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)

To evaluate the topographical neurological distribution, patterns of abnormal tone and related functional neuromotor impairment after grade 3 and grade 4 intraventricular/periventricular haemorrhage (IPVH), 33 children with previous grade 3 or 4 IPVH of mean gestational age 30.9 weeks (range 25-40 weeks) and mean birth weight 1743 g (range 866-3600 g) were examined neurologically at 4.7 years (range 0.75-10.8 years). Neurological signs were absent in 10/33 cases which were equally distributed between the grade 3 and grade 4 IPVH groups. The largest single topographical neurological distribution was hemiparesis in 8/23, followed jointly by diplegia (cerebral paraplegia) in 6/23 and triplegia in 6/23 cases and finally quadriplegia in 3/23 cases. Grade 4 IPVH tended to result in asymmetrical syndromes, accounting for 7/8 cases of hemiparesis and 5/6 cases of triplegia, whereas all 3/3 cases of quadriplegia followed grade 3 IPVH. The 6/23 cases of diplegia were shared between the grade 3 and grade 4 IPVH groups. Tone was normal in 7/8 of the hemiparetic subjects. Dystonia was the commonest tone abnormality, affecting 8/23 children with neurological disturbance, followed by ataxia/hypotonia in 4/23 and mixed dystonia/hypotonia in 3/23. Only 1/23 cases had signs of spasticity. Spasticity is rare following severe IPVH. Diplegic children had a better functional neuromotor grade than hemiparetic children, who in turn did better than triplegic children. Ataxia hypotonia resulted in better functional outcome than dystronia, which in turn was more favourable than mixed tone patterns. Cranial imaging by ultrasound (US) or computed tomographic (CT) scanning proved an unreliable prognostic indicator except in the case of hemiparesis, for which US scans correctly predicted the affected side in 5/7 cases. The neurological syndromes following severe IPVH differ from the classical encephalopathy of prematurity, and this should lead to a re-appraisal of the trends in the prevalence of cerebral palsy. Caution should be exercised in the interpretation of cranial imaging with regard to pessimistic prognoses in the presence of changes or undue optimism in their absence.
 ...
PMID:Heterogeneity of neurological syndromes in survivors of grade 3 and 4 periventricular haemorrhage. 840 2

Neurocysticercosis commonly presents with seizures, raised intracranial tension and dementia. The unusual location of the cysts may result in uncommon manifestations mimicking a host of neurological disorders. Ten patients with neurocysticercosis with rare clinical presentations have been described in this series. These include dorsal midbrain syndrome, isolated bilateral ptosis, papillitis, cerebral hemorrhage, painful cervical radiculopathy, progressive swelling of arm, paraplegia due to intramedullary cyst, third ventricular cyst, dystonia and nominal aphasia masquerading as transient ischaemic attacks. The clinical details and possible mechanisms for these rare presentations are discussed.
 ...
PMID:Uncommon presentations of neurocysticercosis. 954 30

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.
 ...
PMID:Motion of the body centre of gravity as a summary indicator of the mechanics of human pathological gait. 1115 35

There were two hypotheses of functions of supplementary motor area (SMA): supplementary vs. supramotor, in 1980s. Clinically, SMA can develop a very intractable seizure focus characterized by unique ictal motor symptoms, and its dysfunction is also strongly related to the cardinal clinical features in patients with Parkinson's disease and dystonia. In patients with intractable partial seizures arising from the mesial frontal area who needed clinically chronic implantation of the subdural electrode grids for 1-2 weeks prior to the focus resection, we recorded movement-related cortical potentials or Bereitschaftspotentials (BPs) prior to the voluntary movements. As the results, 1) SMA proper, a caudal part of SMA showed a somatotopy of BP generators in accordance with each part of the voluntary movements in the body, 2) bilateral SMAs were involved in each side of the body movements equally, and the amplitude did not differ from one in the contralateral primary motor area (MI), and thus it proved that SMA proper played as a significant role in preparation for voluntary movements as MI. Furthermore, we clarified the functional significance of pre-SMA with regard to sensorimotor integration, decision making, repetitive rate of voluntary movements, voluntary motor inhibition and negative motor response. Clinically we also clarified the pathophysiology of SMA seizures, and impairment of SMA function in Parkinson's disease and dystonia. We look forward to clinical application of brain potentials from SMA in the field of brain-computer interface such as assessment and restorative approach in patients with spinal cord injury, paraplegia or motor neuron disease.
 ...
PMID:[Human supplementary motor area: a role in voluntary movements and its clinical significance]. 1749 31

Clinically, seizures from supplementary motor area (SMA) are characterized by asymmetric bilateral tonic posturing without loss of awareness, and its dysfunction is also strongly related to the clinical cardinal features in patients with Parkinson's disease and dystonia. By investigating Bereitschaftspotentials (BPs) from SMA, the following normal functions are elucidated. 1) SMA proper, a caudal part of SMA showed a somatotopy of BP generators in accordance with each part of the voluntary movements in the body, 2) bilateral SMAs were involved in each side of the body movements equally, and the amplitude did not differ from one in the contralateral primary motor area (MI), 3) pre-SMA was strongly related sensorimotor integration, decision making, repetitive rate of voluntary movements, voluntary motor inhibition and negative motor response. We look forward to clinical application of brain potentials from SMA in the field of brain-computer interface such as assessment and restorative approach in patients with spinal cord injury, paraplegia or motor neuron disease.
 ...
PMID:[Human supplementary motor area: a role in voluntary movements and its clinical significance]. 1821 Jul 84

Spinocerebellar ataxia 3 (SCA3), also known as Machado-Joseph disease (MJD) is an autosomal dominant, progressive neurodegenerative disorder. Patients present with cerebellar ataxia, dystonia, rigidity, and neuropathy that worsen with time. On a molecular level, it occurs due to a CAG trinucleotide repeat expansion in the ATXN3 gene. Due to the risk of pulmonary aspiration, hypoventilation, autonomic and thermoregulatory dysfunction, vocal cord paralysis, progressive paraplegia, parkinsonian symptoms, and chronic pain, it has significant anesthesia implications. Rarely, case reports occur in the literature describing regional anesthetic management of patients with SCA3, but none that describe general anesthesia specifically with MJD. We therefore describe a case of a patient with SCA3 who successfully underwent general anesthesia and considerations for perioperative management of this patient population.
 ...
PMID:Sentinel Node Biopsy and Lumpectomy in a Patient with Machado-Joseph Disease. 3193 55