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.
- Physiotherapy
- Speech therapy
- Occupational therapy
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