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Hallervorden spatz disease

Hallervorden Spatz disease or HSD is a rare neurological movement disorder that is passed down through families. It is characterized by progressive degeneration of the nervous system. According to the National Institute of Health, Hallervorden Spatz disease or its subtype affects less than 200,000 people in the US population.


Hallervorden Spatz disease was first described in 1922 as a form of brain degeneration characterized by iron deposition in the brain. The most recently used term for HSD is 'panthothenate kinase – associated neuro degeneration' as HSD specifically causes neuro degeneration and excessive iron accumulation. Onset of the disease is commonly in late childhood or early adolescence but there are cases with adult onset as well. The disease can be familial or sporadic. When familial it is inherited recessively.


Symptoms of Hallervorden spatz disease


  • Motor disorder of extra pyramidal type and gait difficulty.
  • Rigidity of extremities, slowness of movement.
  • Predominant tremor – continuous shaking especially in the hands.
  • Dystonia or involuntary muscle contractions – tight, weak and spastic muscles.
  • Movement defects with uncontrollable twisting and squirming.
  • Spasticity and dysarthria (speech disturbance caused by lack of control over muscles involved in speech) , brisk reflexes and extensor plantar responses.
  • Significant disturbance in speech at an early age.
  • Dementia is present in most individuals with HSD.
  • Visual impairment from optic atrophy or retinal degeneration.
  • Seizures

Hallervorden Spatz disease may possibly cause several other diseases including Cerebellar syndrome, Choreoathetosis, Chronic brain failure, Fits, Parkinsonism, Retinitis pigmentosa and Spastic ataxia.


Diagnosis of Hallervorden spatz disease

A neurological examination will reveal abnormal postures and movements, muscle rigidity, tremors and weakness. Genetic tests help to detect defective gene that causes the disease. However, this test is not widely available. MRI and similar other tests help to rule out the movement disorders and diseases.

Hallervorden Spatz disease gets worse and nerves are damaged over time. This leads to lack of movement and often death by early adulthood. Hence, treatment to control the symptoms becomes imperative. But there are no specific lines of treatment for HSD, consuming certain vitamins like panthothenate, Coenzyme Q10 and antioxidants can help the patient to some extent as they help ease the symptom severity. Sometimes medications used to treat symptoms for HSD can cause additional complications. These include blood clots, respiratory infections and skin breakdown.


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Collection of Pages - Last revised Date: December 6, 2024