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.
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 usually start appearing in late childhood.
- Involuntary muscle contractions (dystonia)
- Involuntary, jerky muscle movements (Choreoathetosis)
- Muscle rigidity
- Uncoordinated muscle movements (ataxia)
- Loss of memory
- Speech difficulty (dysarthria)
- Clinical signs and symptoms
- MRI of brain – may show iron deposits in Basal Ganglia
- Genetic tests – for PANK2
Prognosis is usually poor. Death usually occurs in 10 years after the onset of the disease.
Treatment of HSD is usually symptomatic and supportive.
- Speech therapy
- Occupational therapy
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