Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dystonia is an interesting disorder characterized by involuntary movement of the body part or parts leading to abnormal deformed postures. The usual signs and symptoms are local pain, spasm and abnormal movements. Sensory trick is an important clinical phenomenon and is characteristic of dystonia. It is usually separated from other movement disorders such as chorea, athetosis, tics and myoclonus clinically. Various non-dystonic conditions simulate dystonia and need to be separated in view of different line of management. Improved understanding in molecular biology has helped in understanding of the disease. Confusing neuropathology and neurochemistry have deterred the finding of an effective drug, however empirical use of few drugs have improved the gloomy situation. Few conditions such as dopa-responsive dystonia have definite treatment. Recently use of botulinum toxin has provided beneficial response in hyper muscular contraction states such as dystonia and spasticity, Surgery and other non-medical therapies are effective in few situations.
 ...
PMID:A spectrum of dystonias-clinical features and update on management. 1127 44

Myoclonus, defined as shock-like involuntary movement, may be physiological or caused by a very wide variety of hereditary and acquired conditions. Because myoclonus can originate from different disorders and lesions affecting quite varied levels of the central and peripheral nervous systems, it represents from many points of view a diagnostic challenge. Moreover, new entities have been recently individualized, such as cortical tremor, which deserve renewed attention. The aim of this review is to propose a rationale for a diagnostic approach based on clinical and electrophysiological grounds. In this setting, we successively address 1) the clinical features allowing a positive diagnosis of myoclonus; 2) the clinical clues to the etiology; 3) the relevance of the clinical context to the diagnosis; and 4) the contribution of neurophysiology. Differentiating myoclonus from tics, spasm, chorea and dystonia can be difficult, and a careful reappraisal of clinical features allowing precise identification is presented. Moreover, the topographical distribution of myoclonus, the temporal pattern of muscle recruitment, the condition of occurrence and the rhythm of the event, may provide clinical clues relevant to the diagnosis. Myoclonus without associated epilepsy, myoclonus with epilepsy, myoclonus with encephalopathy, parkinsonism and/or dementia represent overlapping clinical categories, although they remain useful for the diagnostic approach. Using electrophysiology (including back-averaging EEG, MEG, SEP, C-reflex studies) to determine the origin of myoclonus may not allow us to focus on the underlying condition. Indeed, in many instances, the myoclonus is cortical in origin, but the pathology is found elsewhere.
 ...
PMID:[Myoclonus in the adult: diagnostic approach]. 1128 Oct 67

Botulinum toxin A has a wide variety of clinical applications, which are related by blockade of acetylcholine and often are related to abnormal muscle contractures. These applications include ocular disorders, disorders of the upper aerodigestive tract, dystonia and hemifacial spasm, cosmetic, gastrointestinal disorders, genitourinary disorders, management of pain, and use in autonomic nervous system disorders. Many of these diseases will be discussed with regard to their treatment with botulinum toxin compared to conventional treatments. Advantages and disadvantages of botulinum toxin use are delineated. General guidelines for adult and pediatric dosing will also be discussed.
 ...
PMID:Other noncosmetic uses of BOTOX. 1147 44

Doxorubicin chemomyectomy is a potent method for the permanent removal of a muscle or group of muscles after direct local injection, and has been used successfully to treat blepharospasm and hemifacial spasm patients. The efficacy of doxorubicin chemomyectomy on reducing muscle strength after direct injection of doxorubicin into rabbit sternocleidomastoid muscle was tested. One- and 6-month postinjection force assessment was performed in vitro to measure alterations in peak twitch and tetanic force generation, as well as fatigue responses for the treated muscles compared to control. There were significant reductions of both twitch and tetanic peak amplitudes in the doxorubicin-treated muscles. One month after treatment, the decreases in force were greater after 2 mg doxorubicin injections than after 1 mg doxorubicin. While there was a significant reduction in force generation after doxorubicin treatment, fatigue resistances for the doxorubicin-treated muscles were increased compared to the controls. There were significant reductions in muscle mass after doxorubicin treatment, and by 6 months, the myosin heavy chain isoform distribution was similar to normal sternocleidomastoid, except for an increase in slow myosin-positive fibers. Doxorubicin chemomyectomy resulted in a significant reduction in functional force generation in the treated sternocleidomastoid muscles. These findings suggest a potential clinical use of doxorubicin chemomyectomy to treat cervical dystonia patients.
 ...
PMID:Physiological assessment of muscle strength in vitro after direct injection of doxorubicin into rabbit sternocleidomastoid muscle. 1148 92

Facial spasms that distort facial expression are typically due to facial dystonia, tics, and hemifacial spasm (HFS). Psychogenic facial spasms, however, have not been well characterized. The authors sought to 1) determine prevalence of psychogenic facial spasm in patients referred for evaluation of HFS and 2) draw attention to clinical characteristics and potential diagnostic pitfalls. Among 210 consecutive patients referred for evaluation of HFS, 5 (2.4%) received diagnoses of psychogenic facial spasm. All patients were female; mean age was 34.6 years (range 26-45) and mean symptom duration 1.1 years (range 2 wk-2 yr). Onset was left-sided in 3 patients, and the lid was the initial site affected in 2 patients. This series of patients shows that facial spasms, although usually of neurovascular etiology, may be the initial or only manifestation of a psychogenic movement disorder, often associated with an underlying depression.
 ...
PMID:Psychogenic hemifacial spasm. 1151 45

Focal dystonias are relatively rare and significantly disabling disorders. These include cervical dystonia, blepharospasm and hemifacial spasm. The spasmodic torticollis consists of tonic posturing of the head away from its neutral position or twisting of the cervical muscles. The blepharospasm is an abnormal blinking, eyelid tic or twitch resulting from any cause. The hemifacial spasm is an involuntary unilateral twitching of the facial muscle. Patients affected by focal dystonias are predominantly females, and many times psychical stress can be revealed. The pathogenesis may involve dysfunction of the basal ganglia and brain stem although the exact mechanism remains to be elucidated. The patients need to be diagnosed and treated in centers specialized in movement disorders. Although many drug treatments can be beneficial, the most effective treatment is the local Botulinum toxin injection into the affected muscles. This neurotoxin produces temporary neuromuscular blockade, which reveals the symptoms and pain. The effect of the toxin is temporary and, therefore, the injection needs to be repeated every 6-12 weeks. The most common side effects are hypersensitivity, bleeding, hematoma, ptosis, facial spasm, dysphasia or dysarthria. With the use of proper dose and injection sites these side effects can be avoided.
 ...
PMID:[Clinical symptoms, diagnosis and treatment of focal dystonias]. 1176 Jun 45

OBJECTIVE: Botulinum A toxin has been reported to provide excellent symptomatic relief for patients with dystonia. To analyse the treatment, complications, and outcome of patients receiving botulinum A toxin injection, the case records of 170 patients attending the Botox Clinic at the Kwong Wah Hospital from 1 December 1992 to 31 December 1996 were reviewed. Of these 170 patients, 130 (76.5%) had idiopathic hemifacial spasm, 18 (10.6%) had blepharospasm, 18 (10.6%) had spasmodic torticollis, and 4 (2.4%) had generalised or focal limb dystonia. One hundred and sixty-six (97.6%) patients were Chinese. The average dose of botulinum A toxin required for an optimal response was 14.54 U for those with hemifacial spasm, 49.64 U for those blepharospasm, and 137 U for those with spasmodic torticollis. Among patients with hemifacial spasm, 103 (81.7%) gave a good response, 21 (16.7%) gave a partial response, and there was no response in two (1.6%) patients. The corresponding figures for patients with blepharospasm were 7 (38.9%), 10 (55.6%), and 1 (5.6%), respectively, and for those with spasmodic torticollis, the figure were 6 (37.5%), 6 (37.5%), and 4 (2.5%), respectively. Complications from botulinum A toxin injection were rare (less than 10%), minor, transient, and usually dose-related. In conclusion, idiopathic hemifacial spasm was the most common type of movement disorder encountered in our Botox Clinic and botulinum A toxin injection was safe and effective in the majority of patients.
 ...
PMID:Treatment of dystonia with botulinum A toxin: a retrospective study of 170 patients. 1183 Jun 82

We review epidemiological data on primary blepharospasm (BSP). There is a large variation in the stated prevalence of BSP, with crude estimates ranging from 16 to 133 per million in different studies. A large proportion of this variability may be the result of differences in physician education on BSP. Age and female gender may increase the risk of developing BSP. The few case-control studies focusing on adult dystonias including BSP showed an increased risk in association with family history of dystonia and/or postural tremor, prior head and face trauma, and prior eye disease (e.g., blepharitis and keratoconjunctivitis), and a decreased risk associated with cigarette smoking. No association was found with age-related medical conditions such as hypertension and diabetes, family history of parkinsonism, and a history of anxiety or depression. Broocks et al. [Am J Psychiatry, 1998;155:555-557] found a significantly higher frequency of obsessive-compulsive symptoms in BSP than hemifacial spasm despite the clinical similarity. Among putative risk factors for BSP, age at onset, female gender, and prior head or face trauma may affect spread of dystonia to adjacent body regions. While limited, the body of epidemiological data support the idea that environmental and familial, possibly genetic, factors may both be important in the etiology of BSP.
 ...
PMID:Epidemiology of primary blepharospasm. 1183 33

Direct intramuscular injection of doxorubicin results in permanent myofiber loss. A previous phase I trial demonstrated that such injections could successfully treat blepharospasm and hemifacial spasm. Our previous in vitro study demonstrated that doxorubicin resulted in a dose-dependent reduction in isometric force generation in sternocleidomastoid muscle in rabbits. This present study examined alterations in force generation in these treated muscles in situ, i.e., with the blood and nerve supply intact. Two months after a single doxorubicin injection, functional changes in peak twitch, tetanic force generation, and fatigue rate were assessed in control and doxorubicin-treated sternocleidomastoid muscles in rabbits. Peak force measurements were reduced in the treated muscles. These reductions in muscle strength were significantly greater at tetanic peak amplitudes. Fatigue rate was not altered by doxorubicin treatment of the sternocleidomastoid muscles. These findings support the potential clinical use of doxorubicin chemomyectomy for the treatment of patients with cervical dystonia.
 ...
PMID:Muscle strength following direct injection of doxorubicin into rabbit sternocleidomastoid muscle in situ. 1199 69

Reflex sympathetic dystrophy is characterized by constant burning pain and hyperesthesia in an extremity. Lower extremities are usually affected. Pain is accompanied by swelling, sweating, vasomotor instability and sometimes trophic changes. There may be a history of minor injury or not. Muscle spasms, myoclonus or focal dystonia may occur. Diffuse pain, loss of function and autonomic dysfunction are three main criteria suggested for diagnosis. Symptoms can last a few days to as long as a year. In this report we present a girl with multiple limb involvement of stage I RSD. The sympathetic skin responses were tested during a remission period. She had milder attacks with a recurrence rate of 4 per year in the following three years from onset.
 ...
PMID:Reflex sympathetic dystrophy in childhood. 1201 58


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>