Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0231528 (myalgia)
 6,565 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glycogenosis type V (McArdle disease) is a serious metabolic disorder with an exercise intolerance, myalgia, early fatigue and stiffness of exercising muscles, relieved++ by rest. The authors present a case report of patient with McArdle's disease, and diagnostic procedures which can be used in different diagnostic of metabolic myopathies, especially between myoadenylate deaminase deficiency and different types of gly(geno)lytic myopathies. The importance of "ischemic forearm test" and muscle biopsy is emphasized.
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PMID:[McArdle's disease]. 130 14

A 55 years old patient suffering from exercise-induced muscle pain and stiffness due to primary myoadenylate deaminase deficiency has been successfully treated with D-ribose since 1984: single doses of 4 grams administered at the beginning of exercise prevented the symptoms completely; on continuation of exercise this dose had to be repeated all 10-30 min. Total doses of 50-60 g per day were tolerated without side-effects.
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PMID:Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose. 310 30

The clinical significance of myoadenylate deaminase (MAD) deficiency and its mode of inheritance is still questioned. There were 36 relatives of 9 unrelated MAD deficient patients who were examined with the aid of a standardized ischemic forearm test: 8 new cases of MAD deficiency were detected, 5 of which were confirmed histochemically and biochemically. Obligate heterozygotes showed a normal ammonia production and MAD staining, but the mean activity of the enzyme was significantly less than in a group of controls. The results obtained from the family study strongly suggest an autosomal recessive mode of inheritance. However, only 2 of the 8 newly found MAD deficient individuals complained of exertional myalgia, whereas the remaining 6 were without any symptoms or complaints. This finding casts doubt on the clinical significance of MAD deficiency and the relationship of the deficiency state with exertional myalgia.
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PMID:Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families. 339 78

A histochemical assay was routinely performed of myoadenylate deaminase (MAD) in muscle biopsy specimens. MAD was absent in 13 cases, i.e. 2.9% of the specimens. In 10 cases the deficiency was confirmed biochemically. The diagnoses in the 13 patients were: polyneuropathy (n = 5), infantile spinal muscular atrophy (n = 3), congenital myopathy with type 2 fibre atrophy, facioscapulohumeral myopathy, polymyositis, myotonic dystrophy and hyperornithinaemia with gyrate atrophy of the retina. In contrast, 35 unrelated patients presenting with exercise-related muscle cramps or pains showed normal histochemical MAD activity. The biopsy specimens in all of these patients were essentially normal and in none of them was the diagnosis of a neuromuscular disease made. The results failed to confirm the association of MAD deficiency with aches, cramps and pains or exertional myalgia.
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PMID:Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies. 365 41

This report concerns two unrelated males; one had sarcoidosis, sarcoid myopathy and muscle weakness, and the other had exercise-induced weakness and myalgia. Both patients had a lack of ammonia rise in their serum after an ischemic work test, minimal histochemical activity of myoadenylate deaminase in repeated muscle biopsies, and less than 5% of normal biochemical activity of myoadenylate deaminase in their skeletal muscles. These three criteria establish primary myoadenylate deaminase deficiency as a separate primary metabolic muscle disease which merits differential diagnostic consideration when patients complain of muscle weakness and cramps.
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PMID:Myoadenylate deaminase deficiency. 371 8

An ischemic forearm test with simultaneous measurement of both lactate and ammonia can be used as a screening method for myoadenylate deaminase deficiency (MADD) and for various glyco(geno)lytic defects. A standardized and a nonstandardized test have been compared in a group of 186 patients with exertional myalgia. Standardization of the ischemic forearm test has led to greater yields of both lactate and ammonia in venous return blood of patients and controls. The sensitivity of the proposed test procedure in detecting MADD patients was 100%, whereas the specificity amounted to 98.8% among exertional myalgia patients.
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PMID:Improvement of screening in exertional myalgia with a standardized ischemic forearm test. 378 84

This paper describes 2 brothers with increasingly severe exercise-induced muscle pain and stiffness, beginning in adolescence. Histochemical studies showed that myoadenylate deaminase activity was absent in the propositus, but present in his younger brother. Biochemical examination of muscle homogenates confirmed these findings, with enzyme activity approximately 60% of the mean control value in the younger sibling. Red cell adenylate deaminase activity was normal in both cases. The possible relationship between the clinical and biochemical findings in these patients is discussed.
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PMID:Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain. 705

In 14 members of four families with a hereditary syndrome of exertional myalgia, five of eight muscle biopsies from symptomatic individuals showed histochemical and biochemical absence of myoadenylate deaminase (MADA). In the others, MADA biochemical activity was normal in two and reduced but not absent (intermediate level) in one. Asymptomatic relatives had normal histochemical MADA activity, but three had intermediate biochemical levels. In a survey of 302 routine muscle biopsies, 3 of 36 patient with myalgia had absence of MADA. Three of 266 biopsied for other conditions were MADA-deficient. Despite some inconsistencies, MADA deficiency seems to be relevant to this clinical syndrome.
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PMID:Familial myoadenylate deaminase deficiency and exertional myalgia. 720 81

A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19,000 units/l). The acute rhabdomyolysis and the preceding episodes of muscle pain and weakness had been induced by exercise. There was no increase in plasma ammonia level during ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically. The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle. Both parents and her brother were heterozygous for that mutation. Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis.
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PMID:Myoadenylate deaminase deficiency with severe rhabdomyolysis. 833 21

Myalgia is a complaint associated with numerous medical conditions such as metabolic or hormonal abnormalities, toxic myopathies, tetanus, electrolyte disturbances, inflammatory diseases, and exertion-related pain. A diagnosis of tension myalgia or myofascial-type pain is often considered when no objective findings are seen in the evaluation. This is a report of a patient who was treated unsuccessfully for fibromyalgia for many years and who ultimately was diagnosed with a rare benign skeletal muscle metabolic disorder caused by myoadenylate deaminase deficiency. We discuss this enzyme deficiency and its importance for the physiatric community.
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PMID:Tension myalgia versus myoadenylate deaminase deficiency: a case report. 901 67


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