Behr Syndrome: Causes, Symptoms & Treatment

One of the rarer hereditary diseases is the so-called Behr syndrome. The disease is degenerative, exhibits disturbances of the optic nerve, and is associated with neurological damage.

What is Behr syndrome?

Behr syndrome was first described by ophthalmologist Carl Julius Peter Behr, from whom the name is then derived. In 1909, he conducted a study and was able to describe the disease in more detail based on forty cases. Behr syndrome is an optic atrophy with neurological effects. It can affect both males and females, the symptoms can be observed early and are expressed in the first mild to more severe visual disturbances. This visual impairment is also often accompanied by sensory nystagmus. This is the rhythmic uncontrolled movements of the eyes. There is eye tremor, which occurs pathologically or physiologically. Behr syndrome is divided into two different diseases:

  • If Behr syndrome II is meant, it is a rare and juvenile macular degeneration, which is inherited autosomal recessive, with particular diseases of the retina.

Causes

Behr syndrome is always an auto-recessive inherited disorder. Both autosomal dominant and x-linked inheritance have been observed in this case, and a gene mutation underlying all of them has not yet been demonstrated. The disease is probably genetically heterogeneous. Within a family by hereditary transmission, the neurological disorders occur in different degrees. The most common defects are expressed as myoclonus epilepsy, progressive spastic paraplegia associated with damage to the pyramidal tracts, speech disorders, extrapyramidal signs, ataxia, underdevelopment, and urinary incontinence. Affected individuals also present with sensory disturbances, as well as muscle spasms that occur mainly in the legs and lower extremities. Myoclonus epilepsy also involves rapid involuntary muscle twitching. The epileptic seizure is generalized, clonic, and multifocal. The course of the disease is accompanied by severe impairment. The pyramidal tracts are located in the cerebral cortex, forming the transition from the cerebrum to the spinal cord, where they transmit impulses. If these are disturbed, pyramidal signs appear and paralysis occurs. Spastic paraplegia occurs hereditarily, that is, as an inherited condition. The symptoms are spastic paralysis of the legs. The sufferer is dependent on a wheelchair as the effects progress.

Symptoms, complaints, and signs

The first symptoms appear in childhood, usually from the second and third years of life. Tissue atrophy on the optic nerve leads to loss of overall visual acuity and visual disturbances associated with the disease, which increase greatly over time. Vision of the visual field also becomes severely constricted, scotoma occurs, and the yellow spot located in the central retinal area changes. Flickering or spinning light is perceived, which expands but does not affect the entire visual field. The flash-like occurrence of such symptoms usually happens sporadically. Orientation in space is nevertheless possible, although severely limited. Most children with Behr syndrome can hardly walk and at most move conditionally within the house. Movement patterns are greatly reduced and the ability to move may also be completely lost.

Diagnosis and course

Because Behr syndrome is a very rare hereditary disease that is often also associated with ataxia, therapeutic options that specifically address the syndrome are still scarce. Therefore, when symptoms such as ataxia and nystagmus, which mainly affect cerebellar disorders, occur, therapeutic measures are undertaken to specifically alleviate these forms. This can take place, for example, through trials of aminopyridines, although these have not yet been officially approved as a potential therapy. Inhibitory neurons in the cerebellum, also called Purkinje cells, release the neurotransmitter GABA. Inhibition by the cerebellum no longer functions adequately or is completely disrupted, resulting in ataxias.This also affects eye movements or eye tremor, since the cerebellum also inhibits the vestibular nuclei. Since there is usually a connection with a dysfunction 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 cerebellar dysfunction.

When should you see a doctor?

Since Behr syndrome primarily limits the visual acuity of the affected person, a doctor should always be consulted if there is any discomfort in the eyes or if there are sudden visual complaints. This can prevent and limit further consequential damage and possible complications. Particularly in children, regular eye examinations must be performed to prevent 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 complaints to occur suddenly and not be associated with other circumstances or symptoms. Especially in case of a loss of orientation or coordination, treatment is necessary. Since treatment of Behr syndrome is usually not possible, patients are dependent on various therapies that facilitate movement and everyday life. However, the first visit to the doctor should be with an ophthalmologist. If Behr syndrome is diagnosed, exercises can be performed directly that can facilitate and positively influence the further daily life of the affected person.

Treatment and therapy

However, the most common therapy is directed at the causative disorders and tries to achieve progress through movement 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 better perform certain activities. Coordination and sensitivity disorders are also treated, whereby the latter symptoms also lead to a limited perception of one’s own body and its body joints or the position of the extremities. A specific training of the receptors is the repetition of different stimuli, the training of sensitivity, for example, by the stimulus of heat and cold. Relaxation and stretching exercises as well as massages help against spasticity. Since the speech center is also disturbed, speech therapy helps to reduce swallowing and speech disorders, thus compensating for the changes in the speech apparatus.

Outlook and prognosis

Because Behr syndrome is a hereditary disease, it cannot be treated causally, only symptomatically. There is also no self-healing, so those affected are very limited in their lives if no medical treatment takes place. The individual complaints can be partially limited. With the help of movement therapy, physiotherapy or occupational therapy, the movement of the affected person can be restored and promoted. However, a complete cure does not occur. If no treatment of Behr syndrome takes place, the patient may, in the worst case, completely lose his or her ability to move. Disturbances in coordination and sensitivity also occur. In many cases, the syndrome also leads to swallowing difficulties, which can also only be cured to a very limited extent. The complaints of the eyes caused by the Behr syndrome can usually not be cured. For this reason, the patient’s field of vision is severely limited and may also have a yellow spot. This makes the affected person’s coordination and concentration much more difficult. The spasticity of this syndrome is treated with the help of various relaxation exercises. However, even this does not result in a completely positive course of the disease.

Prevention

Preventive measures are not possible in Behr syndrome. Behr syndrome bears similarity to Costeff syndrome, although metabolic abnormalities do not occur in the former. Treatment must usually be via surgical procedures, which are performed on the adductor longus muscle or the Achilles tendon. The adductor longus muscle is responsible for adduction of the thigh.In experiments with imaging techniques, it could be shown that some affected patients of Behr syndrome have cerebellar atrophy and also symmetrical abnormalities of the white matter of the brain. Therefore, genetic heterogeneity is hypothesized.

Follow-up

Because Behr syndrome cannot be completely cured, follow-up care is not possible and thus not necessary for this disease. In this case, the affected person is dependent on lifelong therapy to alleviate and limit the symptoms of Behr syndrome. As a rule, participation in physiotherapy or exercise therapy is necessary to ensure an increased quality of life. In Behr syndrome, swallowing difficulties can also only be alleviated to a limited extent, so that the patient is also dependent on permanent assistance from other people and is usually unable to cope with everyday life on his or her own. In the case of Behr syndrome, psychological treatment is also recommended, and the patient’s parents and relatives can also participate in this in order to prevent or alleviate possible psychological complaints. After a surgical intervention for Behr syndrome, the usual measures should be taken to allow the patient’s body to recover from the intervention. Usually, these procedures pass without complications and make the patient’s life easier. Stretching exercises and massages can alleviate and limit further discomfort. However, a complete cure of Behr syndrome does not occur. It cannot be generally predicted whether Behr syndrome will result in a limited life expectancy for the patient.

Here’s what you can do yourself

There are no self-help measures that address the underlying disease. However, patients do have options available to help alleviate symptoms and limitations in everyday life. If the condition is accompanied by spastic paralysis, exercise therapy should be started. Wheelchairs and walking aids help to reduce the risk of injury and to avoid losing mobility altogether. Stretching exercises and medical massages help with excessive inherent tension in the skeletal muscles. A speech therapist should be consulted for speech disorders. Behr syndrome often occurs in childhood. In this case, it is important that educators or teachers are informed about the visual disorder and its causes so that learning disabilities or other cognitive deficits are not inferred. If children’s orientation in space is also disturbed due to the visual impairment, they usually cannot attend conventional kindergarten or normal school. In order to nevertheless enable the affected children to receive a school education that corresponds to their intellectual abilities, parents should seek a place in a suitable institution at a very early stage or clarify with the school authorities and the health insurance fund under what conditions private tuition at home is possible.