Hallervorden-Spatz disease is a rare degenerative disease of the nervous system that is genetically determined. It is most often diagnosed in children between 4 and 12 years of age, in whom it can be seen, inter alia, progressive limb paresis and gait disturbance. What are the causes and other symptoms of Hallervorden-Spatz disease? Is it possible to cure her?

Hallervorden-Spatz diseaseotherwiseiron storage encephalopathyin the brain, or pantothenate kinase related neurodegeneration, is raregenetic diseasethat usually develops in children. Its essence is the deposition of large amounts of iron in the substantia nigra and pale globule - parts of the brain that control human automated movements and muscle tone, and regulate body posture. How is iron neurotoxic to the brain? Probably by initiating the process of formation of reactive oxygen species. Their excess can cause oxidative stress, which leads to cell death and gradual degeneration of the central nervous system.

There are four types of Hallervorden-Spatz diseases: early childhood (develops up to 10 years of age), late childhood (diagnosed from 5 to 10 years of age), juvenile type (diagnosed from 10 to 20 years) and the type of adults with predominant Parkinsonian symptoms: Hallervorden-Spatz disease occurs once in six million births, and therefore belongs to the grouprare diseases .

Hallervorden-Spatz disease - causes

The disease is caused by a hereditary genetic mutation in the PANK2 gene. The disease is inherited in an autosomal recessive manner, which means that two defective copies of the same gene (one mutant copy from each parent) must be inherited for symptoms of the disease to develop.

Hallervorden-Spatz disease - symptoms

Symptoms of Hallervorden-Spatz disease are:

  • dystonia - the occurrence of involuntary movements, causing twisting and flexing of various parts of the body, which often causes the patient to assume an unnatural posture,
  • gait disturbance (stiffness),
  • weakening of the distal limbs (hands with wrists and feet),
  • hollow foot or clubfoot (this is a defect that consists infixed plantar flexion and addition of the forefoot),
  • tiptoeing,
  • characteristic facial expression - "frozen" in pain, with a sardonic smile and a contraction of the broad muscles of the neck.

In addition, there are dysphagia, i.e. difficulty swallowing, and dysarthria, i.e. speech disorders. Affected children speak through clenched teeth, their voice becomes squeaky, high-pitched, at times slightly nasal, and finally they lose their ability to speak, while still understanding it. There are also visual disturbances caused by retinitis pigmentosa with atrophy of the optic nerves.

Dementia is characteristic in the advanced stage of the disease. However, only a certain group of patients are intellectually lagging behind. Some patients retain the ability to analyze and understand what is often associated with mental disorders such as violent outbursts and depression.

These symptoms are irreversible and become stronger with the development of the disease.

Hallervorden-Spatz disease - diagnosis

In order to diagnose the disease, magnetic resonance imaging is performed, which reveals the presence of iron deposits in the pale ball and substantia nigra. Molecular tests are also carried out to confirm the presence of mutations in the PANK2 gene.

Hallervorden-Spatz disease - treatment

The causal treatment of genetic diseases is not possible, therefore the therapy is aimed at reducing the individual symptoms of the disease. For this purpose, physiotherapy, gymnastics, hypnotherapy and muscle relaxation massages are used. For several years, deep brain stimulation (DBS), which involves implanting a stimulator into the nucleus of the pale ball, has also been used. This method allows you to slightly alleviate the symptoms of the disease. There are also attempts to use an oral iron chelator, but with little success.

Hallervorden-Spatz disease - prognosis

It usually takes 3 to 11 years from the diagnosis of the disease to the death of the patient. The direct causes of death are most often pneumonia and respiratory failure, aggravated by damage to the respiratory center.

Category:

Genetic diseases