Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Electroneurography of soft palate, Eustachian tube and pharynx was carried out in 60 normal adults and 187 patients. This test was performed on the 2-channel Schwarzer 2,000 electromyograph. The 2 cm long concentric needle electrodes were used for recording and were inserted into muscles of glossopalatinus, pharyngopalatinus, tensor veli palatini and levator veli palatini. Four cm long stimulating electrodes were used to stimulate the mandibular branch of trigeminal nerve and pharyngeal branch of vagus nerve. Stimuli of 100 voltage were delivered as rectangular pulses of 0.1-0.2 ms duration at a rate of 1-2 Hz. In normal subjects, the latency of the evoked wave induced from tensor veli palatini by stimulating the mandibular branch of trigeminal nerve was 1.8 +/- 0.6 ms. The latency of the evoked wave induced from levator veli palatini, glossopalatinus, pharyngopalatinus were 1.9 +/- 0.6, 2.0 +/- 0.4, 1.9 +/- 0.7 ms respectively. In 35 patients with paralysis of soft palate and pharynx, no evoked potential could be recorded in 18 cases, meaning complete nerve injury, latency delayed in 10 cases, indicating partial nerve injury, normal latency of evoked potential in 7 cases. One hundred and twenty-four cases of otitis media, 20 cases of myoclonus of soft palate and pharynx and 8 cases of cleft palate were also studied. Their electrogroms were normal. This technique may be used not only to measure nerve conductivity directly but also to make correct diagnosis of neuromuscular disorders of these structures without serious complications.
 ...
PMID:[Clinical applications of pharyngeal electroneurography]. 203 32

gamma-Aminobutyric acid type A receptors (GABA(A)-Rs) mediate the bulk of rapid inhibitory synaptic transmission in the central nervous system. The beta3 subunit is an essential component of the GABA(A)-R in many brain regions, especially during development, and is implicated in several pathophysiologic processes. We examined mice harboring a beta3 gene inactivated by gene targeting. GABA(A)-R density is approximately halved in brain of beta3-deficient mice, and GABA(A)-R function is severely impaired. Most beta3-deficient mice die as neonates; some neonatal mortality, but not all, is accompanied by cleft palate. beta3-deficient mice that survive are runted until weaning but achieve normal body size by adulthood, although with reduced life span. These mice are fertile but mothers fail to nurture offspring. Brain morphology is grossly normal, but a number of behaviors are abnormal, consistent with the widespread location of the beta3 subunit. The mice are very hyperactive and hyperresponsive to human contact and other sensory stimuli, and often run continuously in tight circles. When held by the tail, they hold all paws in like a ball, which is frequently a sign of neurological impairment. They have difficulty swimming, walking on grids, and fall off platforms and rotarods, although they do not have a jerky gait. beta3-deficient mice display frequent myoclonus and occasional epileptic seizures, documented by electroencephalographic recording. Hyperactivity, lack of coordination, and seizures are consistent with reduced presynaptic inhibition in spinal cord and impaired inhibition in higher cortical centers and/or pleiotropic developmental defects.
 ...
PMID:Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. 910 19