Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 44-year-old woman with a partial 6-pyruvoyl tetrahydropterin synthase (6-PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremities (Meige syndrome plus double hemiplegia-like dystonia). A marked and sustained positive response to levodopa was observed. A molecular genetic study revealed a homozygous mutation (I114V) in the 6-PTS gene. This study indicates that genetic abnormality in the 6-PTS gene may be a hereditary dystonia disorder. We speculate that our patient has residual 6-PTS activity in the central nervous system, such as in the liver, and we suggest that residual, but insufficient production of tetrahydrobiopterin may play an important role in causing diurnal fluctuation of symptoms.
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PMID:6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. 915 37

Posthemiplegic focal limb or hemidystonias are rare movement disorders usually due to vascular lesions of the contralateral basal ganglia. The pathogenesis of posthemiplegic dystonia is unknown and its management is usually difficult. In this paper, we report two patients who suffered from a single limb dystonia and hemidystonia, respectively. In the latter patient, hemidystonia developed due to an ischaemic cerebrovascular accident 2 or 3 months after the recovery of hemiplegia. Computed tomography and magnetic resonance imaging scans showed evidence of contralateral putamen and thalamus infarcts.
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PMID:Posthemiplegic focal limb dystonia: a report of two cases. 963 5

A case of alternating hemiplegia of childhood is reported. Tonic fits and generalized tonic-clonic seizures developed during her infancy. Frequent twitching and apneic seizures appeared at 16 years of age. Zonisamide transiently suppressed the tonic, twitching and apneic seizures, as well as the facial and neck dystonia. Cranial computed tomography and magnetic resonance imaging revealed progressive vermian atrophy. Cerebellar dysfunction may play a role in the clinical features of some patients with alternating hemiplegia of childhood.
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PMID:A case of alternating hemiplegia of childhood with cerebellar atrophy. 1058 Aug 94

This paper describes a 20 year old woman with a new combination of neurological impairments in which the motor phenomena were responsive to corticosteroid treatment. She had lifelong moderate learning impairment. A variable ataxia with cerebellar characteristics was present from early life, with early severe exacerbation when seizures were uncontrolled. Atypical absence and simple and complex partial seizures were present from the first year of life and EEG abnormalities were maximal in the right parietal region, concordant with a mild non-specific abnormality of the white matter in the region of the trigone. Episodes of alternating hemiplegia occurred from 11 years, unassociated with seizures. Exercise induced dystonia occurred from the age of 5. After 10-20 minutes walking, her right foot would turn in and the right leg would stiffen, followed by the left and by falling and inability to get up for several minutes. Prednisolone improved her ataxia and was associated with cessation of both seizures and exercise induced dystonia. This adds a new syndrome to the corticosteroid responsive motor disorders associated with epilepsy.
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PMID:Exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy. 970 79

We report an infant with molybdenum cofactor deficiency (MCD) and a unique clinical presentation of hemiplegia, hypotonia, dystonia, and bilateral basal ganglia changes. Biochemistry revealed absent serum homocysteine, low concentrations of plasma cystine, high levels of urinary S-sulfocysteine and sulfite, and high levels of oxypurines in serum and urine. The depletion of cysteine and cystine through reaction with sulfite suggests that other thiols and thiol-dependent proteins may be similarly depleted. Ahomocysteinemia may be a clue to the mechanism of cytotoxicity in MCD.
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PMID:Ahomocysteinemia in molybdenum cofactor deficiency. 974 7

A young male patient who presented with steroid-responsive parkinsonism, hemiplegia, thrombocytopaenia and systemic illness who was subsequently diagnosed to have systemic lupus erythematosus (SLE) is described. He later developed post-hemiplegic dystonia. Thalamic lesions on magnetic resonance imaging (MRI) are demonstrated. Clinical features and neuropathology of central nervous system lupus are discussed. This is the first report of SLE presenting with Parkinsonism, and the first to demonstrate anatomically-relevant MRI lesions in Parkinsonism associated with SLE.Copyright Lippincott-Raven Publishers
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PMID:Systemic lupus erythematosus presenting with steroid-responsive parkinsonism and post-hemiplegic dystonia. 1021 Aug 49

The objective of this study was to determine whether the continuous intrathecal delivery of baclofen will control spastic hypertonia associated with long-standing hemiplegia from acquired brain injury. Six hemiparetic patients (average age, 50 (range, 42-66) yr) with more than 6 mo of disabling lower limb spastic hypertonia on one side caused by either a unilateral traumatic brain injury or a stroke were recruited in a consecutive manner. The setting was a tertiary care outpatient and inpatient rehabilitation center directly attached to a university hospital. Patients were screened via a randomized, double-blind, placebo-controlled, crossover design to receive either an intrathecally administered bolus injection of normal saline or 50 microg of baclofen. Data for Ashworth rigidity scores, spasm scores, and deep tendon reflex scores were collected on the affected upper limb and lower limb side. Those who dropped an average of two points on their affected lower limb side Ashworth scores were then offered computer-controlled pump implantation for continuous intrathecal administration of baclofen. Differences over time were assessed via descriptive statistics and Wilcoxon's signed-rank test. After 3 mo of treatment, the average lower limb Ashworth score on the affected side decreased from 3.7 +/- 1.0 to 1.9 +/- 0.6 standard deviation (SD) (P < 0.0001), the reflex score from 1.8 +/- 1.3 to 0.5 +/- 0.8 SD (P = 0.0208), and the spasm score from 1.3 +/- 1.2 to 0.8 +/- 1.3 SD (P > 0.05). The average upper limb Ashworth score on the affected side decreased from 3.4 +/- 0.9 to 2.1 +/- 0.9 SD (P = 0.0002), the reflex score from 2.3 +/- 0.5 to 1.7 +/- 0.5 SD (P > 0.050, and the spasm score from 0.8 +/- 1.3 to 0 +/- 0 SD (P > 0.05). The average intrathecally administered dose of baclofen that was required to attain these effects was 205.3 microg, which was continuously infused for 24 h. Continuous intrathecal infusion of baclofen is capable of maintaining a reduction in the dystonia on the hemiparetic side without significantly affecting motor strength on the normal side.
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PMID:Continuously infused intrathecal baclofen for spastic/dystonic hemiplegia: a preliminary report. 1034 Apr 23

We present our analysis of 44 patients with alternating hemiplegia of childhood. The clinical course usually consisted of three phases. The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor regression, and the third by persistent developmental delay and fixed neurologic deficits. The age of onset was 0-54 months (mean = 7.9 +/- 13 months). The presenting signs included abnormal ocular movements in 65%, dystonia in 60%, and hemiplegia in 32%. Patients with an early onset of the disorder and an early appearance of hemiplegic spells faired the poorest developmentally. Developmental delay was present in 91%, ataxia in 68%, choreoathetosis in 50%, and seizures in 18%. Laboratory investigations suggested mitochondrial abnormalities and cerebrovascular dysfunction in several patients. Numerous therapies were largely ineffective. Flunarizine reduced the duration, severity, and frequency of the hemiplegic attacks in 78%. Patients who received flunarizine did not differ developmentally from those who did not. Our data suggest that flunarizine does not adversely affect and may favorably influence the outcome in patients with alternating hemiplegia of childhood. Additionally, the occurrence of autosomal-dominant cases of the syndrome, although rare, suggests that, in addition to mitochondrial dysfunction, genetic factors may be important.
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PMID:Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. 1102 Jun 38

Abnormal movements of the body segments due to lowest level gait disorders such as musculoskeletal disorders, peripheral neuropathies and radiculopathies or middle-level disorders such as hemiplegia, paraplegia and dystonia influence the motion of the centre of gravity (CG) during walking. The translation of the CG can be studied by the work done by muscles (WExt) with respect to the ground. The efficacy of gait's mechanism can be quantified by the energy transferred between gravitational potential and kinetic energies (recovery). WExt and recovery were investigated in lowest and middle-level gait disorders during level walking. No statistical significant difference was observed between patients with lowest-level gait disorders and normal subjects. However, WExt was increased for the patients with middle-level gait disorders and recovery decreased up to 20%. The measurement of changes in mechanical energy of the CG might be a summary indicator for the mechanics of pathological gait.
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PMID:Motion of the body centre of gravity as a summary indicator of the mechanics of human pathological gait. 1115 35

The aim of this article is to describe our clinical experience in treating muscle imbalance in 49 children with spastic upper extremity involvement. We discuss four cohorts of children treated with botulinum toxin type A (BTX-A), each with different treatment objectives. In the first group, 27 children were treated for functional improvement and, of these, 23 had a positive effect, while four had no objective benefit. In the second group, eight children were treated for purposes of presurgical planning; of these, four were referred for surgery, three continued with serial treatment and one child did not benefit from injection. The third group comprised six children who were treated to improve posture and care: in this group, four children demonstrated clear benefit and two children lost some function subsequent to injection. Finally, a fourth group of seven children were treated after acquired brain injury (three with severe tetraplegia, four with hemiplegia). In this group, all children experienced spasticity relaxation and two children with hemiplegia also gained functional benefit. In terms of adverse events, deterioration of upper extremity function was poorly tolerated but limited to the first 1--3 weeks postinjection. Grip strength or thumb grip were diminished if too high doses were used. Overall, our results with BTX-A were rewarding in children with no fixed contracture, good motor learning capacity and high motivation to train. Additionally, BTX-A treatment has proven valuable for counteracting spasticity in children with acquired brain injury. This treatment modality may not, however, be an appropriate treatment option for all children with severe upper extremity spasticity, due to the shorter duration of effect and the potential reduction in functional abilities seen in this cohort. In all cases, the selection of muscles to be treated needs careful clinical assessment. Dynamic EMG analysis should be performed whenever required to aid muscle selection, especially in children with spasticity combined with dystonia. Evaluation of M-responses suggests that for the forearm muscles, doses of BTX-A above 1.5 U/kg/muscle should not be used.
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PMID:Management of the upper limb with botulinum toxin type A in children with spastic type cerebral palsy and acquired brain injury: clinical implications. 1185 42


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