Hyperkinetic Movement Disorders

2015 ◽  
Author(s):  
Devin Mackay ◽  
Edison Miyawaki

The hyperkinetic movement disorders include heterogeneous diseases and syndromes, all characterized by one or a variety of excessive, involuntary movements. The hyperkinetic movement disorders are heterogeneous in clinical presentation, but a rational and practical approach to diagnosis exists based on new genetic correlations and targeted laboratory investigations. Treatments informed by a still-developing picture of motor pathophysiology offer significant benefit for these disorders. This chapter discusses choreiform disorders, including patterns in choreiform diagnosis; tremor disorders; paroxysmal disorders, including tics and myoclonus; dystonias, including monogenic primary dystonias; and pathophysiology and treatment in the hyperkinetic movement disorders. Figures include clinical photos, computed tomography scans, and an algorithm representing cortical-subcortical circuitry. Tables delineate definitions, distinguishing clinical features, medications, genetics, protein products, and treatments associated with various disorders.  This review contains 6 figures, 12 tables, and 145 references.

2015 ◽  
Author(s):  
Devin Mackay ◽  
Edison Miyawaki

The hyperkinetic movement disorders include heterogeneous diseases and syndromes, all characterized by one or a variety of excessive, involuntary movements. The hyperkinetic movement disorders are heterogeneous in clinical presentation, but a rational and practical approach to diagnosis exists based on new genetic correlations and targeted laboratory investigations. Treatments informed by a still-developing picture of motor pathophysiology offer significant benefit for these disorders. This chapter discusses choreiform disorders, including patterns in choreiform diagnosis; tremor disorders; paroxysmal disorders, including tics and myoclonus; dystonias, including monogenic primary dystonias; and pathophysiology and treatment in the hyperkinetic movement disorders. Figures include clinical photos, computed tomography scans, and an algorithm representing cortical-subcortical circuitry. Tables delineate definitions, distinguishing clinical features, medications, genetics, protein products, and treatments associated with various disorders. This chapter contains 6 figures, 12 tables, 145 references, and 5 Board-styled MCQs.


1994 ◽  
Vol 31 (2) ◽  
pp. 97-105 ◽  
Author(s):  
Stephanie M Moffat ◽  
Jeffrey C. Posnick ◽  
Gaylene E. Pron ◽  
Derek C. Armstrong

The unoperated cranio-orbito-zygomatic complex of 18 children (mean 4.7 years) with frontonasal dysplasia (FND) and 12 children (mean 1.1 years) with craniofrontonasal dysplasia (CFND) was quantified by 15 standard measurements performed on either computed tomography scans or facial tomograms. The results were compared with age-matched control values. In the FND group, the mean anterior interorbital and mid-interorbital distances were significantly increased at 148% and 118% of normal, and in the CFND patients, at 177% and 140% of normal. Excessive medial orbital wall protrusion (mean, 145% of normal in FND and 177% in CFND), shortened zygomatic arch lengths (mean, 94% of normal In FND and 91% in CFND), and reduced cephalic lengths (mean, 96% of normal in FND and 83% in CFND) were all observed. An expanded interzygomatic buttress distance was documented only in the CFND group, at 111% of normal. The clinical presentation of craniofacial deformities such as FND and CFND can be objectively described by a numerical analysis of the bony pathology.


Author(s):  
Hiroshi Shibasaki ◽  
Mark Hallett ◽  
Kailash P Bhatia ◽  
Stephen G. Reich ◽  
Bettina Balint

This book is aimed at describing clinical features of various kinds of involuntary movements by demonstrating a number of cases on video. Most of the video cases presented in this book were directly observed and studied by at least one of the five authors, and a few cases were from the published paper with permission. The authors also discuss the current consensus about the classification, pathophysiology, and current treatment of each involuntary movement. This book adopts a unique way of looking at movement disorders by considering two aspects of the diagnosis: Axis 1, the phenomenology, and Axis 2, the etiology and/or pathophysiology. The visual appearance of the disorder, as seen on video, is a big part of Axis 1 diagnosis.


Author(s):  
Alastair K.O. Denniston ◽  
Philip I. Murray

‘Neuro-ophthalmology’ provides the reader with a practical approach to the assessment and management of neuro-ophthalmic disease. After outlining the relevant anatomy and physiology of the relevant structures, the chapter addresses the key clinical presentations arising from neuro-ophthalmic disease, notably optic neuritis, ischaemic and other optic neuropathies, papilloedema, headache disorders, neurological eye movement disorders, anisocoria, and nystagmus. Using a patient-centred approach the key clinical features, investigations and treatment (medical and surgical) are described for each condition.


2020 ◽  
Vol 2020 (6) ◽  
Author(s):  
Khurum Mazhar ◽  
Aditya Narain ◽  
Saifullah Mohamed ◽  
Akshay J Patel ◽  
Qamar Abid ◽  
...  

Abstract The following report describes a case in which air in the aorta led to stroke from cerebral emboli in a patient with distal oesophageal cancer. The patient presented with clinical features of a right-sided stroke. Computed tomography scans revealed air in the ascending aorta and brachiocephalic artery as a result of an oesophago-atrial fistula. The patient deteriorated and died soon after hospital admission despite conservative measures successfully dissipating the air. When encountered, emergent treatment of the underlying cause should be addressed but the outcome remains poor.


‘Neuro-ophthalmology’ provides the reader with a practical approach to the assessment and management of neuro-ophthalmic disease. After outlining the relevant anatomy and physiology of the relevant structures, the chapter addresses the key clinical presentations arising from neuro-ophthalmic disease, notably optic neuritis, ischaemic and other optic neuropathies, papilloedema, headache disorders, neurological eye movement disorders, anisocoria, and nystagmus. Using a patient-centred approach, the key clinical features, investigations, and treatment (medical and surgical) are described for each condition.


2018 ◽  
Vol 5 (2) ◽  
pp. 70-73
Author(s):  
Kishor Manandhar

Hydatid disease is becoming a public health problem in Nepal. Majority of the patients have hydatidosis of liver and lungs. Primary splenic hydatidosis is rare. The clinical presentation of primary splenic hydatidosis is similar to other cystic splenic pathologies. It presents with slow growing, dull aching left upper quadrant abdominal lump. Ultrasonography and computed tomography scans are helpful in diagnosis. We report a 36 years lady with primary splenic hydatidosis, who successfully underwent open en bloc resection of hydatid cyst along with total splenectomy.


2002 ◽  
Vol 6 (47) ◽  
Author(s):  
N Crowcroft

A man has been admitted to hospital in Scotland with an acute neurological illness that is being investigated as a suspected case of rabies (1,2). The possible diagnosis of a rabies-like illness is being considered because of some aspects of the clinical presentation and because the man is a bat handler who has been bitten by a bat in Scotland on at least one occasion within the possible incubation period for rabies. There is no documented evidence that the patient has ever received rabies immunisation or has travelled abroad since 1996. Although the clinical features of the man's illness are compatible with some aspects of rabies, none of the laboratory investigations yet indicate that a rabies-like virus is responsible. Testing for rabies and rabies-like virus is not, however, straightforward and more tests are being undertaken. The case has raised awareness of the possibility of rabies-like virus infection of bats in the United Kingdom (UK) (3).


VASA ◽  
2012 ◽  
Vol 41 (2) ◽  
pp. 132-135 ◽  
Author(s):  
Krohn ◽  
Gebauer ◽  
Hübler ◽  
Beck

The mid-aortic syndrome is an uncommon clinical condition characterized by severe narrowing of the descending aorta, usually with involvement of its renal and visceral branches, presenting with uncontrollably elevated blood pressures of the upper body, renal and cardiac failure, intestinal ischemia, encephalopathy symptoms and claudication of the lower limbs, although clinical presentation is variable. In this article we report the case of an eleven-year-old patient with the initial diagnosis of a mid-aortic syndrome and present the computed tomography angiography pictures and reconstructions before and after surgical therapy.


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