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)

The clinical pattern and etiology of 544 cases of cerebral palsy were studied retrospectively. Of these cases, 354 (65.1%) were males. Four hundred and ninety seven (91.4%) cases were of spastic type. Hypotonic, ataxic and athetoid cerebral palsy were observed in 5.5, 1.5 and 1.3% cases, respectively. There was one case each of tremor and mixed type. In the spastic group, quadriplegia comprised the maximum number of cases (34.9%). Hemiplegia (28.7%) and diplegia (21.9) were also common. Mental retardation was found in 47.2%, while speech impairment was observed in 37% cases. Other handicaps included visual (9%), seizures (8.8%), and auditory handicap (2.9%). The etiological factors were prenatal in 7.7% cases, natal in 43.8% cases and postnatal in 26.1% cases. More than one etiological factor was observed in 14.5% cases, while in 7.9% cases, no apparent cause could be found.
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PMID:Cerebral palsy. 807 18

Startle disease is an autosomal dominant disorder with two phenotypic expressions. In the major form, there is hypertonia in infancy, and later an insecure gait. The patients have falling attacks without unconsciousness and in these, they are often injured or suffer concussions. Episodes of shaking of the limbs lasting for several minutes and resembling generalized clonus or repetitive myoclonus occur. These are most often nocturnal and are also unaccompanied by loss of consciousness. the patients are hyperreflexic and show an increased incidence of associated neurological and electroencephalographic abnormalities. The minor form of startle disease is only manifested by excessive startle and this is inconstant. In infancy it is brought out by febrile illness and in adult life by emotional stress. Gastaut and Villeneuve postulated the existence of a sporadic form of hyperekplexia different from the disorder described by Suhren et al. Review of their report and comparison with the cases of Suhren et al, and our own patients leads us to believe that the sporadic and familial forms of startle disease are the same. The disorder is rare, probably misdiagnosed initially as spastic quadriplegia, and later as epilepsy. Clonazepam appears to be the treatment of choice and its effect is sustained.
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PMID:Startle disease or hyperekplexia: further delineation of the syndrome. 677 25

A 52-year-old woman developed severe hyponatremia following treatment for hypertension with chlorthalidone. Rapid correction of hyponatremia resulted in coma, quadriplegia and hypopnea compatible with central pontine myelinolysis. She recovered with residual facial hypomimia, bradykinesia, cogwheel rigidity and coarse resting tremor, responding to dopaminergic treatment. Her symptoms and signs, which are quite similar to idiopathic Parkinson's disease, are still responsive to treatment 7 years after onset.
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PMID:Extrapyramidal syndrome responsive to dopaminergic treatment following recovery from central pontine myelinolysis. 844 Feb 86

Techniques for augmenting, when necessary, the normal mucociliary and cough clearance mechanisms of the lungs are not new, but, in more recent years, techniques have been developed which are effective, comfortable and can be used independent of an assistant in the majority of adolescents and adults. Postural drainage with chest clapping and chest shaking has, in most parts of the world, been replaced by the more effective techniques of the active cycle of breathing, autogenic drainage, R-C Cornet, Flutter, positive expiratory pressure mask, high-frequency chest wall oscillation and intrapulmonary percussive ventilation. Glossopharyngeal breathing is being considered again and is often a useful technique for increasing the effectiveness of cough in patients with tetraplegia or neuromuscular disorders. The evidence in support of these techniques is variable, and the literature is confusing and conflicting. There may or may not be significant differences among the techniques in the short or long term. Many of the regimens now include the forced expiratory manoeuvre of a "huff" and this has probably increased the effectiveness of airway clearance. If objective differences are small, individual preferences and cultural influences may be significant in increasing adherence to treatment and in the selection of an appropriate regimen or regimens for an individual patient.
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PMID:Physiotherapy for airway clearance in adults. 1062 75

Thyrotoxic hypokalemic periodic paralysis (THPP) is a medical emergency characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis that resolve with the treatment of hyperthyroidism. Attacks are transient, self-limited, associated with hypokalemia and resemble those of familial hypokalemic periodic paralysis (FHPP), an autosomal dominant neurological channelopathy. This study reviews the clinical features and genetic findings of THPP in 25 Brazilian patients. Most patients had weight loss, taquicardia, goiter, tremor, and ophthalmopathy. Most often attacks arose during the night and recovered spontaneously but some patients evolved to total quadriplegia, and few experienced cardiac arrhythmias. All patients had suppressed TSH and elevated T4 and most had positive anti-thyroid antibodies, indicating autoimmunity thyrotoxic etiology. Potassium was low in all patients during the crisis. Prophylactic potassium therapy has not been shown to prevent attacks; however it was useful for curbing the paralysis during the crisis. We identified the mutation R83H in the KCNE3 gene in one sporadic case, and M58V in the KCNE4 gene in one case with family history. Furthermore, we identified other genetic polymorphisms in the CACNA1S, SCN4A, KCNE1, KCNE2, KCNE1L, KCNJ2, KCNJ8 e KCNJ11 genes. We conclude that THPP is the most common treatable cause of acquired periodic paralysis; therefore, it must be included in the differential diagnosis of acute muscle weakness.
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PMID:[Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients]. 1561 33

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on the long arm of the X chromosome in band Xq22. This mutation results in abnormal expression or production of PLP. We here present a Korean boy with spastic quadriplegia, horizontal nystagmus, saccadic gaze, intentional tremor, head titubation, ataxia, and developmental delay. The brain magnetic resonance imaging (MRI) showed abnormally high signal intensities in the white matter tract, including a subcortical U fiber on the T2-weighted and fluid attenuated inversion recovery (FLAIR) image. The chromosomal analysis was normal; however, duplication of the PLP1 gene in chromosome Xq22 was detected when the multiplex ligation-dependent probe amplification (MLPA) method was used. We also investigated the pedigree for a genetic study related to PMD. This case suggests that the duplication mutation of the PLP1 gene in patients with PMD results in a mild clinical form of the disorder that mimics the spastic quadriplegia of cerebral palsy.
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PMID:Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea. 1843 21

Central pontine myelinolysis covers very different clinical aspects, ranging from discrete tremor to quadriplegia. Rapid correction of hyponatraemia is a well-known risk factor, particularly in chronic alcohol abusers. We describe the case of a 46-year-old chronic alcoholic, suffering from denutrition. He developed a quadriplegia and a facial diplegia two weeks after a slow correction of a chronic hyponatraemia associated with hypokalaemia. Central pontine myelinolysis was formally diagnosed by MRI findings. In our case, the correction of hyponatraemia is not the only causal agent of this syndrome; hypokalaemia and denutrition seem to be predisposing factors too. For these reasons, glial cells are more vulnerable to osmotic variations. Despite of severe initial symptoms, the evolution was favourable with a quasi complete recovery.
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PMID:[Severe hyponatraemia and central pontine myelinolysis: be careful with other factors!]. 1909 47

This was a single-centre, prospective study to assess the frequency of neurological complications and their impact on prolonged hospitalization in 137 liver transplant patients presenting between September 1997 and June 2010. Neurological complications were seen in 22 (16%) patients during their postoperative stay in the intensive care unit. Complications included new-onset, recurrent headache (five patients), generalized seizures (four patients), dysarthria (two patients), delirium with agitation (three patients), persistent flapping tremor (two patients), alteration in level of consciousness (three patients), central pontine myelinolysis (one patient), myopathy (one patient) and visual hallucinations (one patient). Seizures were associated with immunosuppressive drug toxicity (tacrolimus). Myopathy presenting as quadriplegia was diagnosed by muscle biopsy. The patient with central pontine myelinolysis lived in a persistent vegetative state for 2 years and died of pneumonia. In conclusion, neurological complications are frequently encountered after liver transplantation, and are an important cause of severe morbidity and prolonged intensive care unit and hospital stay.
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PMID:Neurological complications after liver transplantation. 2198 51