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)

We report a patient with mitochondrial encephalomyopathy presenting parkinsonism, as well as her brother who had ataxia but not parkinsonism. Both patients had myopathy, deafness, and insulin-dependent diabetes mellitus. The proband was a 55-year-old woman, who has developed progressive difficulty in walking and slowness of movement since 53 years of age, becoming bed-ridden at 55. Neurological examination revealed mental impairment, a masked face, Myerson's sign, vertical supranuclear ophthalmoplegia, and severe sensorineural deafness, hypokinesia, rigidospasticity, and weakness of the extremities. But tremor and cerebellar ataxia were absent. Her 48-year-old brother gradually developed weakness of the lower extremities and drunken gait over a few years. On neurologic examination, vertical supranuclear ophthalmoplegia, moderate sensorineural deafness, and cerebellar ataxia were present, but parkinsonism was absent. Three other siblings were reported to have died in early childhood. Cranial MR imaging showed cerebral atrophy and mild atrophy of the cerebellar vermis as well as mild periventricular hyperintensities in T2-weighted images in both patients. However, no infarcts were seen. Laboratory investigations revealed slightly elevated lactate and pyruvate levels in the proband and elevation of pyruvate in her brother. A biopsy specimen obtained from the quadriceps muscle showed ragged-red fibers with modified Gomori trichrome staining, and a decrease of complex I+III and complex II+III activity in the proband. Mitochondrial DNA (mtDNA) analysis using the polymerase chain reaction and restriction enzyme Apa I showed a point mutation in the tRNA(Leu)(UUR)) gene (an A to G transition at nucleotide 3243) in both patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene]. 802 31

An apparently new cardioskeletal myopathy is reported in three unrelated families. Five infants were affected by rapidly progressive generalized muscle weakness, with onset shortly after birth, and dilated cardiomyopathy. All had generalized tremor (clonus) starting in the first week of life. The disease was lethal in all cases between 4 and 6 months. Muscle biopsy, performed in four of the five patients, showed a light microscopic pattern of small type I and normal-sized type II fibres. By electron microscopy small fibres were affected by myofibrillar disruption and swelling of organelles. Findings in blood and urine suggested a disturbance in energy metabolism but an extensive search for respiratory chain disorders and disorders of mitochondrial fatty acid oxidation in frozen muscle and cultured fibroblasts was negative. The findings support a new progressive autosomal recessive infantile cardioskeletal myopathy in which type I muscle fibres are preferentially affected.
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PMID:Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families. 967 82

A new progressive tremor disorder called Campus syndrome (CPS) was observed among the progeny of a normal boar of the Pietrain breed in Germany. Extensive backcross experiments indicate that CPS is inherited as an autosomal dominant trait, and the founder boar, Campus, is believed to be a gonadal mosaic. A linkage analysis of 57 animals mapped the CPS gene to a region on porcine chromosome 7 flanked by the markers SW1418 and SW352, which is homologous to a part of human chromosome (HSA) 14. Human dominant distal myopathy type 1 (MPD1) has been mapped to the homologous region of HSA14. As the myopathological findings in MDP1 show striking similarities to CPS, this porcine disorder may serve as an animal model for MPD1.
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PMID:Inheritance and genetic mapping of the Campus syndrome (CPS): a high-frequency tremor disease in pigs. 1048 36

A 59-year-old woman was hospitalized in hypoglycemic coma. Although hypoglycemia was promptly reversed, she was in a somnolent, restless state with tachycardia, tremor, profuse sweating, and high body temperature. Thyrotoxic storm was highly suspected and vigorous antithyroid regimens gradually brought her up to normal mental and cardiovascular states in several days. However, profound generalized myopathy necessitated the maintenance with a respirator. One month later, an episode of angina pectoris was followed by generalized convulsion, coma, and death in a few days. Neuroimaging study disclosed posterior leukoencephalopathy syndrome. This case is instructive in that hypoglycemic coma may masquerade the major symptomatology of thyrotoxic storm, and that profound myopathy and angiopathic or angiospastic processes of the brain and the heart may interfere with the outcome.
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PMID:Hypoglycemic coma masquerading thyrotoxic storm. 1056 48

Cerebellar symptoms at onset are unusual in HTLV-I/II-associated tropical spastic paraparesis (TSP). A prospective study of neurological disorders in Panama (1985-1990) revealed 13 patients with TSP and 3 with HTLV-I/II-associated spinocerebellar syndrome (HSCS) presenting at onset loss of balance, wide-based stance and gait, truncal instability, and mild leg ataxia (vermian cerebellar syndrome), with absent upper limb dysmetria but with postural tremor, downbeat nystagmus, and dysarthria. In 4-5 years, spinal cord manifestations of TSP developed, including spastic paraparesis, pyramidal signs, bladder and sphincter disturbances. Two patients were infected with HTLV-I and another one, a Guaymi Amerindian woman, with HTLV-II. Magnetic resonance imaging (MRI) demonstrated cerebellar atrophy involving predominantly the superior vermis. Mild axonal peripheral neuropathy in the lower limbs, dorsal column involvement and inflammatory myopathy were found by neurophysiology studies. There are 14 similar cases reported in Japan and Canada, but to our knowledge these are the first documented cases of HSCS in the tropics. A cerebellar syndrome constitutes another form of presentation of HTLV-I/II infection of the nervous system.
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PMID:Spinocerebellar syndrome in patients infected with human T-lymphotropic virus types I and II (HTLV-I/HTLV-II): report of 3 cases from Panama. 1087 59

Camptocormia is defined as a forced posture with a forward-bent trunk which appears during standing and sitting. It was first described in 1818 by Brodie. In the last 100 years, numerous cases were observed. A psychogenic origin was presumed in most cases. We describe four patients with typical symptoms of camptocormia who present with the clinical and electromyographical criteria of a segmental dystonia. A new classification of camptocormia is proposed including (1) the primary form, a segmental dystonia of the abdominal wall muscles and (2) secondary forms. Among other conditions (psychogenic disorder, neurosis, myopathy, myositis, Parkinson's disease, multiple-system atrophy, thoracolumbar kyphosis, paraneoplastic syndrome), camptocormia is to be considered in essential tremor. A combination of dystonia of the abdominal wall muscles and essential tremor seems possible.
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PMID:[Camptocormia--segmental dystonia. Proposal of a new definition for an old disease]. 1132 Aug 63

The purpose of this study is to verify the features of the power spectrum of postural tremors for neuromuscular disease patients and to classify the postural tremors. The subjects were 88 neuromuscular disease patients (30 Parkinson disease (PD), 25 cerebellar disease (CER), 7 multiple sclerosis (MS), 7 neuropathy (NEU), 10 motor neuron disease (MND), 9 myopathy (MYO)). The control subjects were 12 normal young persons and 10 normal aged persons. Postural tremor was detected by accelerator sensor. Postural tremor was recorded under the two postural conditions: The subjects maintained the index finger without or with a weight load of 50 g in a horizontal position while looking at a visual target in front of the tip of the index finger. The power spectrum was calculated by an auto-regressive model (AR model). The peak frequency and the peak power were evaluated under the two conditions. Two frequency components of 8-12 Hz and 20-25 Hz appeared in the postural tremor of both normal subjects and neuromuscular disease patients. The difference of the postural tremor between the subjects mainly appeared in the 8-12 Hz component during the postural tremor with a weight load. MYO patients belonged to one group (called as group P1) due to lower peak power, CER patients belonged to one group (called as group P2) due to higher peak power, and PD and MS patients belonged to one group (called as group P3) due to lower peak frequency and higher peak power. NER and MND patients belonged to one group (called as group N which meant normal group). These results suggested that the peak frequency and the peak power of the 8-12 Hz component were changed by the conditions of both spinal reflex system and central nervous system. An oscillator within the central nervous system produced the underlying frequency of 8-12 Hz component, while the amplitude of 8-12 Hz component was governed by both spinal reflex system and central nervous system. In conclusion, the classification of postural tremor for neuromuscular disease patients was a useful index to elucidate the mechanism of tremor oscillation and to assist in clinical diagnosis of neuromuscular disease.
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PMID:Evaluation of postural tremor of finger for neuromuscular diseases and its application to the classification. 1205 36

A hereditary, non-inflammatory myopathy occurring in young great Danes with distinctive histological features in muscle biopsy specimens is reviewed. Onset of clinical signs is usually before one year of age and both sexes are affected. Clinical signs are characterised by exercise intolerance, muscle wasting, and an exercise-induced tremor. Although most affected dogs have a severe form of the disease, occasional dogs may have a less pronounced form and survive into adulthood with an acceptable quality of life. Litters containing affected puppies are born to clinically unaffected parents, and an autosomal recessive pattern of inheritance is likely. All recorded cases have had fawn or brindle coat coloration. Elevated serum creatinine kinase concentrations and spontaneous electrical activity in skeletal muscles are frequently found. While originally reported (Targett and others 1994) as a central core myopathy in this breed, the histochemical characteristics of the distinct cytoarchitectural structures differ from those of the well-characterised central core myopathy in human beings. In fact, these structures differ from any known myopathy in human beings and likely represents a unique non-inflammatory myopathy affecting dogs. Until this myopathy is characterised further, the name inherited myopathy in great Danes is suggested.
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PMID:Inherited myopathy of great Danes. 1667 19

A patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Histopathological examination of a biopsied muscle specimen yielded findings compatible with those of DMRV, which is characterized by the presence of rimmed vacuoles without inflammatory cell infiltration in muscle fibers. The finding of normal cardiac meta-iodobenzylguanide uptake makes the possibility of incidental Parkinson's disease in this patient unlikely. These observations raise the possibility that atypical Parkinsonism is a rare complication of DMRV associated with GNE mutation.
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PMID:Atypical Parkinsonism in distal myopathy with rimmed vacuoles. 1838 35

The charts of 175 renal transplant recipients were retrospectively reviewed. The mean duration of follow up since the transplantation was 4.17 +/- 1.66 years. Apart from cyclosporin induced tremor, which occurred almost in all patients, 22 patients (12.5%) had neurological disorders during their follow up (mean annual incidence of 3%). Eight patients had epileptic seizures, seven had strokes, four had neurological infections, two developed a pseudotumor cerebri syndrome, two neuropathies, one myopathy and one conus medullaris infarction. This study demonstrates that neurological disorders are not uncommon in renal transplant recipients and that their mechanisms are variable and may be related to the underlying diseases such as hypertension and diabetes; to the operation itself; to the side effects of immunosuppression agents or rarely, they can accompany graft rejection.
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PMID:Neurological disorders in renal transplant recipients. 1840 14


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