BACKGROUND Lethal fetal akinesia deformation sequence (FADS) describes a clinically and genetically heterogeneous phenotype that includes fetal akinesia, intrauterine growth retardation, arthrogryposis and developmental anomalies. Affected babies die as a result of pulmonary hypoplasia. We aimed to identify the underlying genetic cause of this disorder in a family in which there were three affe...

BACKGROUND Lethal multiple pterygium syndrome (LMPS, OMIM 253290), is a fatal disorder associated with anomalies of the skin, muscles and skeleton. It is characterised by prenatal growth failure with pterygium present in multiple areas and akinesia, leading to muscle weakness and severe arthrogryposis. Foetal hydrops with cystic hygroma develops in affected foetuses with LMPS. This study aimed ...

Ablative and chronic stimulation procedures targeting the internal pallidum (GPi) and the subthalamic nucleus (STN) have led to major advancements in the treatment of Parkinson's disease and other movement disorders. Although these procedures have evolved to primarily target the posterior ventrolateral sensorimotor portion of GPi and to less selectively target STN, centrally, the ideal targets ...

BACKGROUND The Bradykinesia Akinesia Incoordination (BRAIN) test is a computer keyboard-tapping task that was developed for use in assessing the effect of symptomatic treatment on motor function in Parkinson's disease (PD). An online version has now been designed for use in a wider clinical context and the research setting. METHODS Validation of the online BRAIN test was undertaken in 58 pati...

Differential diagnosis of motor symptoms, for example, akinesia, may be difficult in clinical neuropsychiatry. Symptoms may be either of neurologic origin, for example, Parkinson's disease, or of psychiatric origin, for example, catatonia, leading to a so-called "conflict of paradigms." Despite their different origins, symptoms may appear more or less clinically similar. Possibility of dissocia...

Neurosurgery is not widely used to complement pharmacological treatment of Parkinson’s disease. Pallidotomy, a procedure involving heating of malfunctioning brain tissue with an electrode, is the method which has received greatest attention during the 1990s. Several uncontrolled studies have shown that pallidotomy reduces symptoms such as hyperkinesia (involuntary movement), rigidity (stiffness...

Myocardial infarction occurs rarely with thyrotoxicosis. A 34-year-old woman with thyrotoxicosis sustained a transmural myocardial infarction and subsequently on cardiac catheterization studies had no significant coronary arterial disease but only residual apical wall akinesia. Thyroid hormone may directly influence myocardial oxygen supply and demand and, by some unknown mechanism exclusive of...

The effect of adding hyaluronidase to regional ophthalmic anaesthesia with etidocaine 1.5% was examined. Two studies were performed in a double-blind fashion. In Study #1, 70 patients were given peribulbar anaesthesia with etidocaine either with or without hyaluronidase (7.5 IU.ml-1) using a standard intraorbital injection and separate lid injections. The block was supplemented as needed. Lower...

BACKGROUND AND OBJECTIVES Tako-Tsubo syndrome is a rare postoperative complication with a 5% mortality rate. The objective of this report was to present residual neuromuscular blockade as a trigger for this syndrome, discuss this disorder, and call attention to the risks of residual neuromuscular blockade. CASE REPORT A 61-year old female, physical status ASA I, who underwent general anesthes...

The clinical syndrome of pure akinesia has most often been associated with progressive supranuclear palsy (PSP) and is characterized by difficulty initiating gait and "freezing" during walking, writing and speaking. Similar syndromes have been described under the rubrics of primary progressive freezing gait and primary gait ignition failure. We investigated the specificity of the clinical syndr...