Familial dysautonomia
Synonyms: HSAN3 | Hereditary sensory and autonomic neuropathy type 3 | Hereditary sensory and autonomic neuropathy type III | Riley-Day syndrome
A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception absent deep tendon reflexes proprioceptive ataxia afferent baroreflex failure and progressive optic neuropathy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Familial dysautonomia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Dysautonomia Support Network
Dysautonomia Support Network’s Mission is to provide a Community that Empowers and Supports those impacted by dysautonomia to live their best lives. DSN provides support through community, virtual support group meetings and amazing resources such as Handouts, Handbooks and our Dyscovery Education video series.
Familial Dysautonomia Foundation
THE DYSAUTONOMIA FOUNDATION SUPPORTS AND OPERATES PROGRAMS FOCUSED ON THE MEDICAL CARE, RESEARCH, SOCIAL SERVICES, AND PUBLIC EDUCATION FOR THE BENEFIT OF PEOPLE AFFECTED BY OR AT RISK FOR FAMILIAL DYSAUTONOMIA.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.