www.genetests.org/servlet/access?prg=j&db=genetests&site=gt&id=8888890&fcn=c&qry=2865&res=nous&res=nointl&key=uYjme4cg4K8ws&show_flag=c

 

Information about genetic mutations that cause HSAN III (FD):

HSAN III (FD): http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKAP&search=dysautonomia

 

Topic:  Hereditary and Pheripheral Neuropathies. 

What are Hereditary Neuropathies?
Hereditary neuropathies are a group of inherited disorders of the peripheral nervous system. Within the group there are 4 subcategories of disorders, including hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. Symptoms of these disorders vary and may include numbness and tingling in the feet and hands, muscle weakness (especially in the distal muscles), scoliosis, thin lower legs, foot deformities, insensitivity to pain, and autonomic symptoms such as impaired sweating, postural hypotension, and skin blotching.

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

What is peripheral neuropathy?
Peripheral neuropathy describes damage to the peripheral nervous system, the vast communications network that transmits information from the brain and spinal cord (the central nervous system) to every other part of the body. Peripheral nerves also send sensory information back to the brain and spinal cord, such as a message that the feet are cold or a finger is burned. Damage to the peripheral nervous system interferes with these vital connections.

http://www.ninds.nih.gov/disorders/peripheralneuropathy/detail_peripheralneuropathy.htm

 

Topic: Other HSAN's ( HSAN I, HSAN II, HSAN IV, HSAN V). 

Testing, Information about genetic mutations that cause HSAN's:

HSAN I testing: Hereditary Sensory Neuropathy Type I | HSAN1 | HSN1 | Hereditary Sensory and Autonomic Neuropathy Type 1

http://www.genetests.org/servlet/access?prg=j&db=genetests&site=gt&id=8888890&fcn=c&qry=74111&res=nous&res=nointl&key=uYjme4cg4K8ws&show_flag=c

 

HSAN II testing: Hereditary Sensory Neuropathy Type II | HSAN2 | Hereditary Sensory and Autonomic Neuropathy, Type II

http://www.genetests.org/servlet/access?prg=j&db=genetests&site=gt&id=8888890&fcn=c&qry=248981&res=nous&res=nointl&key=uYjme4cg4K8ws&show_flag=c

HSAN III is listed with information about Familial Dysautonomia, AKA "Riley Day Syndrome".

HSAN IV (Congenital Insensitivity to Pain with Anhidrosis) testing:

http://www.genetests.org/servlet/access?prg=j&db=genetests&site=gt&id=8888890&fcn=c&qry=83658&res=nous&res=nointl&key=uYjme4cg4K8ws&show_flag=c

HSAN V (Congenital Insensitivity to Pain) testing:

http://www.genetests.org/servlet/access?prg=j&db=genetests&site=gt&id=8888890&fcn=c&qry=293880&res=nous&res=nointl&key=uYjme4cg4K8ws&show_flag=

 

Information about genetic mutations that cause HSANs:

HSAN I: http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTLC1&search=hsan

HSAN II: http://www.genecards.org/cgi-bin/carddisp.pl?gene=HSN2&search=hsan

HSAN III (FD): http://www.genecards.org/cgi-bin/carddisp.pl?gene=IKBKAP&search=dysautonomia

HSAN IV: http://www.genecards.org/cgi-bin/carddisp.pl?gene=NTRK1&search=dysautonomia

HSAN V: http://www.genecards.org/cgi-bin/carddisp.pl?gene=NGFB&search=dysautonomia

 

Topic:   Other Familial Forms of Dysautonomia.

***This disorder runs though the families female members, they are all afected differently.  Some more severe than other members of the same family.  These female family members are born with this disorder. 

Orthostatic Intolerance and Tachycardia Associated with Norepinephrine-Transporter Deficiency
John R. Shannon, M.D., Nancy L. Flattem, B.S., Jens Jordan, M.D., Giris Jacob, M.D., D.Sc., Bonnie K. Black, B.S.N., Italo Biaggioni, M.D., Randy D. Blakely, Ph.D., and David Robertson, M.D. 

http://content.nejm.org/cgi/content/abstract/342/8/541

Information about genetic mutations that cause NET deficiency (norepinephrine transporter deficiency)

http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A2&search=norepinephrine&suff=txt

 

 Topic:   Catecholamine Disorders.

      Under Construction, please come back soon.

 

Topic:   Jewish Genetic Disease.  GET TESTED!
I did everything I could prior to having children, my husband and I were tested for Tay Sachs.  No one mentioned any other disorders.  I even had testing of the fetus amnio fluids to rule out genetic disease and disorders.  Computers were not readily available back then. Doctors had no clue what was wrong after my son was born and assured me over and over that he did not have one of those Jewish Genetic Diseases, he was just premature. After being reassured and knowing nothing about Familial Dsyautonomia, we had twins girls 17 months later.   The twins were less affected than my son, but it was really obvious they they all had something.

Today you can control the future of your family.  Now you can benefit from my families experience.  Get tested, search the web for more information and find a good OB-GYN and Genetics Doctor to help you.
Be educated.  Look to your left, then to your right, one in four of us has at least one of these genetic diseases in our families. 

     L'dor va-dor
"Generation to Generation"

Mendelian Disorders
Bloom's Syndrome
Canavan Disease
Cystic Fibrosis
Factor XI Deficiency
Familial Dysautonomia (Riley-Day syndrome)
Fanconi Anemia
Gaucher Disease
Mucolipidosis IV
Niemann-Pick Disease
Non-Classical Adrenal Hyperplasia
Nonsyndromic Hearing Loss
Tay-Sachs Disease
Torsion Dystonia

Disease Predisposition Genes

Breast Cancer (BRCA1 and BRCA2)
Familial Colon Cancer

 

Ashkenazi Jewish Carrier Test Panels

http://www.geneclinics.org/servlet/access?prg=j&db=genetests&site=gt&id=8888891&fcn=c&qry=293649&res=nous&res=nointl&key=EoA39ryG5tTlE&show_flag=c

 

Topic:   Articles

GENERAL INFORMATION BROCHURE ON NEURALLY MEDIATED HYPOTENSION AND ITS TREATMENT Neurally Mediated Hypotension Working Group

Johns Hopkins Hospital

Revised January 1997

This document has been prepared for those who have requested further information about neurally mediated hypotension.

What is neurally mediated hypotension?

Neurally mediated hypotension is also known by the following names: the fainting reflex, neurocardiogenic syncope, vasodepressor syncope, the vaso-vagal reflex, and autonomic dysfunction. Hypotension is the formal medical term for low blood pressure, and syncope is the term for fainting. Neurally mediated hypotension occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal.
 
http://home.vicnet.net.au/~mecfs/general/nmh1.html

Topic:  Articles
Dr's Berish Rubin and Sylvia Anderson of Fordham University.

The enclosed articles printed with permission from Fordham University, Doctors Berish Rubin and Sylvia Anderson.

Familial Dysautonomia Is Caused by Mutations of the IKAP Gene, 2001.

Genomic organization and chromosomal localization of the mouse IKBKAP gene, 2001.

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia, 2003.

Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia, 2003.

Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia, 2005.

Topic:   Electrolyte Therapy, Epilepsy.
Dr. Juan Ochoa's articles.

Familial Dysautonomia May Be Associated with Epilepsy, 2003.

Electrolyte Therapy for Refractory Seizures in Familial Dysautonomia, 2004.