Epilepsy & Seizures
Juvenile absence epilepsy
Nov. 20, 2023
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Dystonia (generalized, DYT-TOR1A) with tremor, treated with pallidotomy
This woman with generalized dystonia has a coarse postural tremor of the right hand. Dystonia affecting the trunk is evident when she walks. Her daughter with more severe, generalized dystonia has severe truncal and limb dystonia. Lower limb dystonia makes walking almost impossible. She is markedly improved after bilateral pallidotomy. Some leg dystonia is still present while walking. Both mother and daughter had a GAG deletion in the gene coding for torsinA on chromosome 9, confirming the diagnosis of DYT-TOR1A dystonia. (Contributed by Dr. Joseph Jankovic.)