Stickler syndrome is a hereditary disease that can usually be diagnosed in early childhood. Those affected suffer from several interacting disorders that, when correctly diagnosed, confirm Stickler syndrome. How does the hereditary disease progress and is there a chance of a cure?
What is Stickler Syndrome?
Stickler’s syndrome can be seen in childhood. The hereditary disease is congenital and affects the connective tissue in the body. The disease is autosomal dominant. This means that with this form of inheritance, a defective allele (expression of a gene) on one of the chromosomes is sufficient to express a characteristic of the disease. For what is icp used for, please visit fun-wiki.com.
Facial abnormalities, eye damage, hearing impairment, and joint changes are the most common symptoms that Stickler syndrome presents.
The German pediatrician Gunnar B. Stickler first spoke of Stickler syndrome in 1965. The signs and symptoms vary from person to person and also vary in severity. The cause, which belongs to the hereditary disease studied by Stickler, lies in the genetic mutation.
Three genes in the human body can be affected by this defect. These are the genes on chromosomes one, six and twelve. Depending on which gene is affected by this defect, Stickler syndrome is divided into different types, which also affect the human body in different ways.
Symptoms, Ailments & Signs
The severity and number of each symptom varies from person to person. Visual signs of the condition include a flat face and a small nose and chin. Hearing is severely impaired and can lead to total hearing loss over the course of the disease. Nearsightedness and joint problems at a young age are other signs of Stickler syndrome.
Cleft palate (a birth defect in newborns) and mitral valve prolapse syndrome (disease of the heart valve) are other conditions that suggest Stickler syndrome. Many people affected by Stickler syndrome suffer from a malformation of the skeleton. The joints are particularly affected.
Patients develop arthritis at an early age and often have severe spinal problems. In addition to the disease of the spine, stiffening of the joints is another characteristic and must be treated. Not all symptoms are already pronounced at birth, but only appear later in life.
Diagnosis & course of disease
Normal medical tests are not enough to be sure that it is Stickler syndrome. The only certainty is provided by a genetic test. A molecular test of the blood is carried out in an institute responsible for this, which can confirm the disease. Stickler syndrome is often confused with Marshall syndrome. The symptoms are similar to those of Stickler syndrome. However, in Marshall syndrome other genes are affected by the mutation.
Diagnosis will determine what type of Stickler syndrome it is:
- Type I has a very high risk of retinal detachment.
- In type II, in addition to the risk of retinal detachment, there is also a malformation of the eyes and possible hearing loss.
- If Type III Stickler syndrome is diagnosed, all ocular symptoms and a probable hearing loss are absent.
In addition to these three types, type IV and type V are also known. However, these two types are very rare and have only been diagnosed in a few patients. The course of the hereditary disease depends on the type of Stickler syndrome that is diagnosed in the affected person. In some cases, severe myopia leads to clouding of the lens and retinal detachment.
Increased eye pressure ( glaucoma ) and other eye malformations are possible. In severe but rare cases, the sufferer may go blind. Likewise, the degree of hearing loss depends on the type of Stickler syndrome. A complete loss of hearing can occur over the course of the disease.
Stickler syndrome is associated with a variety of symptoms that can lead to serious health complications as they progress. The initial hearing loss can progress to complete hearing loss as the disease progresses. Accompanying this, short-sightedness and joint problems can occur, which also worsen as the disease progresses.
Occasionally, a cleft palate can be accompanied by malpositions of the teeth and jaw, which, in addition to pain, also result in limitations in everyday life. Speech disorders and breathing difficulties can also develop. If arthritis is present, severe spinal problems, stiffening of the joints and other typical complications occur as Stickler syndrome progresses.
A disease of the heart valve can cause serious cardiac arrhythmia and, in the worst case, lead to heart failure. In general, many patients suffering from Stickler syndrome suffer from social exclusion and develop mental health problems as a result. The treatment is often associated with side effects and sometimes with serious complications.
Various problems can occur, especially during surgical interventions, due to the generally rather poor constitution of the patients. Occasionally, symptomatic measures such as an incorrectly adjusted hearing aid also cause symptoms.
When should you go to the doctor?
With Stickler syndrome, the patient is always dependent on medical treatment and examination by a doctor. If the disease is not treated, it can even lead to the death of the affected person in the worst case. Since it is a hereditary disease, it can only be treated symptomatically. A doctor should be consulted for Stickler syndrome if the child suffers from severe hearing problems. Usually there are also visual problems. Most patients suffer from myopia. If Stickler syndrome is left untreated, the affected person can also lose their hearing completely.
Stiff joints or muscle problems also indicate Stickler syndrome and must also be examined by a doctor. Most patients also show problems in the spine and suffer from restrictions in movement. If these symptoms occur, a general practitioner or pediatrician should be consulted. The respective complaints are then treated by a specialist. A complete cure is not possible. If the person concerned wishes to have children, genetic counseling can also be carried out so that the syndrome is not passed on to the descendants.
Treatment & Therapy
If Stickler syndrome is diagnosed, treatment is not possible due to many different genetic causes. If a therapy is initiated, this serves exclusively to alleviate and improve the symptoms. Regular monitoring of vision by an ophthalmologist or wearing a hearing aid is part of treatment.
In order to minimize physical damage and discomfort, care is provided by an orthopedist. Hearing tests by an audiologist are recommended to check hearing regularly. The error of the mitral valve usually remains untreated, since it causes almost no problems and is also not recognized in many cases.
In the case of malformations such as a cleft palate, surgery can correct physical abnormalities. There is no medication to cure Stickler syndrome. Medications administered are intended solely to control and alleviate symptoms.
The probability of suffering from Stickler syndrome is difficult to assess. The symptoms are often only very mild and the disease is not diagnosed. According to a study, more people suffer from Stickler syndrome without being recognized than people who have been diagnosed with the disease. The disease is mostly diagnosed in North America and Europe.
In these countries, great hope is also placed in the further development of medical possibilities. There is no way to prevent Stickler syndrome. However, if the first signs appear, a genetic test can provide information and the symptoms can be alleviated more quickly with prescribed therapies.
Follow-up care for Stickler syndrome includes various physical examinations and a comprehensive medical history. Due to the complex symptoms, follow-up care lasts for several years or decades. Follow-up care is provided by the responsible specialists. Depending on the symptoms, this can be an ophthalmologist, ENT doctor, dermatologist, dentist or orthopaedist.
Due to the complex nature of the symptoms, follow-up care sometimes lasts for many years. Then it is important to consult the doctor regularly. After an operation, such as that required for micrognathia or glossoptosis, follow-up care in the hospital is necessary. The patient must remain in the clinic for a few days while the surgical wound is monitored.
Once the surgical wound has healed, another follow-up call will take place in which any further operations will be discussed. Patients suffering from Stickler syndrome usually require a variety of surgeries. In addition, psychological support is usually necessary.
Follow-up care focuses on providing the patient with additional resources and support in their continued recovery. Since Stickler syndrome is a chronic disease with severe symptoms, therapy and aftercare go hand in hand. Follow-up care usually lasts a lifetime.
You can do that yourself
Stickler syndrome is a genetic disease and can therefore only be treated symptomatically. The patients usually have to undergo several operations and are then dependent on rest and protection. Important measures include wound care and observation of the surgical wound.
In the case of movement restrictions, which can occur in particular with joint diseases and orthopedic complaints, comprehensive physiotherapy is also necessary. Patients should move a lot and exert enough effort on the affected joints so that the disease at least does not progress any further. In addition to these measures, Stickler syndrome always requires close medical supervision. It is the patient’s responsibility to seek comprehensive medical care.
Depending on the severity of the hereditary vitreoretinopathy, therapeutic treatment may also be necessary. Together with a therapist, fears can be worked through and a high quality of life can slowly be restored. In order for this to succeed, an accompanying drug therapy is usually necessary in order to optimally alleviate any depression or chronic pain. If the conservative remedies are ineffective, homeopathic remedies can be tested. In addition, there are massages, autogenic training and other alternative treatment methods that can be implemented independently by those affected at home.