Microcephaly vera, progressive motor neuron disease, and nigral degeneration.
A patient is described who was microcephalic at birth. After attaining early motor milestones, she developed progressive lower motor neuron dysfunction of the limb and bulbar musculature, combined with dystonia and an action tremor. The pathology and possible pathogenesis are discussed.
D000293:Adolescent; D001480:Basal Ganglia Diseases / Q000473:pathology; D001921:Brain / Q000473:pathology; D004576:Electromyography; D005260:Female; D006801:Humans; D008831:Microcephaly / Q000473:pathology*; D009046:Motor Neurons / Q000648:ultrastructure*; D009410:Nerve Degeneration; D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000473:pathology*; D009474:Neurons / Q000648:ultrastructure; D013116:Spinal Cord / Q000473:pathology; D013378:Substantia Nigra / Q000473:pathology*