Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Muscle biopsies from 14 patients with facioscapulohumeral muscular dystrophy (FSHD) aged from 5 to 45 years were studied histochemically with fiber type analysis, focusing on small angular fibers (SAF) to clarify their significance. There were no duration-related or age-dependent histopathological differences between child and adult patients. Variations in fiber size and SAF were observed in all, myonecrosis with occasional phagocytosis in 10 and regenerating fibers in 12 biopsies. Cellular responses including inflammatory cell infiltration (7 biopsies) and connective tissue proliferation (8 biopsies), and fiber architectural changes (9 biopsies) were additional common findings. Although SAF are also commonly seen in patients with Kugelberg-Welander disease and amyotrophic lateral sclerosis, in FSHD they were mostly type 2C fibers which frequently exhibit alkaline phosphatase-positive activity. Therefore SAF in FSHD are mostly the products of a regeneration rather than denervation process.
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PMID:Facioscapulohumeral muscular dystrophy: muscle fiber type analysis with particular reference to small angular fibers. 172 49

We measured with a radioimmunoassay the concentrations of carbonic anhydrase III (CA-III, EC 4.2.1.1) in sera from 68 patients with muscular dystrophy, 10 carriers of Duchenne muscular dystrophy (DMD), and 63 patients with other neurological disorders. The values obtained were compared with those for creatine kinase (CK, EC 2.7.3.2). Serum CA-III was strikingly increased in patients with DMD (mean, 274.4 micrograms/L) and congenital (Fukuyama-type) (182.8 micrograms/L) and limb-girdle (203.7 micrograms/L) dystrophies and positively correlated with the activities of CK in patients with DMD. CA-III concentration decreased with the subjects' age and the severity of the disease, similar to the tendency observed between age or severity and the concentration of CK. We found moderately increased CA-III in patients with polymyositis, myotonic dystrophy, amyotrophic lateral sclerosis, spinal progressive muscular atrophy, or Kugelberg-Welander disease and in carriers of DMD.
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PMID:Carbonic anhydrase III in serum in muscular dystrophy and other neurological disorders: relationship with creatine kinase. 189 62

We report two cases of patients diagnosed of motoneuron disease. First patient had amyotrophic lateral sclerosis with bulbar involvement and developed prolonged apnea after general anesthesia for elective hemorrhoidectomy. Second patient had Kugelberg-Welander disease or type III hereditary mononeuron disease, underwent laparotomy and had no anesthetic complications. Patients with motoneuron disease should be considered as high anesthetic risk patients because they may develop respiratory complications accordingly to their previous muscle involvement so neurologic and respiratory assessment is basic. The use of succinylcholine should be limited to cases in whom external denervation and muscle atrophy may be ruled out. Short half-life muscle relaxants such as atracurium and vecuronium are advised with monitoring of neuromuscular function. Currently, local-regional techniques are not contraindicated.
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PMID:[Anesthesia in two patients with motor neuron disease]. 209 63

It has been reported that amyotrophic lateral sclerosis-Parkinsonism-dementia in Guam might be related to the eating of Cycas seeds, which contain cyanide. Based on this assumption, we determined the urinary thiocyanate excretion level in patients with ALS and compared this with that of other neurological diseases. The assay method was designed to use column chromatography with Amberlite IRA 402. The thiocyanate level was determined using pyridine-barbiturate method. The 24-h thiocyanate level was higher in the ALS patients of the middle stages than in the normal control group (Wilcoxon's test, P less than 0.02). There were no significant differences between the ALS patient groups of the early and terminal stages, Kugelberg-Welander disease group, Duchenne type muscular dystrophy group and control group. From these results, we concluded that ALS patients were contaminated with cyanide or thiocyanate and that, along with rapid muscular atrophy, the thiocyanate excretion levels were high.
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PMID:Determination of urine thiocyanate in patients with amyotrophic lateral sclerosis. 258 12

In order to elucidate the relationship between certain neuromuscular diseases and gonadal hormones, we measured the levels of serum estrogens and other sex-related hormones. The values were compared with those for age-matched controls. The cases, comprising bulbospinal muscular disease of the Kennedy-Alter-Sung type, Kugelberg-Welander disease, amyotrophic lateral sclerosis, and Duchenne muscular dystrophy, were all euthyroid males. The baseline levels of serum estrone were significantly higher in all of the patients than in age-matched normal subjects. Serum baseline testosterone, LH and FSH levels were all essentially normal, except low FSH levels in Duchenne muscular dystrophy. Since our patients had no overweight, liver or glandular abnormalities, we presume that the elevated serum estrone levels have resulted from increased peripheral androgen-to-estrogen conversion.
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PMID:Hyperestrogenemia in neuromuscular diseases. 292 48

Hexosaminidase deficiency diseases or GM2-gangliosidoses were originally described as infantile encephalopathies. Recently, hexosaminidase deficiencies have been found with different phenotypes, including juvenile and adult encephalopathies, cerebellar ataxias, and motor neuron diseases. Individual cases have resembled Ramsey-Hunt syndrome, olivopontocerebellar ataxia, Friedreich ataxia, amyotrophic lateral sclerosis, Kugelberg-Welander disease, Fazio-Londe disease, and Charcot-Marie-Tooth disease. Tremor, dystonia, spastic paresis, and psychosis have been seen. Since few diagnosable causes for these system atrophies are known, these patients should be tested for hexosaminidase deficiency. These recessive disorders fit a multiple loci/multiple alleles genetic scheme, and a clinical genetic classification is presented.
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PMID:The clinical spectrum of hexosaminidase deficiency diseases. 719 92

A syndrome of progressive muscular atrophy in reported in male members of a Caucasian family. Two affected members were examined in detail, one with post mortem. Fasciculations and atrophy of tongue as well as of the proximal limb muscles were observed, and there was profound weakness of the proximal muscles. The EMG and muscle biopsy were consistent with a neurogenic disease. The most pronounced lesion was in the lateral part of the anterior horn, with minimal involvement of the ventral portion of the anterior horns and sparing of the neurons of Clarke's column. Two earlier families with possible Kugelberg-Welander syndrome have been reported in which a sex-linked form also seems probable, and the varied inheritance pattern and uncertain pathological correlations suggest that the Kugelberg-Welander and familial amyotrophic lateral sclerosis both represent heterogenous neurological disorders.
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PMID:Late onset spinal muscle atrophy--a sex linked variant of Kugelberg-Welander. 739 54

Motor neuron disease (MND) and spinal muscular atrophies (SMA) are difficult to diagnose with classical EMG methods because significant findings appear relatively late and both groups of diseases show neurogenic type of record differing only in a relatively greater amount of fasciculations and higher amplitude of motor unit potential (MUP) in MND compared with SMA. We examined 12 patients with MND-amyotrophic lateral sclerosis and 7 patients with SMA type III and IV according to Swash with advanced EMG techniques-magnetic stimulation, single fiber and macro EMG. With transcranial magnetic stimulation, a significant prolongation of cortical latency was found in MND (P < 0.0001 right hand and P < 0.0005 left hand) against SMA, where it was almost normal. With single fiber EMG, mean jitter was less markedly increased in MND (P < 0.05 against SMA) and fiber density was lower in MND (P < 0.005). With macro EMG, no significant difference was found in either macro amplitude or area. Macro fiber density was also lower in MND (P < 0.005). Advanced EMG techniques proved to differentiate clearly the III. (Kugelberg-Welander) and IV. (adult) type of SMA from MND-amyotrophic lateral sclerosis.
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PMID:Advanced EMG techniques in diagnostics of spinal muscular atrophies and motor neuron disease--magnetic stimulation, single fiber EMG and macro EMG. 788 98

We studied the clinical value of real time sonographic imaging of fasciculation in patients with neuromuscular diseases, which presented for 4 with amyotrophic lateral sclerosis (ALS), 2 with Kennedy-Alter-Sung syndrome, 1 with Kugelberg-Welander disease, and 1 with n-hexane neuropathy. The ultrasound image of fasciculation showed characteristic of each disease in several features. Analysis of sonographic image revealed that duration, size of fasciculation, and interval of fasciculation in Kennedy-Alter-Sung syndrome and Kugelberg-Welander disease, which is chronic progressive neuromuscular disorders, were longer than that in ALS, n-hexane neuropathy which are acute progressive disorders. We believe the fasciculation image may have significant implications with clinical course. Real time sonography offers a quantitative and qualitative means of investigating fasciculation and is effective to identify pathological information.
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PMID:[Real time sonographic imaging of fasciculation]. 971 Nov 26