Hallervorden-Spatz Disease

Introduction:

Hallervorden-Spatz disease (HSD) is a rare genetic disorder. It is characterized by progressive neurological dysfunction and loss of memory (dementia). It is a movement disorder which runs in families. It is first described by Hallervorden and Spatz in 1922.

Causes:

HSD is chiefly genetic, linked to chromosome 20. It is due to the defect in the gene that makes a protein called pantothenate kinase 2 (PANK 2). Recently, this disease is termed as pantothenate kinase-associated neurodegeneration.

Symptoms:

Symptoms usually start appearing in late childhood.

  • Involuntary muscle contractions (dystonia)
  • Involuntary, jerky muscle movements (Choreoathetosis)
  • Muscle rigidity
  • Tremors
  • Uncoordinated muscle movements (ataxia)
  • Convulsions
  • Loss of memory
  • Disorientation
  • Confusion
  • Speech difficulty (dysarthria)

Diagnosis:

  • Clinical signs and symptoms
  • MRI of brain – may show iron deposits in Basal Ganglia
  • Genetic tests – for PANK2

Prognosis:

Prognosis is usually poor. Death usually occurs in 10 years after the onset of the disease.

Treatment:

Treatment of HSD is usually symptomatic and supportive.

Avail Telemedicine Services
  • Physiotherapy
  • Speech therapy
  • Occupational therapy

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