Hallervorden-Spatz disease, an encephalopathy with iron deposition

Hallervorden-Spatz disease is categorised as an extremely rare neurodegenerative disease that is associated with iron deposition in the brain in parts that are responsible for muscle tone, postural regulation on a daily basis. The iron that is deposited in brain tissue most likely exerts an effect on the formation of so-called reactive oxygen species, which in turn induce a phenomenon called oxidative stress, which is responsible for the death of nerve cells. The consequence of oxidative stress and the gradual death of cells is a progressive degeneration of the central nervous system. The disease is extremely rare, occurring once in every six million healthy births, and is therefore classified as a so-called rare disease.

Disease types

Depending on when the disease starts to develop, there are so-called three types of the disease:

early childhood, which develops up to around the age of 10. The full symptoms of the disease occur before this age. In the early childhood form, 2 forms can be distinguished - the so-called early onset and rapid course, when the first symptoms appear at the turn of the 1st and 2nd year of life, and the so-called slow course, when the disease produces its first symptoms around the age of 4-5 years.
late childhood onset, which develops between the ages of 5 and 10, and juvenile onset, which develops between the ages of 10 and 20, the disease usually begins at the turn of the first and second decade of life. Among the first worrying symptoms are walking disorders, contractures of the ankle joint, and articulation disorders.
adult-onset - occurs after the patient is 20 years of age, is rare, among the symptoms characteristic of this stage appear athetosis, chorea, dystonia.
prolonged clinical course - the first symptoms appear in the first or second decade of life, but the clinical course is so slow and long that the survival period is even several decades.

What are the causes of the disease?

Hallervorden-Spatz disease is classified as a genetic disease caused by gene alterations. In the case of iron deposition encephalopathy, the cause of the disease is considered to be a mutation in the PANK cells 2 gene. The mutation is inherited in an autosomal recessive manner, which means that in order to get the disease, one must 'receive' from the parents 2 defective copies of the same gene. The disease appears in more than 50% of cases before the age of 10 and in 80% after the age of 15. The clinical picture of the disease varies, depending on the age at which the patient develops the disease, the clinical manifestations.

Genetic diseases, photo: panthermedia

What are the symptoms of the disease?

The main symptoms of the disease include:

disorders affecting the ability to walk manifested by the so-called "stiff gait",
the appearance of involuntary movements that cause the body to twist and bend (dystonia),
progressive weakness of certain parts of the limbs,
the occurrence of a fixed flexion of the sole of the foot and adduction of the forefoot (so-called hollow foot or clubfoot),
a change in facial expression due to contraction of the broad muscles of the neck,
difficulty swallowing (dysphagia),
speech disorders (dysarthria) - voice becomes high-pitched, squeaky,
retinal pigmentary degeneration resulting in impaired vision,
progressive dementia,
depression,
mental disorders.

At the moment, no biochemical pathological mechanisms have been found, making the initial diagnosis based on neuroimaging findings obtained by MRI.

The disease symptoms in the clinical picture progress slowly, indeed some researchers use the statement that the disease progresses insidiously. The first symptoms are slowly progressive so-called extrapyramidal symptoms, such as dystonia, gait disturbances.

Treatment options and diagnosis of the disease

Diagnosis to diagnose the disease is relatively arduous and requires a number of tests. An MRI scan is necessary to verify that iron deposits are present in the brain. The next step is to perform genetic testing to assess whether there is a mutation in the PANK cells 2 gene - which is responsible for the onset of the disease. Unfortunately, at the moment, treatment of genetic diseases is not effective - there are no therapies that can repair the damaged genes and thus make a complete recovery possible. Treatment is therefore based on the implementation of therapies that will reduce the symptoms of the disease. Physiotherapy, gymnastics, muscle relaxation massages or the use of deep brain stimulation, known as DBS, are important in the treatment of Hallervorden-Spatz disease. This is a type of surgical treatment that involves implanting a device that sends pulses of a specific frequency to a part of the brain. DBS is approved by the US Food and Drug Administration as a treatment for spontaneous tremor or Parkinson's disease, among others. The device used for brain stimulation consists of 3 components, i.e. an implanted generator of so-called rhythmic electrical activity, a signal supply and a generator. The generator is remotely controlled by a neurologist. Unfortunately, no causal treatment for the disease has been found to date, and the only form of treatment is so-called symptomatic therapy and rehabilitation.

Prognosis for patients with Hallervorden-Spatz disease

It is estimated that it takes an average of three to 11 years from the time the disease is diagnosed until the patient dies. Respiratory failure is considered the main cause of death.

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Hallervorden-Spatz disease and its consequences

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