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Familial Dysautonomia (Riley Day Syndrome)

An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
Also Known As:
Riley Day Syndrome; HSAN Type III; Hereditary-Sensory and Autonomic Neuropathy Type III; Dysautonomia, Familial; Dominant Hereditary Sensory Neuropathy, Type III; HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III; HSAN 3; Hereditary Sensory Neuropathy Type 3; Hereditary Sensory Neuropathy, Dominant, Type 3; Hereditary Sensory Neuropathy, Dominant, Type III; Hereditary Sensory Neuropathy, Type 3, Dominant; Hereditary Sensory and Autonomic Neuropathy 3; Type 3 Hereditary Sensory Neuropathy, Dominant; Type III Hereditary Sensory Neuropathy, Dominant; HSAN Type IIIs; Hereditary Sensory and Autonomic Neuropathy Type III; Neuropathy, Hereditary and Autonomic, Type III; Riley-Day Syndrome
Networked: 149 relevant articles (6 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Ataxia (Dyssynergia)
2. Vomiting
3. Nausea
4. Familial Dysautonomia (Riley Day Syndrome)
5. Canavan Disease (Leukodystrophy, Spongiform)

Experts

1. Axelrod, Felicia B: 19 articles (02/2013 - 03/2003)
2. Slaugenhaupt, Susan A: 10 articles (11/2011 - 03/2003)
3. Leyne, Maire: 8 articles (11/2011 - 03/2003)
4. Mull, James: 8 articles (11/2011 - 03/2003)
5. Kaufmann, Horacio: 7 articles (04/2014 - 09/2010)
6. Maayan, Channa: 6 articles (02/2014 - 03/2003)
7. Rubin, Berish Y: 6 articles (08/2013 - 06/2003)
8. Norcliffe-Kaufmann, Lucy: 5 articles (04/2014 - 11/2011)
9. Anderson, Sylvia L: 5 articles (08/2013 - 06/2003)
10. Axelrod, F B: 4 articles (09/2012 - 10/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Dysautonomia:
1. Methacholine Chloride (Methacholine)FDA Link
2. TocotrienolsIBA
3. Substance PIBA
4. Midazolam (Versed)FDA LinkGeneric
5. Insulin-Like Growth Factor I (IGF-1)IBA
6. Nerve Growth Factor (NGF)IBA
7. Messenger RNA (mRNA)IBA
8. Phosphotransferases (Kinase)IBA
9. Dopamine (Intropin)FDA LinkGeneric
10. Dopa DecarboxylaseIBA

Therapies and Procedures

1. Gastrostomy
2. Fundoplication
3. Chest Wall Oscillation
4. Autonomic Denervation
5. Anesthesia