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)

Two siblings with classic transferase deficiency galactosemia that was detected at birth have been treated with lactose restriction since the neonatal period. Both patients developed a unique and progressive neurologic syndrome of mental retardation, tremor, and ataxia. Careful review of the family history and medical records, the absence of metabolic disturbances other than those related to galactosemia, and the aggregate physical findings and neurodiagnostic studies ruled out other neurologic disorders in these siblings. It is therefore proposed that these patients represent a subgroup of transferase-deficient galactosemic patients, who develop characteristic neurologic sequelae with conventional dietary management. The existence of this subgroup should be considered in evaluations of therapeutic responses in cohorts of patients with galactosemia. Further, galactosemia should be included in the differential diagnosis of tremor and ataxia in the setting of mental retardation.
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PMID:Curious neurologic sequelae in galactosemia. 670 Oct 54

This is the first reported case of dystonia with a partial deletion of the long arm (q) of chromosome 18. Neurologic findings in the 18q- syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36-year-old woman with an 18q terminal deletion [karyotype 46,XX,del(18)(q22.2)] had hypothyroidism, diabetes mellitus, borderline intelligence, short stature, short neck, sensorineural hearing loss, and sensorimotor axonal neuropathy. Parents' karyotypes were normal. She had had incoordination and writing difficulty since childhood. Posturing and tremor of the head began at age 16, followed by arm tremors. She had jaw deviation and tremor, neck tremor with retrocollis, involuntary pronation of the right arm, coarse postural and severe action tremor, and tight pen grip with dystonic wrist extension on writing. The 18q- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated features such as short stature and endocrinopathies.
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PMID:Dystonia in a patient with deletion of 18q. 756 32

Galactosemia is an autosomal recessive, inborn error of galactose metabolism due to the deficiency of galactose-I-phosphate uridyl transferase. Late-onset neurologic complications may develop despite Galactose restriction. Three adult patients are reported. They suffered from mental retardation. Two of them developed progressive cerebellar ataxia, spastic gait and postural tremor. The magnetic resonance imaging revealed moderate cortical atrophy, multifocal areas of increased signal in the periventricular white matter on T2-weighted images, and in one case, abnormal myelination. The Fluoro-2-deoxy-D-glucose position emission tomography showed different patterns of regional hypometabolism.
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PMID:[Late neurologic complications of galactosemia: study of 3 cases]. 767 42

Child abuse by whiplash-shaking can lead to severe injury in infants, including cerebral damage, neurological defects, blindness, and mental retardation. These findings are seen often without external evidence of head injury. Nurses should suspect shaken baby syndrome (SBS) in infants less than 1 year of age who present with apnea, seizures, lethargy or drowsiness, bradycardia, respiratory difficulty, coma, or death. Subdural and retinal hemorrhages accompanied by the absence of external signs of trauma are hallmarks of the syndrome.
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PMID:Shaken baby syndrome: a nursing perspective. 771 67

The arm tremor of adults diagnosed as having mental retardation and/or tardive dyskinesia was examined through an analysis of the acceleration properties of several arm postures. The degree of arm acceleration was increased in all groups compared to a control group without mental retardation. The tardive dyskinesia and/or mentally retarded groups also showed a shift to a lower modal frequency of physiological tremor. Results showed that both time domain and frequency properties of the tremor acceleration signal are necessary to distinguish between groups. The neuroleptic medication appears to engender a dual and opposing influence on performance in the arm tremor task for the mentally retarded group. The medication reduces behavioral variability as indexed by analyses of arm acceleration over time (time domain) but lowers the modal frequency of physiological tremor.
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PMID:Arm tremor, tardive dyskinesia, and mental retardation. 810 99

Infections were considered to be etiological factors in 29 patients (10%) with infantile spasms; congenital CMV (n = 5), congenital or acquired CMV (n = 1), acquired CMV (n = 5), congenital rubella (n = 2), herpes simplex virus (n = 5), enterovirus (n = 1), adenovirus (n = 1), viral encephalitis of unknown agent (n = 3), meningococcus (n = 4), pneumococcus (n = 1) and pertussis (n = 1). The children with congenital infections had long-lasting tremor and convulsions from birth. Early EEG pattern was characteristic for children with herpes encephalitis but not for other patients. Infantile spasms appeared only some weeks after viral encephalitis. One patient with enterovirus and another with probable adenovirus infection had necrotic changes in their brain CT resembling those of herpes encephalitis. The response to ACTH was poor (38%) compared to the whole series (60%). The long-term outcome was also poor compared to the whole series; mental retardation in 90%, convulsions in 62%, abnormal EEG in 89%. Four children died during the follow-up of 7 years. Autopsy showed disseminated CMV infection in one patient and chronic CMV infection in another. The outcome of children with infectious etiology appears to be particularly poor. Thus, the prevention and specific diagnosis and treatment are important. Steroid therapy should be avoided in children with a history of herpes virus encephalitis (CMV, herpes simplex) in the past.
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PMID:Infantile spasms: infectious disorders. 830 17

Charcot-Marie-Tooth (CMT) disease is the commonest inherited peripheral neuropathy. The clinical study of 45 patients with CMT is presented. They were derived from Antonio Pedro Hospital of Universidade Federal Fluminense in Niteroi, RJ, Brazil. Such patients could be divided by the motor conduction velocity in two types: a demyelinating form or type I (11 cases) and an axonal form or type II (34 cases). The disease was inherited as an autosomal dominant trait in 23 patients and as an autosomal recessive trait in 7 cases. In 15 patients the disorder was sporadic. The age of onset was in most of our cases before the 20 years. All of them had distal weakness in lower limbs. 38.2% had also distal weakness in upper limbs. 80% had distal wasting of the lower limbs and 50% had distal wasting of upper limbs. The tendon reflexes were absent in 64% in lower limbs and in 28% in upper limbs. The sensitive impairment in the distal regions of the extremities was mild in most patients. We found enlargement of peripheral nerves in 7 patients of type I. Pes cavus was present in 21 cases and scoliosis in 7. We found postural tremor of hands in 6 patients. In 9 cases there were rare features as mental retardation, trigeminal nevralgia, optic atrophy, deafness and calf enlargement. In most of our cases the clinical course was very slow progressive. A greater severity was seen in our sporadic cases.
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PMID:[Charcot-Marie-Tooth disease. Clinical study in 45 patients]. 858 9

A 38 year old patient with megalencephaly, mental retardation, and lifelong tremor developed levodopa responsive parkinsonism in his mid-30s followed by the appearance of dyskinesiae, motor fluctuations, hallucinations, and dementia. Brain MRI showed, as well as other changes, iron deposition in the globus pallidus, substantia nigra, and the pulvinar of the thalamus. Postmortem examination disclosed depigmentation of the substantia nigra pars compacta with neuronal loss, gliosis, and Lewy body formation. Axonal dystrophic spheroids, neuronal loss, calcification, and iron deposition were found in the substantia nigra pars reticulata. Less severe changes without neuronal loss were seen in the globus pallidus. This combination of megalencephaly with neuroaxonal changes predominantly in the pars reticulata and Lewy body degeneration isolated to the substantia nigra pars compacta has not been previously reported.
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PMID:Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease. 893 52

A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family. Muscle biopsy samples of advanced cases showed ragged-red fibers, focal cytochrome c oxidase deficiency, and multiple mtDNA deletions by Southern blot analysis. An autosomal dominant mode of inheritance was evident with anticipation in successive generations. Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence for anticipation in a family with autosomal dominant progressive external ophthalmoplegia. We hypothesize that the nuclear gene causing this enigmatic disorder may be directly influenced by an expansion of an unstable DNA sequence and that the resulting phenotype is caused by a concerted action with multiple deletions of mtDNA.
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PMID:Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. 894 Dec 70

Stereotypies are patterned, repetitive, purposeless movements that are performed the same way each time. They are commonly seen in individuals with autism, schizophrenia, or mental retardation, and also occur as a feature of tardive dyskinesia and as movements in those with akathisia. We studied 10 children who had stereotypies but were not autistic or mentally retarded. Although most had an uneventful delivery, seven had mild to moderately delayed developmental milestones. Five had hyperactive behavior or attention-deficit problems. All appeared to be of normal intelligence. The median age of onset of stereotypies was 12 months. The stereotypies including arm flapping, arm and hand posturing, finger wiggling, body rocking, leg shaking, facial grimacing, involuntary noises, neck extension, and eye blinking. Of the 10 children, only two stopped having stereotypies eventually without medications.
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PMID:The characterization and outcome of stereotypical movements in nonautistic children. 899 53


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