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Citation:
Iqbal S, Bell D, Riley-Day syndrome. Reference article, Radiopaedia.org (Accessed on 28 Mar 2025) https://doi.org/10.53347/rID-83846
Riley-Day syndrome, also known as familial dysautonomia, is a rare neurodevelopmental genetic autosomal recessive disorder that primarily affects the autonomic nervous system 1,9.
Familial dysautonomia is more common in Ashkenazi Jews 1.
Recurrent aspiration pneumonia secondary to dysphagia is the main cause of recurrent hospital admissions and mortality 2,9.
Other presenting features include 3,5,7,10:
In familial dysautonomia, a decreased amount of dopamine beta-hydroxylase in the blood is noted leading to recurrent vomiting. Moreover, two mutations of chromosome 9 have been identified, primarily in the IKBKAP gene 6. There is also a decreased number of unmyelinated nerve fibres that is thought to cause a sensory neuropathy 5.
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1. Yatsu F. Familial Dysautonomia (Riley-Day Syndrome). Arch Neurol. 1964;10(5):459. doi:10.1001/archneur.1964.00460170029004 - Pubmed
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2. Maayan H. Respiratory Aspects of Riley-Day Syndrome: Familial Dysautonomia. Paediatr Respir Rev. 2006;7 Suppl 1:S258-9. doi:10.1016/j.prrv.2006.04.184 - Pubmed
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3. Ochoa J. Familial Dysautonomia (Riley-Day Syndrome) May Be Associated with Epilepsy. Epilepsia. 2003;44(3):472. doi:10.1046/j.1528-1157.2003.52802.x - Pubmed
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4. Shetty A, Parikh P, Khubchandani R. Familial Dysautonomia (Riley-Day Syndrome). Indian J Pediatr. 1995;62(3):367-9. doi:10.1007/bf02753604 - Pubmed
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5. Tonholo-Silva E, Takahashi S, Yoshinaga L. Familial Dysautonomia (Riley-Day Syndrome). Arq Neuropsiquiatr. 1994;52(1):103-5. doi:10.1590/s0004-282x1994000100021 - Pubmed
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6. Slaugenhaupt S & Gusella J. Familial Dysautonomia. Curr Opin Genet Dev. 2002;12(3):307-11. doi:10.1016/s0959-437x(02)00303-9 - Pubmed
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7. Laplaza FJ, Turajane T, Axelrod FB, Burke SW. Nonspinal orthopaedic problems in familial dysautonomia (Riley-Day syndrome). J Pediatr Orthop. 2001 Mar-Apr;21(2):229-32. PMID: 11242256.
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8. Luft F. Better Days Are Coming for Riley-Day Patients. J Mol Med (Berl). 2007;85(2):99-101. doi:10.1007/s00109-006-0144-3 - Pubmed
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9. Axelrod F. Familial Dysautonomia. Muscle Nerve. 2004;29(3):352-63. doi:10.1002/mus.10499 - Pubmed
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10. Palma J, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H. Current Treatments in Familial Dysautonomia. Expert Opin Pharmacother. 2014;15(18):2653-71. doi:10.1517/14656566.2014.970530 - Pubmed
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11. Bar-Aluma B. Familial Dysautonomia. 1993. - Pubmed
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