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Homocystinuria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Impaired mental development is common but not invariable. About 50 percent of untreated patients have intellectual disability [4, 14]. Presenting as developmental delay during the first years of life, intellectual disability is often the first recognized sign of homocystinuria. Focal neurologic disease is due to cerebrovascular accidents. Thrombotic or vascular disease appears as a central pathomechanism of disease involving the nervous system. In patients responding to pyridoxine, the mean IQ was 78, while that of nonresponders was 64 [4]. IQ scores among affected siblings were similar [14]. Seizures occurring in about 20 percent of patients and abnormalities of the electroencephalogram (EEG), also common, probably also reflect the variable nature of vascular accident in this disease. Many patients have been observed to have typical strokes, with transient or permanent hemiplegia. A number of patients have had polymyoclonus, dystonia and parkinsonism, not caused by basal ganglia infarction [14–19]. Spasmodic torticollis may usher in ultimately fatal dystonia.
Tension-type headache: diagnosis and treatment
Published in Stephen D. Silberstein, Richard B. Upton, Peter J. Goadsby, Headache in Clinical Practice, 2018
Stephen D. Silberstein, Richard B. Upton, Peter J. Goadsby
One lesson from the experience to date with BTX-A in therapy of tension-type headache is that the injection should be performed at the site of the pain or the trigger points and not on a standardized basis. Injection is made specifically into the affected muscle in the treatment of patients with dystonia, and this must also be done in the treatment of pain. BTX-A would fail to have a therapeutic effect on spasmodic torticollis under a bilateral standardized injection regime, and the same applies to the treatment of TTH.159
Botulinum toxin type A treatment for depression, Raynaud's phenomenon, and other novel dermatologic therapeutic applications
Published in Anthony V. Benedetto, Botulinum Toxins in Clinical Aesthetic Practice, 2017
Irèn Kossintseva, Benjamin Barankin, Kevin Smith
Since BoNT-A was first reported to be useful for the reduction in the pain of spasmodic torticollis in 1985,1 the number of references in PubMed Central to “botulinum” and “pain” has been growing at an increasing rate, and by January 2016 there were over 3000 publications.2 The list of painful conditions reported to respond well to BoNT-A is also growing, and now includes some dermatologic conditions, and other conditions like headache which are treated by some dermatologists who have expertise in the use of BoNT-A.3,4
Cervical dystonia: an update on therapeutics
Published in Expert Opinion on Orphan Drugs, 2019
Shivam Om Mittal, Abhishek Lenka, Joseph Jankovic
Cervical dystonia (CD) is defined as a neurological syndrome characterized by involuntary, sustained, patterned, and often repetitive muscle contractions of cervical muscles, causing twisting movements or abnormal positions of the neck and head [1–3]. CD, the most common dystonia seen in movement disorders clinics, often impacts the quality of life due to involuntary movements and abnormal postures of neck and head, neck pain, limitations in the range of neck movements, embarrassment, and other psychosocial problems [4]. Based on a registry of 1,038 patients, about 58% reported decreased productivity at work due to CD and approximately 40% lost their employment due to CD, predominantly due to neck pain symptoms [5]. Patients with higher Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) score for severity and disability also had more severe neck pain symptoms [6]. Thus, optimizing treatment to improve the dystonia also ameliorates neck pain. Patients with CD can have head tremor, classified as ‘yes-yes,’ ‘no-no,’ or mixed jerky head oscillations. CD with head tremor is subtype of CD patients, mostly seen in elderly woman and have more generalized ataxia, gait and speech issues compared to the non-tremulous dystonic phenotype [7].
René Cruchet (1875–1959), beyond encephalitis lethargica
Published in Journal of the History of the Neurosciences, 2022
He asserted he was the first to identify neuralgic torticollis, a defensive attitude, comparing this clinical picture to facial neuralgia. The professional form was due to a repeated movement or position sustained for a long time, as in the case of writer’s cramp. He established a similarity between paralytic torticollis and facial palsy that can result in a spastic residual contraction. Spasmodic torticollis was similar to facial spasms and could “present as spasmodic bradykinesia, an entirely new disease or one that has not attracted notice until now, our description being the first, as validated by the English School” (1920b).
The cost-effectiveness of abobotulinumtoxinA (Dysport) and onabotulinumtoxinA (Botox) for managing spasticity of the upper and lower limbs, and cervical dystonia
Published in Journal of Medical Economics, 2022
Natalya Danchenko, Karissa M. Johnston, John Whalen
Spasticity involves muscle hypertonia which can be painful, result in complications, and decrease the ability to perform activities of daily living such as self-care and quality-of-life1,2. It is a complex condition to manage as it can cause muscle contracture and deformity, potentially limiting function and movement2–4. Spasticity can affect the lower limbs, neck, and upper limbs. Cervical dystonia (CD), or spasmodic torticollis, is a painful condition that involves involuntary contraction of neck muscles which causes uncontrollable head tilting and twisting5.