Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patient 1 was a 39-year-old man; patient 2, a 42-year-old woman; patient 3, a 78-year-old man. Leading symptoms were chronic asymmetrical weakness in all three cases, which started in a distal portion of the upper extremities. Muscle atrophy was often less prominent than would be expected from the power of the muscle. Fasciculations were observed in two patients and the initial symptom of patient 2 was painful cramp of the right thumb. Patient 1 initially had mild transient dysesthesia of the right fingers. The other two patients had no sensory symptoms or signs. General laboratory tests revealed no particular abnormalities except that patient 3 had mild diabetes mellitus, although the type of neuropathy in patient 3 was quite different from diabetic neuropathy. Total protein concentrations in the cerebrospinal fluid were 34, 32 and 43 mg/dl in three patients, respectively (normally, less than 40 mg/dl). Motor nerve conduction studies revealed conduction block in more than one nerve in every case. Conduction velocities were generally normal in those segments of nerve where conduction block was not detected. Serum anti-ganglioside antibodies were investigated by Enzyme-linked immunosorbent assay (ELISA). Glycolipids used as the antigen include GM1, GM2, GM3, GD1b, GD3, GT1b, GQ1b, GA1 and galactocerebroside. Strong IgM antibody activity against GM1, GD1b and GA1 was noted in patient 1. Weaker but significant IgM antibody activities against GM1 and GA1 were detected in patient 2 and 3. Thin-layer chromatography immunostaining also confirmed these results. Muscle biopsy in patient 1 revealed a lot of target fibers and profuse polyglucosan bodies in the axons of intramuscular nerves.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Motor-dominant neuropathy with multifocal conduction block]. 208 27

A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight families. Muscle weakness in the limbs was mainly proximal and developed in the third to fifth decades of life, often preceded by muscle cramps on exertion and tremor of the hands. Weakness and fasciculation of the facial muscles and tongue were prominent. All the patients had gynaecomastia and some were infertile. Two had diabetes mellitus. Motor nerve conduction studies were normal but most patients had small or unrecordable sensory action potentials in the absence of clinical sensory loss. Plasma creatine kinase levels were considerably elevated and muscle biopsies showed neurogenic atrophy together with secondary myopathic changes. The importance of recognising this distinctive disorder in single cases (six of the present series) is emphasised.
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PMID:X-linked recessive bulbospinal neuronopathy: a report of ten cases. 689 Sep 89

An elecrodiagnostic analysis was conducted on 5 dogs with spontaneously occurring diabetes mellitus that were maintained for a long-term study on canine diabetes. Abnormal electromyographic findings consisted of fibrillation potentials, positive sharp waves, and fasciculation potentials in the limb muscles of most dogs, The mean values (+/- SD) for motor nerve conduction velocities (NCV) of the ulnar and sciatic-tibial nerves were 57.6 +/- 11.2 and 52.1 +/- 7.4 m/s, respectively, for the 5 diabetic dogs. Values for motor NCV for clinically normal dogs in this laboratory were 56.0 +/- 7.6 and 66.6 +/- 7.1 m/s, respectively. The mean value (+/- SD) for the sensory NCV of the lateral superficial radial nerve in the diabetic dogs determined 4 months later was 45.2 +/- 7.9 m/s, compared with 53.1 +/- 6.0 m/s for normal dogs. Analysis of the evoked potentials recorded from the interosseous muscle after sciatic-tibial nerve stimulation revealed decreased amplitudes. Potentials evoked by stimulation at the hip, as compared with potentials evoked by stimulation at the hock, had temporal dispersion and diminished amplitude in the majority of the diabetic dogs.
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PMID:Electrodiagnostic analysis of peripheral neuropathy in dogs with diabetes mellitus. 734 May 76

We describe clinical, biochemical, and molecular studies on a Taiwanese family with X-linked recessive bulbospinal neuronopathy. There were three probands and five female carriers among the 23 members examined. The clinical manifestations included progressive muscle weakness, diffuse fasciculation, postural tremor, muscle cramps, dysarthria, dysphagia, diabetes, and gynecomastia. Phenotypic expression varied among the affected subjects. Two carriers also had postural tremor and perioral fasciculation. Endocrine tests were normal except for a mild increase in serum testosterone and/or growth hormone in one patient and one carrier. Type IV hyperlipoproteinemia was observed in two patients, one carrier, and one healthy offspring. Molecular genetic studies confirmed elongation of the CAG triplet repeat in exon 1 of the gene for the androgen receptor. Sequence analysis showed that there were 42 to 43 CAG repeats in the three probands and 42 to 45 in the five carriers. The mutant allele had a tendency to increase by one or two repeats from one generation to the next. The length of CAG repeats at which the mutant allele became unstable was shorter in our family than in previous reports. The normal allele was also unstable and had a tendency to shrink by one of five repeats during transmission. These findings suggest that the number of CAG triplet repeats is variable in both the mutant and normal alleles.
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PMID:X-linked recessive bulbospinal neuronopathy: clinical and molecular studies in a Taiwanese family. 961 61

Amyotrophic lateral sclerosis (ALS), parkinsonism and/or dementia are highly prevalent among the Chamorro population of Guam. The incidence of Guamanian ALS has markedly declined in recent years, but these incidence figures may reflect underascertainment of subclinical disease. Guamanian Chamorro patients have not been systematically studied using modern clinical neurophysiological techniques. Electromyography (EMG: needle exam and nerve conduction studies) was used to study 29 patients with the major subtypes of Guamanian neurodegenerative disease, as well as 11 neurologically normal Guamanian Chamorro subjects. Central conduction was assessed by somatosensory evoked potentials (SEP's) in 16 patients. EMG evidence of peripheral neuropathy, (often subclinical) was found in 45% of Guamanian patients but no Chamorro control subjects. Diabetes mellitus, which is highly prevalent in this population, was present in some, but not all of these cases. Clinically unsuspected motor neuron disease was identified by EMG in only one of the 23 Guamanian patients with parkinsonism and/or dementia and in none of the 11 Chamorro control subjects. Two of seven patients with the clinical phenotype of Guamanian ALS had a more benign EMG pattern on the needle electrode exam with absence of fibrillation and fasciculation potentials. Three of 16 patients (all with parkinsonism and dementia) had mildly abnormal tibial SEP's. No patient had EMG evidence of myopathy or a defect of neuromuscular transmission. We conclude: (1) peripheral neuropathy may be a manifestation of Guamanian neurodegenerative disease; (2) the declining prevalence of ALS on Guam is not associated with the development of a subclinical form of motor neuron disease; (3) the substantial overlap of Guamanian ALS with parkinsonism-dementia reported in prior decades is no longer apparent; (4) abnormal central conduction, as assessed by tibial SEP's, is present in some patients with Guamanian parkinsonism-dementia.
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PMID:Guamanian neurodegenerative disease: electrophysiologic findings. 1046 96

We reported a 52-year-old man and his family with bulbospinal muscle atrophy (BSMA) and gynecomastia. The propositus presented with the clinical picture of late onset progressive bulbospinal muscular atrophy including postural tremor, general hyporeflexia, mild maturity onset diabetes, gynecomastia and sexual impotence. One of his brother and his two sons had gynecomastia. His elder son had ocular movement abnormality, associated movement of facial muscle and finger tremor. One of his brothers showed tongue fasciculation without gynecomastia. None of members examined had abnormal expansion of CAG repeats in the androgen receptor gene. We speculate that this family has a new clinical entity characterized by bulbospinal muscular atrophy with an autosomal dominant inheritance.
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PMID:[A family with probable autosomal dominant bulbospinal muscular atrophy with gynecomastia]. 1068 36