Loghman hospital – farhad mansouri

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

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

 Corea, dystonia BASAL GANGLIA

DYSTONIA

 what you see?   SEVERE DYSTONIC POSTURE

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

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

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

 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.

Sympatomimetics Carbamazepine Phenytoin Antipsycotics ets

Normal laboratory test No hepatic involvment

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

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

limb onset progression to generalized dystonia

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

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

 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

 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

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