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.
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