When Flynn-Aird syndrome is a rare malformation syndrome of the central nervous system, also known as hereditary neuroektodermales syndrome is known. The cause of the symptoms is a genetic disorder during embryonic development. A causal therapy is not yet available.
What is Flynn-Aird Syndrome?
According to GRADINMATH.COM, Flynn-Aird syndrome is a complex of symptoms from the group of malformation syndromes. The complex is often referred to as a neuroecrodermal syndrome. The neoectoderm is part of the outer cotyledon of the embryo and develops from the neural plate during embryonic development.
This process is also known as neurulation and its goal is the formation of the nervous system. In Flynn-Aird syndrome, there is an abnormal development of the nervous system. The result is deafness caused by the central nervous system. In addition, patients with the syndrome show dermal symptoms and skeletal abnormalities. In the 20th century, the American neurologists P. Flynn and Robert B. Aird described the complex of symptoms for the first time.
In their honor, the symptom complex is now called Flynn-Aird syndrome. The prevalence of the syndrome is extremely low, with a frequency of one case in 1,000,000 people. This makes neuroectodermal syndrome an extremely rare malformation disease. Because of the low frequency of the disease, research into the syndrome is far from over, but is in its infancy.
Causes
Flynn-Aird syndrome is not sporadic. A familial accumulation could be observed. Flynn and Aird described the symptom complex in ten members of the same family who had the symptoms of the syndrome in five generations. A gender-specific preference could not be documented. This familial accumulation points to a genetic hereditary disposition.
Apparently inheritance takes place in an autosomal dominant mode of inheritance. The cause of the individual symptoms of the syndrome is a disturbed embryonic development. The phase of neurulation occurs incompletely or incorrectly and thus causes the symptom complex. It has not yet been conclusively clarified whether, in addition to the genetic basis, exposure to toxins or similar factors promote the development of the syndrome.
It is also not yet clear which processes exactly disrupt the neurulation of the patient. Apparently, enzymatic defects play a causal role in the symptom complex and prevent the development or differentiation of neuroectodermal tissue. It is still unclear whether genetic mutations are relevant in this context.
Symptoms, ailments & signs
Like all syndromes, Flynn-Aird syndrome is a complex of various clinical abnormalities. One of the most important clinical symptoms of the syndrome is bilateral inner ear or sensorineural hearing loss, which can develop into central deafness and in most cases occurs in late school age.
Another symptom related to the nervous system is muscle atrophy in patients, which is often associated with joint stiffness. The eyes of those affected also usually show clinical abnormalities, such as cataract, myopia or inflammatory retinitis pigmentosa. The patient’s motor apparatus is characterized by ataxia.
There may also be signs of peripheral neuritis. In some cases, patients also have epilepsy or develop dementia abnormally early. The dermal symptoms mainly include subcutaneous and skin atrophies. Sometimes the dermal and central nervous symptoms are associated with significant dental caries.
The skeletal system can show bone cysts and osteoporosis. In addition, in some cases the glandular system is affected by abnormalities. Due to the inclusion of several tissues, the Flynn-Aird syndrome can also be described as a multi-tissue disease.
Diagnosis
The diagnosis of Flynn-Aird syndrome is usually not made by the doctor immediately after the birth. The diagnosis may not be made until adulthood, especially if the individual symptoms are mild. The most important diagnostic tool associated with the syndrome is X-ray imaging.
The patient’s x-ray usually shows osteoporosis, kyphoscoliosis, or bone cysts. A laboratory diagnostic analysis of the urine can confirm the first suspected diagnosis. The 17-ketosteroid excretion of the patients is reduced. If neurological deficits can also be demonstrated, the diagnosis is considered to be relatively certain.
In the differential diagnosis, the symptomatically similar Werner syndrome, Refsum syndrome or Cockayne syndrome must be excluded. The Scleroderma differential diagnosis to be considered. Flynn-Aird syndrome is a progressive disease, the symptoms of which increase over the years. For this reason, the prognosis is not considered particularly favorable. A lethal course has not yet been observed.
Complications
A very serious complication that occurs with Flynn-Aird syndrome is hearing loss. It does not necessarily have to be innate, but can develop in the course of the patient’s life. In most cases, at school age, hearing loss or complete hearing loss occurs.
Children in particular are severely affected by this symptom, which can also have a negative effect on the psychological state. Loss of hearing leads to depression in many of those affected. The Flynn-Aird syndrome also leads to joint stiffness.
As a result, physical work or sports cannot be carried out easily. In some cases, this causes pain. The risk of epilepsy is also increased. Caries often form in the oral cavity.
Treatment is not possible for Flynn-Aird syndrome. However, many symptoms can be limited and controlled. As long as there is no complete hearing loss, hearing aids can be used. Dental caries is treated by a dentist and can be combated relatively well.
Joint stiffness can also be treated in the course of physiotherapy. There are usually no further complications or complaints during treatment. However, regular check-ups by the doctor are necessary.
When should you go to the doctor?
In the case of Flynn-Aird syndrome, a doctor must be consulted in any case. This disease usually does not heal itself and the symptoms continue to worsen. Because of this, patients always need treatment. The doctor should be seen if the patient suddenly has hearing problems for no particular reason. These can also lead to complete deafness. The affected person’s joints often appear stiff and cannot easily be moved.
Eye discomfort can also indicate Flynn-Aird syndrome and should be investigated. Many patients also suffer from dementia or epilepsy. Caries is also one of the symptoms of Flynn-Aird syndrome, and the surrounding nervous system can also be affected. Usually, Flynn-Aird syndrome can be diagnosed by a general practitioner or a pediatrician.
Treatment is then carried out by various specialists, as the disease is only treated symptomatically. Many of those affected and their relatives are dependent on psychological treatment and care. This should always be done by a psychologist to avoid further complications and complaints.
Treatment & Therapy
There is currently no causal therapy for patients with Flynn-Aird syndrome. Since the syndrome apparently has a genetic basis, gene therapy would be particularly indicated as a causal therapy. Gene therapy measures are currently the subject of research in medicine. So far, however, they cannot be used without hesitation. Therefore, only symptomatic treatments are currently available for the syndrome.
Symptomatic treatment includes, for example, surgical removal and further monitoring of the bone cysts. The patient’s tendency to caries is treated by the dentist. In this context, dietary measures can also be successful. The skin anomalies are treated dermatologically with medication. Central nervous symptoms such as ataxia can be dealt with through supportive supportive care through physical and occupational therapy.
Symptoms such as dementia or progressive hearing loss are difficult to treat, however. The situation is different with osteoporosis, for example, which can at least be reduced with dietary measures and medication. The regular controls of the skeleton, which ensure prompt intervention in the event of an emergency, are particularly important.
Outlook & forecast
The cause of Flynn-Aird syndrome cannot be treated to date. If the individual symptoms are identified and treated at an early stage, the prognosis is still relatively good. Most of the time, those affected can lead a completely normal life. Any hearing problems or stiffness can be alleviated by various aids. People who suffer from Flynn-Aird syndrome can then pursue a normal job despite being ill and usually move about without pain.
A well-adjusted medication also counteracts the typical symptoms. However, additional side effects can never be completely ruled out. If postural problems, fractures or other complications have already occurred as a result of the restricted mobility, the prognosis is less positive.
Then the sick often suffer from other complaints for the rest of their lives, which in the long term also affect their mental state. This can lead to depression and personality changes that require comprehensive therapy.
Hearing problems or stiffness are also usually a major burden for the sick, especially if they are recognized too late and treatment is no longer possible. In general, however, the prospect of a relatively symptom-free life is relatively good.
Prevention
Flynn-Aird syndrome is a genetic disease, the context of which has not been conclusively clarified. Therefore, the only preventive measure available so far is a decision against own children if the syndrome runs in the family.
Aftercare
In most cases of Flynn-Aird syndrome, the patient has no direct follow-up options. The person concerned is first dependent on the medical treatment of this disease in order to prevent further complaints or complications. Since it is a genetic disease, a complete cure of Flynn-Aird syndrome is not possible.
If the person concerned wishes to have children, genetic counseling can also be carried out in order to prevent the syndrome from being passed on to descendants. In most cases, the symptoms of the teeth are treated by a dentist. This must be visited regularly in order to identify and treat damage at an early stage.
In the case of children, the parents in particular have to pay attention to the regular visits. Furthermore, a healthy lifestyle with a healthy diet should be observed in order to alleviate the symptoms of Flynn-Aird syndrome. In many cases, the patients are also dependent on the measures of physiotherapy.
Some of the exercises from this therapy can also be performed in your own home, which may accelerate healing. Contact with other patients with Flynn-Aird syndrome can also be useful.
You can do that yourself
Flynn-Aird syndrome is considered a hereditary and incurable chronic disease. Accordingly, independent everyday help is difficult. The only way to help yourself is to alleviate the accompanying symptoms.
For example, muscle atrophy and joint stiffness occur in those affected. These phenomena can be prevented through exercise. In this way, consequential damage can be avoided under certain circumstances. A possible ataxia can also be avoided in this way. It is important that the patient’s personal limits are taken into account.
With regard to the impairment of vision, it is advisable to secure the apartment of those affected accordingly. It makes sense to pad dangerous edges and protrusions. In addition, there should be enough light sources for the evening and night.
Another focus should be on daily dental care, as those affected tend to develop a lot of tooth decay. Patients should pay more attention to oral hygiene. A low-sugar diet and a largely renouncement of aggressive acids can also reduce the risk of tooth decay.
These methods cannot directly counteract Flynn-Aird syndrome. However, these self-help strategies can reduce accompanying symptoms and the associated physical and psychological stress.
