Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Palatal myoclonus is a movement disorder consisting of rhythmic myoclonus of the soft palate, pharynx, larynx, and other muscles derived from the embryonal branchial arches. These movements are continuous and involuntary, and the patients are, in general, unaware of them. In the majority of patients, palatal myoclonus persists for life. In oculopalatal myoclonus, the eyes can be involved in the form of a nystagmus. Often a clicking noise in one or both ears is the initial symptom which can be heard by the examiner. A variety of etiologies have been linked to palatal myoclonus. The most common defined cause is a stroke. The variable delay between the proposed cause and the appearance of the disorder causes difficulties in determining the exact etiology. Pathologic findings show a transsynaptic hypertrophic degeneration of the inferior olivary nucleus which is due to a lesion of a specific, inhibitory, anatomic pathway. This somatotopic pathway leaves the contralateral dentate nucleus, passes through the superior cerebellar peduncle, and crosses the posterior commissure before joining the central tegmental tract and descending to the ipsilateral inferior olive. Treatment of palatal myoclonus is only occasionally effective. Some patients have responded to tryptophan, carbamazepine, and trihexyphenidyl. Surgical attempts have not been successful. - In the present paper the authors report on a case of an oculopalatal myoclonus following Leber's optic atrophy which involved the brain stem.
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PMID:[Etiology and clinical aspects of palatal myoclonus]. 224 51

Palatal myoclonus and acquired pendular nystagmus result from lesions in dentatorubroolivary pathways. We have investigated the effect of high doses of the anticholinergic drug trihexyphenidyl in four patients with palatal myoclonus and in four patients with acquired pendular nystagmus. The movements of each patient were videotaped three times: before administration of trihexyphenidyl, at the time of maximum or effective dosage, and after withdrawal from trihexyphenidyl. In five patients the movements were also electrographically recorded. A neurologist not familiar with the patients reviewed the tapes and rated the changes. In seven of eight patients, administration of trihexyphenidyl resulted in marked improvement of both movements and complaints by patients. This observation indicates that disturbance of cholinergic mechanisms plays an important role in the pathophysiology of these two movement disorders.
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PMID:Effectiveness of trihexyphenidyl against pendular nystagmus and palatal myoclonus: evidence of cholinergic dysfunction. 350 67

In 2010, we reported the successful clinical outcome related to a 20-month course of intravenous, cyclical ceftriaxone, in a patient with adult-onset Alexander's disease. We now provide evidence that the progression of the patient's signs/symptoms was halted and reversed with a 4-year-long extension of the trial.The patient's clinical signs/symptoms were evaluated before the start and every 6 months for 6 years. For the early 2 years, without therapy, and for the following 4 years, after intravenous ceftriaxone 2 g daily, for 3 weeks monthly during the initial 4 months, then for 15 days monthly.Gait ataxia and dysarthria were assessed clinically on a 0 to 4 scale. Palatal myoclonus and nystagmus/oscillopsia were monitored by videotape and a self-evaluation scale. The degree of disability, measured by a modified Rankin scale, and the brain MRI were periodically evaluated.Before ceftriaxone therapy, in a 2-year period, gait ataxia and dysarthria worsened from mild to marked, palatal myoclonus spread from the soft palate to lower facial muscles, and the patient complained of oscillopsia. After 4 years of ceftriaxone therapy, gait ataxia and dysarthria improved, from marked to mild at clinical rating scales. The palatal myoclonus was undetectable; the patient did not complained of oscillopsia and declared a progressively better quality of life. Ceftriaxone was safe.This case report provides Class IV evidence that intravenous cycles of ceftriaxone may halt and/or reverse the progression of neurodegeneration in patients with adult-onset Alexander's disease and may significantly improve their quality of life.
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PMID:Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up. 2343 May 49