Abstract Parkinsonism is a syndrome diagnosed by the presence of cardinal motor features, generally defined as bradykinesia in combination with rigidity, resting tremor, flexed (stooped) posture, and freezing and/or impaired…
Abstract Ataxia means “lack of order,” and is defined as a cerebellar disorder characterized by disturbances of coordinated muscle activity. Clinically, cerebellar dysfunction manifests as nystagmus, dysarthria, intention tremor, dysdiadochokinesia,…
Abstract Spasticity is a motor abnormality characterized by increased muscular tone. It results from a lesion of the corticospinal (or pyramidal) tract, which includes motor neurons in the cerebral cortex…
Abstract Historically, childhood-onset, isolated, generalized, and inherited forms of dystonia (such as DYT1 dystonia) and adult-onset, isolated, focal, mainly idiopathic dystonias have been emphasized. There is, however, growing awareness of…
Abstract Strategies in the biochemical testing for movement disorders depend on the available laboratory test panels and clinical description of the patient. Clinical signs and symptoms may already provide a…
Abstract Diagnosing inborn errors of metabolism (IEMs) and particularly those complicated by movement disorders means working in a fascinating and overlapping area between neurology, child neurology, metabolic disease, and genetics….
Abstract Movement disorders can present a diagnostic challenge, particularly those with onset at an early age as one component of a complex neurodevelopmental disorder. With advances in next-generation sequencing technologies,…
Abstract The study of abnormal movements has been an important topic in neurology since over a century ago. In fact, movement disorders are a rapidly growing subspecialty that receives contributions…
Abstract Inherited metabolic movement disorders are an important and evolving group of disorders that bridge two subspecialty areas: childhood-onset movement disorders and inborn errors of metabolism. Individually, many of these…
Abstract This chapter considers the notion of personhood and shows how it offers a robust conceptual underpinning to person-centred care. We use a fictitious case vignette to clarify the nature…
