1. Loghman hospital – farhad mansouri

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

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

4.  Corea, dystonia BASAL GANGLIA

5. DYSTONIA

6.  what you see?   SEVERE DYSTONIC POSTURE

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

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

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

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 glutaric aciduria.

11. Sympatomimetics Carbamazepine Phenytoin Antipsycotics ets

12. Normal laboratory test No hepatic involvment

13.  Other names: torsion dystonia dystonia musculorum deformans (DMD)

14. mutation in the DYT 1 gene coding ATP binding protein Torsin A

15. limb onset progression to generalized dystonia

17. Dopamin responsive dystonia Other names: Hereditary progressive dystonia with marked diurnal variation Hallmark: diurnal variation, trial of Levodopa Autosomal ressesive Segawa disease

18. Neuropathology excessive accumulation of iron-containing pigments in the globus pallidus and substantia nigra

19.  AUTOSOMAL RESSESIVE pantothenate kinase–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

20.  MRI shows lesions of the globus pallidus, 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

22. its hereditary AND Primary disorder Dystonia is prominant Major DDx: DMD or Hallervorden spatz