Familial dysautonomia (Riley-Day syndrome)

Familial dysautonomia, also known as Riley-Day syndrome, is an inherited disorder that causes sensory dysfunction and severely affects the activity of the autonomic nervous system, resulting in multisystem dysfunction.

Familial dysautonomia (FD) was described in 1949 by Riley et al. It is a disease almost exclusive to the Ashkenazi Jewish population, with an incidence of 1 case per 3,600 births.

It is a disease that follows an autosomal recessive mode of inheritance and is caused by mutations in the ELP1 gene also known as IKBKAP which codes for a protein that is expressed in all tissues and is involved in gene transcription.

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Symptoms

Patients with FD present with generalized somatosensory and autonomic deficits, caused by altered transmission of nociceptive, thermal, mechanical, chemical, metabolic and osmotic information from the body to the brain. They may also present gastrointestinal dysfunction, recurrent pneumonias, variations in blood pressure, postural hypotension and hypotonia.

Diagnosis is based on clinical recognition of both sensory and autonomic dysfunction. Characteristic criteria include alacrymia (no tears), lack of fungiform papillae on the tongue, depressed patellar reflexes and abnormal histamine testing.

Disease management

Available pharmacological treatments are intended to alleviate the symptoms of patients with dysautonomia as no specific treatment is currently available.

People with FD require follow-up by a multidisciplinary team including neurologists, physiotherapists, cardiologists, nephrologists, ophthalmologists, and other professionals.

It is recommended that patients avoid hot and humid environments.

Genes analyzed

ELP1

Bibliography

Anderson SL, Qiu J, Rubin BY. EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. Biochem Biophys Res Commun. 2003 Oct 17;310(2):627-33.

Bar-Aluma BE. Familial Dysautonomia. 2003 Jan 21 [updated 2021 Nov 4]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017 Dec 15;10:95-103.

Slaugenhaupt SA, Blumenfeld A, Gill SP, et al . Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001 Mar;68(3):598-605.

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