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(G90.1) Familial dysautonomia [riley-day]
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150 012 in individuals diagnosis familial dysautonomia [riley-day] confirmed
24 962 deaths with diagnosis familial dysautonomia [riley-day]
17% mortality rate associated with the disease familial dysautonomia [riley-day]
Diagnosis familial dysautonomia [riley-day] is diagnosed Women are 4.87% more likely than Men
71 353
Men receive the diagnosis familial dysautonomia [riley-day]
12 730 (17.8 %)Died from this diagnosis.
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78 659
Women receive the diagnosis familial dysautonomia [riley-day]
12 232 (15.6 %)Died from this diagnosis.
Risk Group for the Disease familial dysautonomia [riley-day] - Men aged 60-64 and Women aged 15-19
In Men diagnosis is most often set at age 0-95+
in in men, the disease manifests at any agein in women, the disease manifests at any age
In Women diagnosis is most often set at age 0-95+
Disease Features familial dysautonomia [riley-day]
Absence or low individual and public risk
Familial dysautonomia [riley-day] - what does this mean
Familial dysautonomia (also known as riley-day syndrome) is an inherited disorder that affects the autonomic nervous system, which controls functions such as blood pressure, heart rate, and digestion. it is caused by mutations in the ikbkap gene, which is responsible for producing a protein that helps regulate the autonomic nervous system. symptoms of the disorder include low blood pressure, poor temperature regulation, impaired vision, and difficulty swallowing.
What happens during the disease - familial dysautonomia [riley-day]
Familial dysautonomia (riley-day) is an inherited disorder caused by a mutation in the ikbkap gene, which is responsible for the production of the protein ikap. this protein helps regulate the autonomic nervous system, which controls involuntary functions such as breathing, heart rate, and digestion. without this protein, the autonomic nervous system does not function properly, leading to the symptoms of familial dysautonomia, such as poor temperature regulation, abnormal sweating, and decreased sensitivity to pain.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- Assessment of autonomic nervous system function
- Genetic testing for mutations in the IKBKAP gene
- Blood tests to measure the levels of catecholamines
- Urine tests to measure the levels of catecholamines
- Neurological imaging studies such as MRI
- Electrodiagnostic tests such as electromyography (EMG)
- Sweat test to measure the amount of chloride in sweat
Treatment and Medical Assistance
Main Goal: To improve the quality of life of the patient with Familial Dysautonomia (Riley-Day).
- Regular physical and occupational therapy to help maintain mobility and strength.
- Frequent monitoring of vital signs and other medical tests to detect any changes in the patient's condition.
- A balanced diet with adequate nutrients and fluids to prevent dehydration.
- Regular monitoring of blood pressure and heart rate to detect any changes.
- Medications to help control symptoms such as nausea, vomiting, and diarrhea.
- Regular eye exams to detect any changes in vision.
- Counseling and support to help the patient and family cope with the disease.
- Regular exercise to help maintain strength and mobility.
- Regular monitoring of the airway to detect any changes in breathing.
20 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Familial dysautonomia [riley-day] - Prevention
Familial dysautonomia [riley-day] is a genetic disorder that can be prevented by pre-conception genetic testing and counselling. this can help couples identify if they are carriers of the gene and make informed decisions about their reproductive options. additionally, genetic counselling can provide information about the risk of passing the disorder to future children.