Abstract Niemann–Pick disease type C (NPC) is an atypical, ultra-rare, lysosomal storage disease [1]. In contrast to classic lysosomal storage diseases [2], the lysosomal storage of macromolecules is not caused…
Abstract Humans depend on dietary proteins as a source of amino acids; they are the metabolic basis of all functional and structural proteins in the body. Some amino acids –…
Abstract Myoclonus is a hyperkinetic movement disorder defined as a sudden, brief, involuntary jerk of a muscle or a muscle group. Myoclonus can be caused by muscle contraction (positive myoclonus)…
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,…
