The so-called Behr syndrome is one of the rarer hereditary diseases. The disease is degenerative, has disorders of the optic nerve and is associated with neurological damage.
What is Behr Syndrome?
The Behr syndrome was first described by the ophthalmologist Carl Julius Peter Behr, from whom the name is derived. In 1909 he carried out a study and was able to describe the disease more precisely based on forty cases.
Behr syndrome is optic atrophy with neurological effects. It can affect both men and women; the symptoms are observed early and are expressed in the first mild to more severe visual disturbances. This visual impairment is often accompanied by sensory nystagmus. These are the rhythmically uncontrolled movements of the eyes. There is a nystagmus that occurs pathological or physiological.
Behr syndrome is divided into two different diseases:
- Behr syndrome I is a combination of early onset and cerebellar ataxia, which is associated with optic atrophy, mental retardation and spasticity.
- If Behr syndrome II is meant, it is a rare and juvenile macular degeneration that is inherited in an autosomal recessive manner, with diseases of the retina in particular.
Behr syndrome is always an auto-recessive inherited disease. Both autosomal dominant and x-chromosal hereditary processes could be observed here, a gene mutation on which all of them are based has not yet been proven. The disease is likely to be genetically heterogeneous.
Within a family through inheritance, the neurological disorders occur in different ways. The most common defects are expressed in myoclonus epilepsy, progressive spastic paraplegia, which is associated with damage to the pyramidal tracts, in speech disorders, in extrapyramidal signs, in ataxia, inadequate giftedness and urinary incontinence. Those affected also have sensory disorders, as well as muscle spasms, which occur mainly in the legs and lower extremities.
Myoclonus epilepsy also causes rapid involuntary muscle twitching. The seizure is generalized, clonic, and multifocal. The course of the disease is accompanied by serious impairments.
The pyramidal tracts lie in the cerebral cortex, form the transition from the cerebrum to the spinal cord and transmit the impulses there. If these are disturbed, pyramid signs appear and symptoms of paralysis occur. Spastic paraplegia is hereditary, i.e. an inherited condition. The symptoms are spastic paralysis of the legs. The sick person is dependent on a wheelchair as the effects progress.
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Symptoms, ailments & signs
The first symptoms appear in childhood, usually from the age of two and three. Tissue atrophy on the optic nerve leads to a reduction in overall visual acuity and visual disturbances associated with the disease, which increase sharply over time. The vision of the field of vision is also severely narrowed, a scotoma occurs and the yellow spot in the central area of the retina changes.
Flickering or rotating light is perceived, which expands but does not affect the entire field of vision. The sudden appearance of such symptoms is mostly sporadic. Orientation in space is still possible, albeit severely restricted. Most children with Behr syndrome can barely walk and can only move within the house to a limited extent. The movement sequences are greatly reduced and the ability to move can also be completely lost.
Diagnosis & course
Since Behr syndrome is a very rare hereditary disease that is often associated with ataxia, therapy options that specifically deal with the syndrome are hardly available. Therefore, when symptoms such as ataxia and nystagma occur, which mainly affect diseases of the cerebellum, therapeutic measures are undertaken that are specifically intended to alleviate these forms. This can take place, for example, through experiments with aminopyridines, which, however, have not yet been officially approved as a possible therapy.
Inhibitory neurons in the cerebellum, also called Purkinje cells, release the neurotransmitter GABA. The inhibition by the cerebellum no longer works adequately or is completely disturbed, which leads to ataxias. This also applies to eye movements or eye tremors, since the cerebellum also inhibits the vestibular nuclei. Since there is usually a connection with a functional disorder of the Purkinje cells, which are particularly active and have a potassium channel, aminopyridines, as colorless and yellow solids, block the potassium channel and can thus influence the cerebellar disorders.
When should you go to the doctor?
Since the Behr syndrome primarily restricts the eyesight of the person affected, a doctor should always be consulted in the event of discomfort in the eyes or in the event of sudden visual problems. In this way, further consequential damage and possible complications can be avoided and limited. Especially in children, regular eye examinations must be carried out in order to avoid consequential damage. It is not uncommon for those affected to see a yellow spot in the field of vision. If this complaint occurs, a doctor must be consulted.
An ophthalmologist must also be consulted if the light is flaming or of a different color. It is not uncommon for the symptoms to come on suddenly and are not associated with other circumstances or symptoms. Treatment is particularly necessary if you lose your orientation or coordination.
Since the treatment of Behr syndrome is usually not possible, patients are dependent on various therapies that make movement and everyday life easier. The first visit to the doctor should, however, take place at an ophthalmologist. If the Behr syndrome is diagnosed, exercises can be carried out directly, which facilitate the day-to-day life of the person concerned and can have a positive effect.
Treatment & Therapy
The most common therapy, however, focuses on the causative disorders and tries to make progress through exercise therapy. The use of walking aids or wheelchairs and physiotherapy are some measures that can improve movements, as well as occupational therapy to support independence and to be able to perform certain activities better.
Coordination and sensitivity disorders are also treated, with the latter symptoms also leading to a restricted perception of one’s own body and its body joints or the position of the extremities. Targeted training of the receptors is the repetition of different stimuli, the training of sensitivity, for example through the stimulus of warmth and cold.
Relaxation and stretching exercises as well as massages help against spasticity. Also because the language center is disrupted, helps speech therapy while the sip – to reduce and language disorders and compensate for the changes in the vocal tract.
Outlook & forecast
Since Behr syndrome is a hereditary disease, it cannot be causal but only symptomatic. There is also no self-healing, so that those affected are very limited in their lives if there is no medical treatment. The individual complaints can be partially limited.
With the help of exercise therapy, physiotherapy or occupational therapy, the affected person’s movement can be restored and encouraged. However, there is no complete healing. If the Behr syndrome is not treated, the patient can in the worst case completely lose his ability to move. There are also disorders of coordination and sensitivity. In many cases, the syndrome also leads to swallowing difficulties, which can also only be cured to a very limited extent.
The discomfort in the eyes caused by Behr syndrome can usually not be cured. For this reason, the patient’s field of vision is severely restricted and may also have a yellow spot. This makes coordination and concentration of the person affected considerably more difficult. The spasticity of this syndrome is treated with the help of various relaxation exercises. However, this does not lead to a completely positive course of the disease either.
Preventive measures are not possible with Behr syndrome. The Behr syndrome is similar to the Costeff syndrome, although the former does not show any metabolic abnormalities. Treatment usually has to be done through surgical interventions performed on the aductor longus muscle or the Achilles tendon. The aducto longus muscle is responsible for the adduction of the thigh.
Tests with imaging methods have shown that some affected patients with Behr syndrome have cerebellar atrophy and also symmetrical anomalies of the white brain matter. Genetic heterogeneity is therefore assumed.
Since the Behr syndrome cannot be completely cured, follow-up care for this disease is not possible and therefore not necessary. The affected person is dependent on lifelong therapy in order to alleviate and limit the symptoms of Behr syndrome. As a rule, participation in physical therapy or exercise therapy is necessary to ensure an increased quality of life.
The difficulty in swallowing can only be alleviated to a limited extent in Behr syndrome, so that the patient is dependent on permanent help from other people and usually cannot cope with everyday life on his own. In the case of Behr syndrome, psychological treatment is also recommended, whereby the parents and relatives of the patient can also participate in this in order to avoid or alleviate possible psychological complaints.
After surgery for Behr syndrome, normal steps should be taken to allow the patient’s body to recover from the procedure. As a rule, these interventions proceed without complications and make the patient’s life easier. The other symptoms can be alleviated and limited by stretching exercises and massages. However, there is no complete cure for Behr syndrome. In general, it cannot be predicted whether the patient’s life expectancy will be limited as a result of Behr syndrome.
You can do that yourself
There are no self-help measures that combat the underlying disease. However, there are options available to patients that alleviate the symptoms and the restrictions in everyday life. If the disease is accompanied by spastic paralysis, exercise therapy should be started. Wheelchairs and walking aids help to reduce the risk of injury and not to completely lose mobility.
Stretching exercises and medical massages help with excessive internal tension in the skeletal muscles. In the case of speech disorders, a speech therapist should be consulted.
Behr syndrome often occurs in childhood. Here it is important that educators or teachers are informed about the visual impairment and its causes, so that a learning disability or other cognitive deficits are not concluded. If children are unable to find their way around the room due to their poor eyesight, they usually cannot attend a conventional kindergarten or a normal school.
In order to enable the affected children to receive a school education that corresponds to their intellectual abilities, parents should try to find a place in a suitable facility at a very early stage or clarify with the school authorities and the health insurance company under which conditions private tuition at home is possible.