Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients with amyotrophic lateral sclerosis proved postmortem had nystagmus in addition to typical clinical signs of motor neuron disease. The first patient had gaze-evoked rotatory nystagmus that was followed by horizontal nystagmus in the primary position with supranuclear paresis of horizontal gaze and upgaze. The second patient had rotatory nystagmus that was evoked by lateral gaze, with normal range of eye movements. Nystagmus is so rare in motor neuron disease that these observations may imply another disease, but postmortem examination did not provide any other explanation. These two cases add to the increasing evidence that motor neuron disease comprises a heterogeneous group of disorders.
 ...
PMID:Nystagmus in motor neuron disease: clinicopathological study of two cases. 646 63

Aim of this study was to determine sensitivity and specificity of the mastoid vibration test in patients who had suffered an attack of vestibular neuritis. Results were compared with the caloric test and two bedside tests of vestibular function (head shaking test and head thrust test). Results are reported in 28 patients who had a residual vestibular deficit 6 months after acute neuritis and in 25 healthy subjects. Mastoid vibration nystagmus was evoked in 21 patients but not in controls. In these patients, mastoid vibration test had a sensitivity of 75% and specificity of 100%. Since one patient had inverted mastoid vibration nystagmus, specificity of identification on the pathological side was 95%. Sensitivity of the test increased with increasing severity of the vestibular lesion. Indeed, mastoid vibration nystagmus was induced in 93% of patients with caloric paralysis and in 58% of those with caloric paresis. Nystagmus could usually be modulated or elicited by stimulation of either mastoid. In the few patients in whom mastoid vibration nystagmus was elicited only from one side, or when there was a clear difference in intensity of the nystagmus induced on the two sides, the stimulated side was more often the affected side. Four patients still showed spontaneous nystagmus. The caloric test was abnormal in 26/28 patients (93%) with paralysis in 16 and paresis in 12; 71% of patients had a head shaking induced nystagmus: 64% had an asymmetrical response in head thrust test. In conclusion, mastoid vibration test was overall more sensitive than head thrust test. Mastoid vibration test was slightly less sensitive than head shaking test in patients with severe residual deficit and more sensitive in patients with partial deficit. Mastoid vibration test, a valid, low cost clinical screening test for rapid detection of asymmetrical vestibular function, does not cause patient discomfort. It is suggested that this test be included in the diagnostic workup of all patients with suspected vestibular dysfunction.
 ...
PMID:Sensitivity and specificity of mastoid vibration test in detection of effects of vestibular neuritis. 1660 25

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by impaired thyroid hormone transporter. Patients with AHDS usually exhibit severe motor developmental delay, delayed myelination of the brain white matter, and elevated T3 levels in thyroid tests. Neurological examination of two patients with neurodevelopmental delay revealed generalized hypotonia, and not paresis, as the main neurological finding. Nystagmus and dyskinesia were not observed. Brain magnetic resonance imaging demonstrated delayed myelination in early childhood in both patients. Nevertheless, matured myelination was observed at 6 years of age in one patient. Although the key finding for AHDS is elevated free T3, one of the patients showed a normal T3 level in childhood, misleading the diagnosis of AHDS. Genetic analysis revealed two novel SLC16A2 mutations, p.(Gly122Val) and p.(Gly221Ser), confirming the AHDS diagnosis. These results indicate that AHDS diagnosis is sometimes challenging owing to clinical variability among patients.
...
PMID:Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. 2894 50