Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autopsy cases of two brothers with bulbo-spinal muscular atrophy associated with gynecomastia, testicular atrophy and sensory neuropathy are reported. The disease started with finger tremor, proximal muscle weakness and facial muscle twitching at the second and fourth decades, accompanied by bulbar signs and glove-stocking type sensory disturbance. Systemic neurogenic patterns and diminished sensory nerve action potential amplitudes were recorded by electrophysiological studies. A marked loss of myelinated fibers was noticed upon sural nerve biopsy. Gonadal hormone values were normal, except for elevated urinary estrogen. Postmortem examinations revealed a remarkable degeneration of the facial and hypoglossal nuclei, and the spinal cord motoneurons. The skeletal muscles and the tongue showed neurogenic muscular atrophy with fatty replacement. Testicular atrophy was prominent showing hyalinized seminiferous tubuli with nodular and diffuse Leydig cell hyperplasia, containing estrogen immunoreactive substance. These clinical and histological features seemed to be highly compatible with those of Kennedy-Alter-Sung type bulbo-spinal muscular atrophy. The involvement of sensory peripheral nerves, however, was a distinct feature of this family.
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PMID:Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers. 321 30

A case-report of poisoning by ingestion of a sea hare, which is thought to be the first report of human poisoning, is presented. The clinical signs were mainly neurological with tremor, psychomotor over-activity, ataxia and muscle twitching being predominant. It is suggested that organic bromine compounds are responsible for the effects.
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PMID:Human poisoning by ingestion of a sea hare (Dolabella auricularia). 324 54

We observed prospectively 20 consecutive patients with severe hypomagnesemia (serum Mg 0.01 to 1.2 mg/dl [0.01 to 0.5 mmol/L], mean 0.8 mg/dl [0.33 mmol/L]) before and after correction with parenteral magnesium sulfate. Only three patients, all with hypocalcemia, had tremor and muscle twitching and none showed tetany, a positive Trousseau's test, arrhythmias, or ECG abnormalities. Moreover, review of the literature on hypomagnesemia did not justify attributing these clinical symptoms to hypomagnesemia. In a follow-up study of 111 consecutive serum samples from hypocalcemic patients, 36 (32%) indicated hypomagnesemia (serum Mg no greater than 1.5 mg/dl [0.6 mmol/L]); however, hypomagnesemia had been unsuspected in all but two patients. We conclude that hypomagnesemia rarely shows specific signs or symptoms; its diagnosis depends on a high index of suspicion in patients with hypokalemia, especially after its correction, and in patients with unexplained hypocalcemia.
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PMID:Clinical manifestations of hypomagnesemia. 376 7

1. In unanaesthetized rabbits 5-hydroxytryptophan (5-HTP) and 5-hydroxytryptamine (5-HT) were injected into the cisterna magna or into the cannulated left lateral cerebral ventricle while rectal temperature was recorded.2. 5-HTP injected intracisternally in a dose of 1.5-3 mg produced a fall in temperature often followed by a rise beyond the pre-injection level. With 6 mg the main effect was a rise in temperature. The intraventricular injection of 1-2 mg 5-HTP usually produced a fall followed by a rise.3. 5-HT injected intracisternally in a dose of 0.2 mg produced a fall in temperature similar to that produced with this dose injected intraventricularly. Following an intracisternal injection of 1-4 mg 5-HT there was either a fall, or a fall followed by a rise, but in a few experiments the effect consisted mainly of a rise in temperature.4. Additional effects regularly observed with these injections were tachypnoea, ear twitching, rapid movements of the vibrissae, shaking of the head, wiping and scratching movements, ataxia, nodding and sideways movements of the head and long-lasting catalepsy.5. The sites where 5-HTP and 5-HT act when producing the temperature responses and the various behavioural effects are discussed.
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PMID:Temperature responses and other effects of 5-hydroxytryptophan and 5-hydroxytryptamine when acting from the liquor space in unanaesthetized rabbits. 530 31

The symptoms include, by ascending order of severity: nightmares and insomnia, nausea and vomiting, muscular weakness or tremor, postural hypotension, hyperthermia, muscle twitching, convulsions, confusional state or psychosis. Prominent features are the late onset of these symptoms, several days after treatment has been discontinued, and the sometimes difficult diagnosis, since patients are usually unaware of their dependence on these drugs. Reinstituting benzodiazepine treatment, then withdrawing it progressively are the best curative measures. Prevention is easy if treatment is gradually rather than abruptly withdrawn in all patients who receive the compound in high dosage for more than one month.
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PMID:[Benzodiazepine physical dependence. 6 cases (author's transl)]. 610 22

Twenty-nine patients with nonseminomatous germ cell tumors of the testis have been followed for a median of 1.9 years (range 0.3-3.6) following completion of cisplatin-containing combination chemotherapy. Twenty-two of the 29 patients (76%) became hypomagnesemic during chemotherapy and, of these, 11 (50%) have remained persistently hypomagnesemic for as long as 3 years following discontinuation of cisplatin treatment. In the remaining patients, serum Mg levels returned to normal a median of 0.6 years (range, 0.2-2.1) after completion of chemotherapy. In eight of nine persistently hypomagnesemic patients studied, urinary Mg excretion was inappropriately elevated. Symptoms attributable to hypomagnesemia were rarely reported, although muscle cramps, twitching, or mild tremor were noted by the most severely hypomagnesemic patients. Continued followup of these patients is required to determine the effects of chronic hypomagnesemia in man.
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PMID:Persistent hypomagnesemia following cisplatin chemotherapy for testicular cancer. 688 61

Mouse spermatozoa recovered from the caput, corpus, or cauda epididymidis were examined for their ability to bind the vitro to zonae pellucidae. Since spermatozoa from the caput epididymidis do not display progressive motility as compared with more mature spermatozoa, direct comparison of the different sperm populations may not measure zona binding ability validly. To equalize the motile properties of the spermatozoa, a method was developed to immobilize vigorously motile corpus and cauda spermatozoa. Reversible immobilization was achieved by incubation in 25 microM La3+ which resulted in a twitching, nonprogressive type of motility. La3+ incubation did not appear to affect the spermatozoa adversely, since vigorous motility (equivalent to the controls) of corpus and cauda sperm was displayed upon subsequent incubation in standard La3+-free culture medium. Moreover, cauda spermatozoa preincubated for 90 min in La3+ displayed levels of fertilization in vitro equivalent to their control counterparts. Using this La3+-immobilization technique, the zona binding ability of the different sperm population could be assayed. Gamete collision was insured under these conditions by shaking the gamete-containing dishes at 100 cycles/min. Regardless of the extent of sperm motility, a similar zona-binding pattern emerged: cauda sperm bound in high numbers, corpus sperm bound at some intermediate level (an average of 24% of cauda binding level), and caput sperm bound rarely (2% of cauda binding level). Thus it appears that, for mouse spermatozoa, the onset of fertility during epididymal transit parallels the ability to bind to zonae pellucidae. Unlike the interaction between spermatozoa and zonae, La3+ was unable to support sperm binding in to egg plasma membrane, supporting the view that mouse sperm may have different sites for interaction with the zonae pellucida and the egg plasma membrane.
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PMID:Development of the ability to bind to zonae pellucidae during epididymal maturation: reversible immobilization of mouse-spermatozoa by lanthanum. 720 Aug 7

A 43-year-old male was referred by a veterinarian who evaluated his dog for a seizure and suspected a toxic lead exposure for both. He refurbished houses, removing old paint, and complained of decreased cognition, fatigue, and muscle cramps. He had a depressed affect, postural tremor, right arm weakness with partial denervation on EMG, and borderline-low sensory nerve action potential (SNAP) amplitudes. A mild anemia and elevated serum and urine lead levels supported a diagnosis of lead neuropathy. Chelation therapy increased urine lead excretion without symptomatic improvement. His brother worked part-time with him and developed similar findings, but also had difficulty chewing, dysphagia, perioral twitching, gynecomastia, and multifocal denervation of extremity and facial muscles. His lead levels were not elevated, but an androgen receptor mutation identified on the X chromosome for both brothers confirmed the diagnosis of X-linked bulbospinomuscular atrophy (Kennedy's disease).
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PMID:X-linked bulbospinomuscular atrophy (Kennedy's disease) masquerading as lead neuropathy. 817 Apr 88

We studied a large pedigree with dominant spinocerebellar ataxia, genetically and clinically. At now, 27 members over 5 generations have been affected. Linkage study for the disease locus to D6S89 in a total of 44 individuals showed maximum lod scores of 3.99 at theta = 0.000. This result indicates that the disease locus of this pedigree locates near D6S89 on chromosome 6p (SCA 1). We studied 17 patients clinically. Mean age at onset was 37.7 +/- 8.6, and mean duration after onset was 11.3 +/- 6.8 years. Their clinical features were characterized by progressive ataxia, pyramidal involvement with hyperreflexia or spasticity, and mild posterior column involvement. Mild gaze nystagmus at early stage became unclear with the progress of illness. The frequent signs in the advanced stage were diffuse amyotropy, twitching of face or tongue, bulbar palsy, slow saccade, external ophthalmoparesis, mydriasis, coarse postural tremor, and dementia with emotional disturbance. There are so much clinical similarities between our pedigree and other SCA 1 pedigrees in the literature. Generally, SCA 1 shows hyperreflexia, spasticity, and terminal slow saccade. On the other hand, non-SCA 1 type OPCA is characterized by progressive hyporeflexia, slow eye movement from early stage, and frequent choreoathetosis. Gaze nystagmus, external ophthalmoparesis, amyotrophy, and spasticity are common in both SCA 1 and Machado-Joseph disease (MJD). However, they are more frequent in MJD than SCA 1. Moreover, extrapyramidal signs, such as dystonia, are rare is SCA 1. Based on these difference, SCA 1 could be clinically differentiated from other similar hereditary ataxias.
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PMID:[Spinocerebellar ataxia 1--clinical study of 17 patients in a large pedigree]. 836 44

We report the case of a 59-year-old man with primary intestinal T-cell non-Hodgkin's lymphoma who developed abnormal facial twitching synchronous with small palatal movements induced by attempts at speaking or swallowing. At rest, the electromyogram (EMG) showed no spontaneous muscular activity. Phonation triggered trains of synchronous, rhythmic EMG bursts at a frequency of 3-4 Hz lasting 10-20 s, with an average burst of 150 ms, which simultaneously involved palatal, facial, and neck muscles bilaterally with left-sided predominance. An enhanced blink reflex recovery curve was observed after stimulation of either side. Backaveraging electroencephalographic study revealed no activity that was time locked with the jerks. Axial T2-weighted magnetic resonance imaging showed an increased signal intensity and bilateral enlargement of the inferior olives. No antineuronal-specific antibodies were found in the blood or in the cerebrospinal fluid. All of these clinical findings were consistent with a symptomatic palatal tremor (PT). Because it was triggered by activation of cranial muscles, we termed this movement disorder action PT. To our knowledge, this is the first report of symptomatic PT displaying these features.
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PMID:Action palatal tremor in a patient with primary intestinal lymphoma. 938 69


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