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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only. In type II, the deficiency occurs in all tissues and causes growth and mental retardation and other neurological impairments. RCM types I and II are caused by a defect in a single gene, which is located on chromosome 22 (locus DIA 1: q 13.31-qter). Prenatal diagnosis is possible. Cyanosis can be well treated by 200-500 mg of ascorbic acid daily; there is no effective therapy for the progressive neurological impairments. This report presents two siblings with central cyanosis, growth retardation, mental retardation, microcephaly, dystonia and hypertonia diagnosed as RCM type II.
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PMID:A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II. 1948 Mar 35

Botulinum toxin has become an important component of standard practice in the management of children with hypertonia (spasticity or dystonia). Following intramuscular injection, the neurotoxin causes a reversible neuromuscular blockade, creating both muscle weakness and a reduction in tone. Frequent goals of botulinum toxin injection include improving motor function, promoting longitudinal muscle growth and decreasing painful muscle spasms. The neuromuscular blockade lasts for three to six months on average. The clinical effect may last longer and the safety profile is excellent. Strong evidence, including randomized trials, exists for the efficacy of botulinum toxin in the management of lower and upper extremity tone in children. Common clinical indications include spastic equinus (toe walking), hip subluxation, upper extremity spasticity associated with hemiplegia or quadriplegia, and multilevel leg muscle injections in children with spastic diplegia.
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PMID:The use of botulinum toxin in paediatric hypertonia. 1966 43

A delayed consequence of a lesion affecting the upper motor neuron pathways is the appearance of some forms of motor overactivity, including spasticity. Many of these are caused by hyperexcitability of spinal reflexes, such as stretch reflexes (spasticity, tendon hyperreflexia) or flexor withdrawal reflexes (flexor spasms), and are elicited at rest by sensory stimulation. Spastic co-contraction is probably attributable to failure of reciprocal inhibition; it occurs only during active voluntary movement and constrains such movement. The basic underlying mechanism of these changes is not clear, although a change in the balance between the inhibitory and excitatory supraspinal upper motor neuron pathways toward net excitation most likely contributes. Increased intrinsic excitability of the alpha motor neurons is another possible factor. Spastic dystonia is most often seen as the presence of tonic muscle contraction in the absence of voluntary movement or spinal reflex activation, and the underlying mechanisms are obscure. Prolonged shortening of tissues, either because of weakness or muscle contraction, leads to stiffness of the soft tissues, which contributes to hypertonia and is thus self-perpetuating, and ultimately to contracture with fixed shortening. Some of these forms of motor overactivity produce involuntary movements (hyperkinetic), eg, flexor spasms, whereas others impair movement (hypokinetic), either voluntary movement, eg, spastic co-contraction, or passive movement, eg, spasticity. Quantification has mostly focused on hypertonia, that is, increased resistance at rest to passive movement. In the upper motor neuron syndrome, hypertonia could be caused by a combination of spasticity, spastic dystonia, and soft tissue stiffness (rheologic changes). Some measures, such as the Ashworth or Modified Ashworth Scales, quantify hypertonia but are very poor at distinguishing between spasticity and soft tissue stiffness. Another, the Tardieu Scale, is better at making this distinction, but quantification of the spasticity portion of hypertonia remains difficult, at least in a clinical setting.
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PMID:Spastic hypertonia and movement disorders: pathophysiology, clinical presentation, and quantification. 1976 16

We report a case of bilateral ocular deviation due to droperidol-induced acute dystonia that was initially undiagnosed. A 22-year-old, 72 kg, parturient at 42 weeks' gestation underwent emergency cesarean section for pregnancy-induced hypertension under combined spinal-epidural analgesia. The epidural catheter was inserted through the T11-12 interspace, followed by intrathecal hyperbaric bupivacaine with adjunctive fentanyl. The patient complained of nausea shortly after delivery, which subsided with intravenous droperidol 1.25 mg and metoclopramide 10 mg. After surgery, epidural infusion with a mixture of ropivacaine, fentanyl, and droperidol was started. Around 25 hours postoperatively, both of the patient's eyes rotated upwards, although she was fully conscious. Brain CT/MRI did not show any abnormalities. An ophthalmologist and a neurosurgeon were consulted but there was no definitive diagnosis. On subsequent consultation with anesthesiologists, it was assumed that the symptom was related to external ophthalmoplegia secondary to spinal anesthesia. Thereafter, a "wait and see" approach was adopted. After 8 hours, she gradually developed torticollis and increased muscle tone of the lower extremities, which facilitated a diagnosis based on extrapyramidal signs. Epidural infusion was discontinued without further treatment. Her symptoms completely disappeared within 5 hours. The estimated cumulative dose of intravenous and epidural droperidol was 4.6 mg over 34 hours.
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PMID:[Case of acute dystonia during epidural droperidol infusion to prevent postoperative nausea and vomiting]. 2016 68

Lower limb disorders of movement and muscle tone in adults significantly impact quality of life. The management of the patient with hypertonia is complex and requires a multidisciplinary team working with the patient and family/carers. Botulinum neurotoxin type A (BoNT-A) has been used as a component of this management to reduce lower limb hypertonia, increase passive range of motion and reduce associated pain and requirements for bracing. Adjunctive treatments to augment the effect of BoNT-A include electrical muscle stimulation of the injected muscles and stretching. When determining suitability for injection, the patient's main goals for intervention need to be established. Muscle overactivity must be distinguished from contracture, and the effect of underlying muscle weakness taken into account. Explanation of the injection process, potential adverse effects and post-injection interventions is essential. Assessment at baseline and post-treatment of impairments such as hypertonia, range of motion and muscle spasm are appropriate; however, the Goal Attainment Scale and other validated patient-centred scales can also be useful to assess therapy outcomes. In the future, initiatives should be directed towards examining the effectiveness of BoNT treatment to assist with achievement of functional and participation goals in adults with hypertonia and dystonia affecting the lower limb.
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PMID:Botulinum toxin assessment, intervention and aftercare for lower limb disorders of movement and muscle tone in adults: international consensus statement. 2063 79

Cerebral palsy is the most common motor disability in childhood. Orthopedic care depends on the appreciation and the identification of muscle tone abnormalities and how they affect growth and development of the child. Abnormal muscle tone is a common diagnostic feature of cerebral palsy and can include hypotonia or hypertonia. Hypertonia is the most frequent tone abnormality in children with cerebral palsy. This article reviews hypertonia and provides information on discriminating between spasticity, dystonia, and rigidity. Medication and neurosurgical options for the management of hypertonia are presented and compared.
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PMID:Assessment and treatment of movement disorders in children with cerebral palsy. 2086 81

We administered intramuscular injections of botulinum toxin type A (BTX-A) in 11 persons with cervical dystonia (CD) and muscular hypertonia (MH). All patients had severe motor and intellectual disabilities (SMID). Furthermore, in 10 patients, SMID was accompanied by respiratory problems and/or dysphagia. Three patients received night nasal intermittent positive pressure ventilation and 3 had undergone tracheotomy; 5 patients had upper respiratory problems. Because of these complications, BTX-A dose was gradually increased in those patients until the desired effect was obtained (mean last dose, 6.8 u/kg/dose). All patients were clinically assessed with the Tsui scale before treatment with BTX-A. At 1, 2, 4, and 8 weeks after BTX-A injections, responses to the injections were assessed with the Tsui scale repetitively in all patients. Significant or mild improvements in the Tsui scale scores were observed in 8 patients without any severe adverse effects. In addition, some improvements in respiration and body weight gain were observed. We observed a reduction in the number of oral medications in 10 cases. Administration of BTX-A for the treatment of SMID has numerous benefits, not all of which can be explained by Tsui scale scores. BTX-A is safe and has potential for use in the treatment of CD and MH with respiratory problems and/or dysphagia.
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PMID:[Efficacy of botulinum toxin type A against cervical dystonia and muscular hypertonia in persons with severe motor and intellectual disabilities with respiratory problems and/or dysphagia]. 2180 Jun 89

The purpose of this case report is to review the management of a boy with Lesch-Nyhan syndrome with deep-brain stimulation who had remission of self-injurious behaviors as a result. This patient was treated with intrathecal baclofen and, later, with deep-brain stimulation to reduce hypertonia. Goals were to improve wheelchair positioning for school attendance and to reduce the use of restraints for comfort. Intrathecal baclofen was implanted twice and decreased the hypertonia, but both were explanted because of infection. Deep-brain stimulation was initiated 2.5 years ago, and since that time, comfort and function have improved and caregiver burden has decreased. Improvements in dystonia with deep-brain stimulation have also occurred, and self-injurious behaviors have resolved.
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PMID:Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. 2194 Jun 91

Botulinum toxin type A (BTX-A) preparations are widely used nonsurgical treatments for facial wrinkles. Higher doses of BTX-A are also used for therapeutic purposes in the treatment of conditions involving increased muscle tone, such as cervical dystonia. The phenomenon of antibody-induced treatment failure is well known in the therapeutic setting, but reports are also emerging following cosmetic use of BTX-A. We describe the case of a 41-year-old female nurse who developed secondary treatment failure during 6 years of BTX-A treatment for glabellar lines. After a good response to the first BTX-A injection, the intensity and duration of effect decreased after subsequent treatments. Antibody tests revealed a high titer of neutralizing anti-BTX-A antibodies. This case shows secondary treatment failure due to the production of neutralizing antibodies following administration of BTX-A formulations for cosmetic purposes and demonstrates that immunogenicity of BTX-A preparations is an important consideration, even in the cosmetic setting.
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PMID:Antibody-induced secondary treatment failure in a patient treated with botulinum toxin type A for glabellar frown lines. 2216 43

Dystonia is a complex movement disorder that is challenging to identify and quantify. The aim of this article is to review the clinical scales, kinematic measures, and functional implications of dystonia. Clinical measures include the Barry-Albright Dystonia Scale, the Burke-Fahn-Marsden Movement Scale, the Unified Dystonia Rating Scale, the Global Dystonia Rating Scale, and the Movement Disorder-Childhood Rating Scale. The evidence, reliability, and validity of each scale will be outlined. The Hypertonia Assessment Tool will be discussed emphasizing the importance of discriminating hypertonia. The role of kinematic measures in analyzing dystonia will be explored, as well as the potential for its future clinical applications.
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PMID:Dystonia in childhood: clinical and objective measures and functional implications. 2275 85


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