Gallervarden-Spatz disease: symptoms, diagnosis and treatment

The disease of Gallervorden-Spartz is a neurodegenerative disease of the central nervous system, at the basis which is the violation of the exchange of iron and its deposition in the subcortical structures of the brain.

The international name of the disease is a neurodegenerative disease with the deposition of iron in the brain.

At the heart of the disease is the genetic mutation of the gene, which is responsible for the exchange of iron in the body. With a broken metabolism, iron begins to accumulate in certain structures of the brain: these are basal ganglia (pallid sphere, black substance and red nuclei) that enter the extrapyramidal system. The mutation in the gene is transmitted by an autosomal recessive type, so both parents must be carriers of the anomaly so that the disease manifests itself in the offspring. The disease of Gallervorden-Spartz is very rare in the population, which is explained by the inheritance features.

Extrapyramidal system is responsible for maintaining the human posture, muscle tone, complex targeted movements (writing, driving, etc.). If any structures within this system are affected, extrapyramidal disorders appear.

Symptoms

Grimacing is one of the symptoms of this disease.

In the clinical course of the disease, two forms are distinguished: classical and atypical.

1. Classical form.

The debut of the disease falls on the age of 3-6 years. The first symptom to which parents and others pay attention is a violation of walking. Disturbance of walking occurs against the background of changes in muscle tone, the appearance of stiffness (stiffness) of the muscles. In the future, sweeping, disorderly, jerky movements join, which can be different in amplitude and intensity - the choreic movements. Choreic movements can affect any part of the body. They are manifested by grimacing, chaotic popping out of the tongue, licking lips, waving arms or legs, dancing gait, etc. Man can not control movement. Another type of movement disorder is athetoid movement, which affects primarily the hands and feet. The fingers and toes perform slow, stereotyped "worm-like" movements that are beyond the control of the patient.

In some patients, movements slow down, there is trembling in the hands, feet, and tongue.

The classical form is characterized by the appearance of an oromandibular dystonia, which leads to speech disturbance, swallowing and constant biting of the tongue. Oromandibular dystonia is clinically manifested by violent excess movements of the masticatory muscles, muscles of the mouth. The person constantly makes chewing movements or opening of a mouth, maybe, on the contrary - tightening of jaws and a dense compression of lips.

Disease in the literature. Here one can not help but recall the charming folk, the "munch" from the cycle of children's novels A. Volkova about the girl Ellie and her dog Totoshka.

Almost always, retinal damage occurs, which is manifested by loss of visual fields, the appearance of blindness at night.

Memory impairment, attention may be of varying degrees of severity. The classical form of the disease proceeds wavy: the periods of progression are followed by periods of remission, but the general deterioration in the state comes quickly.

1. Atypical form.

The debut of the disease occurs at a later age (up to 30 years). For the atypical form, a slow progression of the condition is characteristic. The first symptoms include a speech violation by the type of echolalia - the repetition of other people's words, which a person does not control. There is a violation of pronunciation of sounds and words - dysarthria. The sense of balance is lost in the standing position. At later stages of the illness, mental disorders are added in the form of aggression, depression. Virtually all patients have decreased intelligence.

Diagnostics

The clinical picture of Gallervorden-Spatz disease is very diverse in its manifestations, so the diagnosis of the disease is some difficulties.

Diagnostic measures include the following items:

1. Neurologic examination, in which a neurologist identifies the symptoms characteristic of extrapyramidal disorders.
2. MRI diagnostics reveals specific changes in subcortical structures that call the eye of the tiger - iron accumulation in the ganglia, and allows the elimination of another organic pathology.
3. Inspection of the ophthalmologist for the detection of pigmentary degeneration of the retina.
4. Consultation of a geneticist and DNA diagnostics to identify mutations in the gene.

Treatment

Treatment is exclusively symptomatic and is prescribed to the patient, taking into account the individual characteristics of the course of his illness.

Specific treatment does not exist. All treatment measures are aimed at alleviating the symptoms of the disease.

1. Anticonvulsants (Depakin, Konvuleks, etc.) are appointed to remove hyperkinesis - excess movements.
2. Miorelaxants (Baclosan, Midokalm, etc.) are used to reduce stiffness of the muscles.
3. Neuroleptics (clonazepam) and antidepressants (Citalopram) - with mental disorders.
4. Correction of cognitive disorders (Gliatilin, Cogitum, etc.).
5. Vasoactive drugs (Vinpocetin and others) improve metabolic processes in the brain.
6. Nootropics (Pantogam, Pyracetam, etc.) stimulate the work of nerve cells.

Symptomatic therapy allows to maintain the relative quality of human life for several years. Full disability occurs after 10 years or more.