Diseases

Behr Syndrome – Causes, Symptoms & Treatment

Behr syndrome

The so-called Behr syndrome also belongs to the rarer hereditary diseases . The disease is degenerative, with disorders of the optic nerve and 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 on the basis of forty cases.

Behr syndrome is an optic atrophy with neurological effects. It can affect both men and women, the symptoms can be observed early and are expressed in the first light to severe visual disturbances . This visual impairment is often accompanied by sensory nystagmus . These are the rhythmically uncontrolled movements of the eyes. Eye tremor occurs , which occurs pathologically or physiologically.

Behr syndrome is divided into two different diseases:

  • Behr syndrome I is a combination of early onset and cerebellar ataxia 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 being present.

causes

Behr syndrome is always an auto-recessive inherited disease. Both autosomal dominant and x-chromosal hereditary processes could be observed here, a gene mutation underlying all of them has not yet been proven. The disease is likely genetically heterogeneous.

Within a family through inheritance , the neurological disorders occur with different degrees of severity. The most common defects are myoclonus epilepsy , progressive spastic paraplegia associated with damage to the pyramidal tract, speech disorders , extrapyramidal signs, ataxia , intellectual disability, and urinary incontinence . Sufferers also present with sensory disturbances, as well as muscle spasms , which occur primarily in the legs and lower extremities.

Rapid, involuntary muscle twitching also occurs in myoclonus epilepsy. The epileptic seizure is generalized, clonic, and multifocal. The course of the disease is accompanied by serious impairments.

The pyramidal tracts are located 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 signs of paralysis occur. Spastic paraplegia occurs hereditarily, i.e. as an inherited condition. The symptoms are a spastic paralysis of the legs. The patient is dependent on a wheelchair as the effects progress.

Symptoms, Ailments & Signs

The first symptoms appear in childhood, usually from the second or third year of life. Tissue loss on the optic nerve leads to a reduction in overall visual acuity and the visual disturbances associated with the disease, which increase sharply over time. The field of vision is also severely restricted, a scotoma occurs and the yellow spot , which is located in the central retinal area, changes.

Flickering or rotating light is perceived, which expands but does not affect the entire field of vision. The sudden occurrence of such symptoms usually happens sporadically. Orientation in space is still possible, albeit severely restricted. Most children with Behr syndrome can hardly walk and can only move around inside the house to a limited extent. The movement sequences are greatly reduced and the ability to move can also be lost completely.

Diagnosis & History

Since Behr’s syndrome is a very rare hereditary disease that is often associated with ataxia, there are hardly any treatment options that specifically deal with the syndrome. Therefore, when symptoms such as ataxia and nystagma appear, which mainly affect diseases of the cerebellum, therapeutic measures are taken that are specifically intended to alleviate these forms. This can take place, for example, through tests with aminopyridines, which 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 functions adequately or is completely disrupted, resulting in ataxia. 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 Behr’s syndrome primarily affects the eyesight of those affected, a doctor should always be consulted if there are problems with the eyes or sudden visual problems. In this way, further consequential damage and possible complications can be avoided and limited. In children in particular, 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 their 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 appear suddenly and are not associated with other circumstances or symptoms. Treatment is necessary, especially if you lose orientation or coordination.

Since Behr’s syndrome cannot usually be treated, patients are dependent on various therapies that make movement and everyday life easier. However, the first visit to the doctor should be with an ophthalmologist. If Behr’s syndrome is diagnosed, exercises can be carried out directly that can make the affected person’s everyday life easier and have a positive effect.

Treatment & Therapy

However, the most common therapy is aimed at the causative disorders and attempts to achieve progress through exercise therapy . Using walking aids or wheelchairs and physiotherapy are some measures that can improve movements, as can occupational therapy to support independence and to be able to perform certain activities better.

Coordination and sensitivity disorders are also treated, whereby the latter symptoms also lead to a restricted perception of one’s own body and its body joints or the position of the extremities. A targeted training of the receptors is the repetition of different stimuli, the training of sensitivity, for example through 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 the swallowing and speech disorders and thus compensate for the changes in the speech apparatus.

Outlook & Forecast

Since Behr’s syndrome is a hereditary disease, it cannot be causal, only symptomatic. There is also no self-healing, so that those affected are severely restricted 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 affected person’s movement can be restored and promoted. However, complete healing does not occur. If Behr’s syndrome is not treated, in the worst case the patient can lose his mobility completely. Disorders of coordination and sensitivity also occur. In many cases, the syndrome also leads to swallowing difficulties, which can only be cured to a very limited extent.

The eye problems caused by Behr’s syndrome cannot usually be cured. For this reason, the patient’s field of vision is severely limited and may also have a yellow spot. This makes the coordination and concentration of those 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.

prevention

Preventive measures are not possible with Behr syndrome. Behr’s syndrome is similar to Costeff’s syndrome, although in the former there are no metabolic abnormalities. Treatment most often requires surgical interventions performed on the aductor longus muscle or the Achilles tendon. The aducto longus muscle is responsible for adducting the thigh.

Experiments with imaging methods have shown that some affected patients with Behr syndrome have cerebellar atrophy and also symmetrical anomalies in the white matter of the brain. Therefore, genetic heterogeneity is assumed.

aftercare

Since Behr’s 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. Participation in physiotherapy or movement therapy is usually necessary to ensure a better quality of life.

The swallowing difficulties can only be alleviated to a limited extent in Behr syndrome, so that the patient is dependent on permanent help from other people and is usually unable to cope with everyday life on his own. Psychological treatment is also recommended for Behr syndrome, in which the patient’s parents and relatives can also take part in this in order to avoid or alleviate possible psychological problems.

After surgery for Behr Syndrome, the usual steps should be taken to allow the patient’s body to recover from the surgery. As a rule, these interventions proceed without complications and make life easier for the patient. Stretching exercises and massages can alleviate and limit the other symptoms. However, complete healing of Behr’s syndrome does not occur. It cannot generally 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, patients have options available to alleviate the symptoms and limitations in everyday life. If the disease is accompanied by spastic paralysis, movement therapy should be started. Wheelchairs and walking aids help to reduce the risk of injury and not to lose mobility altogether.

Stretching exercises and medical massages help with excess 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 inferred. If children also have problems with spatial orientation due to their visual impairment, they usually cannot attend a conventional kindergarten or normal school.

In order to enable the children affected to receive an education that corresponds to their intellectual abilities, parents should try to find a place in a suitable institution at a very early stage or clarify with the school authorities and the health insurance company the conditions under which private lessons at home are possible.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.