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

Injuries to the cervical region have been associated with high-G loads sustained during air combat maneuvering (ACM) in high performance fighter aircraft. The spectrum of injuries ranges from mild neck pain to musculoskeletal strain, injury to the nerve roots or spinal cord, and fracture of the cervical spine. A 36-year-old fighter pilot with 2,800 h in tactical jet aircraft developed progressive cervical dystonia (spasmodic torticollis), following an ACM flight. The patient was successfully treated with local intramuscular injections of botulinum toxin into the affected cervical muscles, resulting in total relief of his spasmodic torticollis. The aeromedical considerations of this rare complication of exposure to G forces in high performance aircraft are discussed.
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PMID:Cervical dystonia following exposure to high-G forces. 224 35

Idiopathic spasmodic torticollis is a type of focal dystonia. Major muscles which rotate the neck are M. sternocleidomastoideus (SCM) and M. splenius capitis (Spl) on both sides. In torticollis patients, its clinical characteristics could be understood as a vectorial summing up of tonus in bilateral SCM and Spl at rest. There is not any curative treatment for dystonia yet. A variety of medications and many types of surgical interventions have been tried without consistent or satisfactory results. In recent days local injection of botulinum-A toxin has shown to be effective in weakening focal dystonias. We used pure ethanol for local injection. Fourteen patients aged between 20-77 years (mean 48.9) were treated by alcoholisation. Disease duration ranged from 5 months to 12 years (mean 4.9 years). All had torticollis alone or had segmental dystonia containing spasmodic torticollis. Patients were recorded electromyographically using surface electrodes to make sure which neck muscles were hypertonic, and were rated before and after treatment according to the stages (0; normal-5; most severe). On the bases of these recordings the two most active muscles were selected for injection. Into the motor point of these muscles 1 ml of 1% lidocaine, and then the same dose of 99% ethanol were injected. This procedure was repeated on the mean ten times (6-14 times) every other week. The number of times of injection was decided in each case. Using the paired Student t test, there was a significant (p less than 0.01) improvement of the stage for the patients after injection, with a mean of 3.7 before treatment and 2.3 after treatment.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Local alcoholisation treatment of spasmodic torticollis]. 224 25

Dystonia musculorum deformans (DMD) is an idiopathic movement disorder which usually involves pediatric age group and progresses to the generalized type. On the contrary in adult-onset DMD, dystonia is usually confined to an upper extremity and its clinical course is benign. The authors report seven patients with adult-onset DMD whose initial symptom was confined to the neck. Diagnosis of idiopathic spasmodic torticollis had been made in all of them. Average ages at the onsets of torticollis and extranuchal dystonia were 49 +/- 13 and 54 +/- 9 years (mean +/- SD) respectively. The duration between these onsets was 2-3 years in five patients and 10-17 years in two younger patients. Two patients finally developed generalized dystonia and one patient became hemidystonic type. These findings suggest that some patients diagnosed as idiopathic spasmodic torticollis are in an early stage of DMD and that this particular type progresses more likely to the generalized form than other types of adult-onset DMD.
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PMID:[Torticollis as an initial symptom of adult-onset dystonia musculorum deformans]. 224 82

Alcohol-responsive myoclonic dystonia is reported in 26 individuals in a six-generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arms, shoulder, and neck distribution was seen in 17, with occasional generalized jerks in 14. Leg dystonia/hemidystonia was seen in two infant cases, writer's cramp in seven, torticollis/retrocollis in two, and finger tremor in three. The onset of myoclonus was regularly reported from 2 to 3 years of age, the onset of leg dystonia/hemidystonia from 6 to 18 months of age, writer's cramp from early school age, and neck dystonia from late teenage. The effect of alcohol had been noted in 10 individuals, and seven of them abused alcohol. Once established, the neurological signs did not progress significantly. Leg dystonia resolved in two juvenile members. Two adult members had recovered from myoclonus: one elderly man and one posthemorrhagic spastic hemiplegic man. Extensive family investigation is necessary to clarify the clinical variation of this autosomal dominant disorder of involuntary movements.
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PMID:Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. 225 50

Five patients presenting with isolated tremors of the trunk or neck are described. Their clinical features were similar to seven other patients who presented with head tremor, or arm and head tremor, but then eventually developed obvious torticollis, sometimes with arm dystonia. We conclude that isolated tremor of the trunk or head, especially of slow frequency (2-5 Hz), and in the case of the head in a "no-no" direction, may be the initial manifestation of focal dystonia.
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PMID:Trunk and head tremor as isolated manifestations of dystonia. 225 64

The blink reflex and its recovery cycle were examined in 57 patients with idiopathic dystonia affecting different parts of the body. The group comprised 9 patients with generalized and 15 with segmental forms, 19 with torticollis, and 14 with focal arm dystonia. None had blepharospasm. The duration and amplitude of the R2 component of the blink reflex showed only minor changes. However, its recovery cycle to paired supraorbital nerve stimuli was abnormal in all groups of patients, except those with focal arm dystonia. These findings may be interpreted as showing abnormal control of the interneuronal networks mediating the blink reflex in patients with dystonia affecting sites other than the facial muscles. The fact that the principal changes were seen in patients with torticollis, and generalized or segmental dystonia, suggests that the extent of dystonia (rather than the severity) and, therefore, the close proximity to the cranial muscles was important in determining the extent of the abnormal interneuron function.
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PMID:The blink reflex in patients with idiopathic torsion dystonia. 232 35

We studied the H-reflex recovery curve and reciprocal inhibition of the H-reflex bilaterally in the upper limb of 5 patients with generalized dystonia, 5 patients with blepharospasm, 10 patients with spasmodic torticollis, and 14 patients with writer's cramp. We compared the results with those obtained from a group of healthy volunteers. The recovery curve of the H-reflex was normal in patients with writer's cramp or blepharospasm, but showed an increase of the physiologic recovery at a 200 msec delay in patients with spasmodic torticollis or generalized dystonia. Reciprocal inhibition of the H-reflex showed a decrease in the amount of inhibition in all the patient groups and a facilitation of the H-reflex during the 3rd period of inhibition in the patients with spasmodic torticollis or generalized dystonia.
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PMID:H-reflex recovery curve and reciprocal inhibition of H-reflex in different kinds of dystonia. 233 Jan 11

The rates of spontaneous remission and progression of dystonia to other sites were studied in 72 patients who first presented with adult-onset torticollis, and who were followed up for a mean of 7.7 years. Dystonia had progressed to sites other than the neck (mainly the face and upper limbs) in 23 patients (32%). The latter cases were not differentiated from those with isolated torticollis in terms of any of the demographic or clinical features studied, although they tended to have suffered from torticollis longer. Fifteen patients (20.8%) had experienced a spontaneous remission of their torticollis, which was sustained for a median period of 3 years in 9 cases (12.5%). Eighty-seven percent of the 15 remissions had occurred during the first 5 years of the illness. In the 9 cases with sustained remission, the duration of torticollis before spontaneous remission was significantly longer and remission had mostly occurred after 2 years of illness compared with the 6 who had relapsed. The 15 cases with spontaneous remission tended to have an earlier age of onset compared with those with no remission. Sixty-five percent of cases were correctly classified on the basis of age at onset, which emerged as the only salient variable in the discrimination of the 15 patients with spontaneous remission from the 57 without spontaneous remission. Age at onset, form of torticollis, gender, and direction of head deviation resulted in a correct classification rate of 70%, in the discrimination of the 9 cases with sustained remission from those with no remission.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Natural history of adult-onset idiopathic torticollis. 233 2

Nineteen patients with spasmodic torticollis, unresponsive to standard therapy, were administered local injections of botulinum-A toxin into the affected muscles. During an average follow-up period of 11.5 months, a more than 25% improvement was noted in 14 of 19 patients. All those with purely focal dystonia and 9 of 10 patients with a disease history of less than three years benefited from treatment. Side effects were insignificant and transient. Botulinum toxin is a very effective and safe method of treatment for spasmodic torticollis.
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PMID:Treatment of idiopathic spasmodic torticollis with botulinum-A toxin: a pilot study of 19 patients. 233 26

Botulinum-A toxin (botAtox) was used in the treatment of blepharospasm (BS), idiopathic hemifacial spasm (HFS), idiopathic spasmodic torticollis (ST) and apraxia of eyelid opening (AEO). The injection of 7.5-30 U botAtox per eye spread over 3 or 4 sites in the palpebral part of orbicularis palpebrae (OP) reduced palpebral spasm in 12/13 cases of BS and in 7/8 cases of HFS. The effect lasted for 14.5 weeks on average (range 4-30 weeks). Palpebral ptosis (lasting 1-3 weeks) was the most frequent side effect (16/107 eyes treated) but was not related to dose of botAtox or number of inoculation sites. Injection of 60-160 U botAtox into the sternocleidomastoid, trapezius and splenius capitis muscles reduced ST objectively in 1/4 patients for about 4 weeks. In the other patients the reduction or abolition of the hypertrophy of the previous hyperactive muscles was accompanied by persistence or rearrangement of the dystonia pattern, suggesting a change in the pattern of activity of the neck muscles after botAtox. 5 U botAtox per eye spread over 4 sites in the OP significantly reduced the frequency of the episodes of involuntary eyelid closure in 2 patients with AEO but not BS. The therapeutic effect lasted for 7 months after the first treatment and for 8 months after the second in a 46 year old woman with a 6 month history while the second patient (72 year old parkinsonian) has now completed her 3rd month of treatment.
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PMID:Botulinum A toxin treatment for eyelid spasm, spasmodic torticollis and apraxia of eyelid opening. 238 98


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