Batten disease: symptoms, causes and treatment

The number of rare diseases recorded throughout the history of medicine varies from 5,000 to 7,000 different diseases or conditions, the vast majority of which have their origin in some kind of genetic alteration.

One of these rare genetic diseases is Batten disease. It is a medical condition that exclusively affects children and its symptoms can lead to total addiction and sometimes death.

What is Batten disease?

Batten disease is a genetic disease and potentially fatal that affects the nervous system of the child. This disease begins to appear between the ages of 5 and 10 and its first symptoms are recognizable as the child begins to suffer from seizures and vision problems.

They may also appear initially other much more subtle symptoms such as changes in the child’s personality and behavior, Learning difficulties and delays, awkward movements and falls while walking.

This condition was first described in 1903 by pediatrician Frederik Batten, who gave it its current name. outraged it is also known as juvenile ceroid neuronal lipofuscinosis.

Main features of this disease

As mentioned above, Batten disease is a genetic disease that belongs to the group of lysosomal storage disorders. It has very little impact but has very debilitating symptoms that can even lead to the child’s death.

Its genetic origin prevents cells in the human body from getting rid of substances and wastes circulating in them, Causing excessive agglomeration of proteins and lipids, i.e. fatty-type extracts.

This storage of fatty substances ends up causing considerable damage to cellular structures and functions, which gradually leads to a progressive progressive deterioration of this disease,

Likewise, the structure most affected by Batten disease is the nervous systemThe brain is the most damaged organ in the entire system.

    symptoms

    As mentioned above, Batten disease is mainly present on the nervous system, so all the symptoms belonging to this disease will be related to the neurological area.

    This symptomatology mainly affects three areas of great neurological weight: vision, cognition and motor skills, on which it exerts a progressive degradation effect.

    The symptoms of each of the affected areas will be described below:

    1. Progressive loss of vision

    Progressive visual impairment is one of the first symptoms to appear in Batten disease. This symptom, which usually appears in the first years of life, it evolves to cause total or partial blindness of the child when he is about 10 years old.

    In this category of symptoms are included a few others, also related to vision, which appear throughout the development of the disease. These symptoms include:

    • Retinitis pigmentosa.
    • Macular degeneration.
    • Optic atrophy.

    2. Seizures

    Other symptoms that appear during the early stages of the disease are repeated attacks. These crises are transient incidents characterized by the presence of crises caused by abnormal or disproportionate neuronal activity.

    Within these convulsive episodes, two different classes can be distinguished:

    focal seizures

    These seizures are caused by abnormal functioning of specific areas of the brain. These seizures are characterized by the fact that the person is subjected to a series of rapid movements. During these crises, the person you may experience loss of consciousness, And rhythmic and involuntary movements around the body.

    generalized seizures

    In this second type of epileptic seizure, abnormal neuronal activity affects virtually all areas of the brain. Within these types of episodes are the absence seizures, Or tonic and atonic seizures among many others.

      3. Cognitive impairments

      Both the agglomeration of lipid substances and the damage caused by epileptic seizures end up causing serious neurological disorders, which manifest themselves in a loss of abilities that the child had already learned.

      These cognitive deficits they can affect any area of ​​language, memory, thought or judgment. Likewise, this process of generation tends to be accompanied by changes in the behavior, personality and mood of the child and may even present with psychotic episodes.

      4. Psychomotor problems

      In Button’s disease too musculoskeletal and motor functions may be affected, Coming to hinder and condition the mobility of the child.

      Within these psychomotor disorders can appear:

      • Involuntary muscle contraction.
      • Sensation of burning, numbness, itching and tingling in the upper and lower limbs.
      • Hypotonia or hypertension.
      • Almost complete paralysis of the limbs.

      5. Limitations and dependency

      Finally, in the later stages of Batten disease children have often lost the ability to move and communicateThey are therefore in a situation of absolute dependence.

      cause

      As mentioned above, Batten disease has a genetic origin. More precisely, its origin is in chromosome pair 16 which has a series of mutations in the CLN3 gene. This gene is located in the nuclei of somatic cells.

      Although the exact functions of this gene are not known, its mutation causes an abnormal and excessive accumulation of matter and fatty substances in the tissues of the nervous system.

      these lipopigments they cause a number of significant damages to the affected cell areas, Triggering the distinctive gradual degradation of this condition.

      diagnostic

      In the event that family members are aware of the existence of a family history of Batten disease, perform a prenatal exam or assessment using the amniocentesis test or by chorionic villus sampling.

      However, if the assessment takes place after the child is born, it will be necessary to conduct a thorough assessment to ensure a correct diagnosis. Typical tests performed in this assessment are:

      • Genetic studies.
      • Biopsy of nerve tissue.
      • Physical examination.
      • Neurological examination.
      • Assessment of visual capacity.
      • Blood test.
      • Urine analysis.
      • Electroencephalography (EEG).

      treatment

      At this time, due to the peculiarities of Batten disease, no action or treatment protocol has been established that can stop the symptoms or bring them back.

      however, seizure symptoms can be controlled with the administration of an anticonvulsant drug. In addition, thanks to the benefits of physiotherapy and occupational therapy, children with Batten disease can keep their bodies functioning for as long as possible.

      Stimulation of patients, information and support to families through therapy groups can help or facilitate the management of this disease.

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