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Understanding Dystonia: Symptoms, Causes, and Localization Insights

This presentation delves into dystonia, a disorder characterized by sustained muscle contractions leading to abnormal postures and movements. We explore the localization of dystonic symptoms, the involvement of gray and white matter, and differential diagnoses, including primary and secondary forms. Key pathways, such as the basal ganglia, and associated conditions like Wilson's disease and Hallervorden-Spatz syndrome are examined. The importance of early diagnosis and treatment options, including pharmacologic interventions, are discussed to improve patient outcomes.

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Understanding Dystonia: Symptoms, Causes, and Localization Insights

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  1. Loghman hospital – farhadmansouri Presentation

  2. IS THE GRAY MATTER INVOLVED? level of conciousness content of conciousness LOCALIZATION OF DISORDER

  3. IS THE WHITE MATTER INVOLVED? NO increase DTR No plantar reflex Up Sensory or motor? LOCALIZATION OF DISORDER

  4. Corea, dystonia BASAL GANGLIA LOCALIZATION OF DISORDER

  5. DYSTONIA What is the most important symptom?

  6. what you see? SEVERE DYSTONIC POSTURE REVIEW THE PICTURE

  7. Dystonia is a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures WHAT IS DYSTONIA?

  8. One question! Primary or secondary dystonia? In primary dystonia, cognition and intellectual abilities remain intact despite the presence of significant movement abnormalities notice! consanguity Approach to dystonia

  9. in early onset primary dystonia, spread from one leg to other body areas, including the other leg, torso, arms, and upper body Early or late onset?

  10. perinatal asphyxia , kernicterus, generalized primary dystonia, drugs, Wilson disease (hepatolenticular degeneration), Haller-vorden-Spatz disease, and numerous other genetic mutations. extrapyramidal cerebral palsy who have had basal ganglia injury from asphyxia metabolic disorders such as glutaricaciduria. What the cause of dystonia?

  11. Sympatomimetics Carbamazepine Phenytoin Antipsycotics ets Drugs

  12. Normal laboratory test No hepatic involvment Wilson disease

  13. Other names: torsion dystonia dystoniamusculorumdeformans (DMD) Generalized primary dystonia

  14. mutation in the DYT1 gene coding ATP binding protein Torsin A Generalized primary dystonia

  15. limb onset progression to generalized dystonia

  16. Dopamin responsive dystonia Other names: Hereditary progressive dystonia with marked diurnal variation Hallmark: diurnal variation, trial of Levodopa Autosomalressesive Segawa disease DRD

  17. Neuropathology excessive accumulation of iron-containing pigments in the globuspallidus and substantianigra Hallervorden-Spatz

  18. AUTOSOMAL RESSESIVE pantothenatekinase–associated neurodegeneration. progressive dystonia, rigidity, and choreoathetosis. Spasticity, extensor plantar responses, dysarthria, and intellectual deterioration become evident during adolescence, and death usually occurs by early adulthood HALLERVORDEN SPATZ

  19. MRI shows lesions of the globuspallidus, including low signal intensity in T2 weighted images (corresponds to iron pigments) and an anteromedial area of high signal intensity (tissue necrosis and edema), or “ eye-of-the-tiger” sign Hallervorden-Spatz

  20. its hereditary AND Primary disorder Dystonia is prominant Major DDx: DMD or Hallervordenspatz conclusion

  21. Thank you

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