Introduction
Riley-Day syndrome is also called familial dysautonomia, which affects the nervous system which is inherited. It is a rare condition, which affects breathing, salivating, forming tears, and controls body temperature and body pressure. Diagnosis of this condition is done through some specific genetic tests. familial dysautonomia is treated through medication, therapy, and surgery. The life expectancies for people with familial dysautonomia is short.
What Is Meant by Familial Dysautonomia?
Familial dysautonomia is a condition that is present from birth and affects the nervous system of the affected person. Familial dysautonomia condition affects the involuntary actions of the body, such as:
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Breathing.
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Digestion.
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Forming tears.
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Regulate the body pressure.
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Regulates the body temperature.
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Salivation.
This condition also affects the person’s sensory nervous system, which includes:
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Taste sensation.
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Pain and temperature sensitivity.
Familial dysautonomia condition is caused due to mutation of genes that are passed down from parents to children. Familial dysautonomia syndrome can enhance the risk of developmental delay and short life span.
What Are the Causes of This Condition?
Mutation (genetic changes) results in familial dysautonomia. Both the parents of the affected person should carry a mutated gene called ELP1. This ELP1 gene is involved in making a protein that deals with the development of the nervous system. If this gene is mutated then problems occur in the nervous system.
What Are the Symptoms of This Condition?
The signs and symptoms of familial dysautonomia begin in infancy, and the early symptoms include
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Difficulty feeding.
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Dysphagia (difficulty in swallowing).
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Inability to maintain body temperature.
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The leak of tears while crying.
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Poor growth.
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Hypotonia (poor growth).
As the child grows, they may tend to hold their breath for a longer time. Such breath-holding behavior ceases by six years of age. As the impact of the disease enhances the symptoms may include:
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Arrhythmia (abnormal heart rhythm).
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Abnormal taste sensation.
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Scoliosis (abnormal curvature of the spine).
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Balancing problem.
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Gait issues.
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Bedwetting.
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Chronic acid reflux (GERD).
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Developmental delays like delayed speech and trouble walking.
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Excessive saliva.
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Eye conditions like dry eyes and strabismus (crossed eyes).
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Not able to feel pain and temperature alterations.
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Low vision or loss of vision.
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Lung infections.
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Osteoporosis (poor quality of bone).
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Enhanced risk of bone fracture.
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Low control of breathing when sleeping.
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Epilepsy (seizures).
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Vomiting.
Those people who are affected by familial dysautonomia have issues regulating blood pressure. This can result in low blood pressure (orthostatic hypotension) while sitting, which can lead to dizziness or fainting. Hypertension (high blood pressure) may result in kidney failure. About 40 % of people affected by familial dysautonomia have some period when the symptoms get worse, during which they may experience certain symptoms such as:
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Fever.
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Heart palpitation.
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High blood pressure.
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Sweating.
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Vomiting.
How Is This Condition Diagnosed?
Initially, the doctor does a physical examination and gets to know about the signs and symptoms experienced by the affected person. The doctors look out for tears when the affected person cries, and for children under the age of six Schirmer test is done:
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The end of a filter paper is placed at the corner of the child’s lower lid.
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After about five minutes, if the wetness is lower than 10 ml, then there are chances of the child being affected by familial dysautonomia.
The Doctor Also Looks For
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Reduced Tendon Reflexes:
When the person is affected by this condition, they will not react to taps on the muscle.
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Reaction to Histamine Injections:
If the person is affected by familial dysautonomia, they will not experience any redness or swelling.
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Reaction to Eye Drops:
If the person is affected by this condition, they may get smaller pupils after about 20 minutes.
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Smooth-Looking Tongue:
If the person is affected by familial dysautonomia, the person may have taste buds in the center and back of the tongue (fungiform papilla).
If the doctor suspects a familial dysautonomia condition, they may recommend genetic testing, which includes a blood test to check for gene changes that may result in familial dysautonomia.
How Is This Condition Treated?
Treatment of familial dysautonomia focuses on reducing the signs and symptoms, which may include:
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To treat lung infections doctors recommend antibiotics or chest physiotherapy.
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To treat orthostatic hypotension, doctors may recommend compression socks or permanent pacemakers.
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CPAP (continuous positive airway pressure) or bilevel positive airway pressure is used to deal with breathing difficulties during sleep.
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Eye drops protect corneas.
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IV fluids are used to rehydrate after vomiting.
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Medications are used to deal with kidney disease, saliva production, seizure, and vomiting.
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Occupational therapy to deal with day-to-day activities.
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Physical therapy to enhance balance.
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Surgery to deal with spine issues.
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Tube feeding for enhanced nutrition.
New treatments are being researched, which may treat the condition, and not only the signs and symptoms.
How Can the Risk of This Condition Be Reduced?
The risk of familial dysautonomia cannot be reduced, instead, the signs and symptoms should be monitored and treated if required.
What Are the Preventive Measures?
Complications can be reduced if:
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Avoid hot or humid conditions.
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Avoid stressful situations.
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Avoid long car rides.
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Try to avoid a full bladder.
The person should also receive regular and proper monitoring from the doctor. These people should check:
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Blood pressure.
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Eyes.
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Kidney function.
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Respiratory function.
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Spine.
What Are the Complications?
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General:
The severity of the complication differs for different people, Complications occur as many bodies systems are affected due to defects in the nervous system, which include fever, recurrent infections, and insomnia.
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Neurological:
These complications result in autonomic dysfunctions, seizure, reduced ability to feel pain and temperature, unsteady gait, tremor, reduced muscle tone, and reduced deep tone reflexes.
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Cardiovascular:
These complications include reduced orthostatic blood pressure with no syncope, changed vascular tone, and changed respiratory sinus arrhythmia.
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Skeletal:
These complications include lordosis, recurrent fracture, delayed bone age, and neuropathic joints.
Conclusion
Familial dysautonomia is a genetic disorder which affects the nervous system. This condition may affect involuntary actions like breathing, digestion, forming tears, controlling the body temperature, blood pressure, and salivation. They also affect sensation of taste and pain and temperature sensitivity. There is no permanent cure for familial dysautonomia, but there is treatment and medication available to reduce the signs and symptoms of this condition. People affected with this condition will have reduced life span.
