Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
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Myoglobinuria is an abnormal urinary excretion of myoglobin due to an acute destruction of skeletal muscle fibres. Several metabolic diseases are known to account for myoglobinuria including defects of glycolysis and fatty acid oxidation. Here, we report on respiratory chain enzyme deficiency in three unrelated children with recurrent episodes of myoglobinuria and muscle weakness (complex I: one patient, complex IV: two patients). All three patients had generalized hyporeflexia during attacks, a feature which is not commonly reported in other causes of rhabdomyolysis. Studying respiratory chain enzyme activities in cultured skin fibroblasts might help diagnosing this condition, especially when acute rhabdomyolysis precludes skeletal muscle biopsy during and immediately after episodes of myoglobinuria.
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PMID:Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood. 1022 61

A 66-year-old female was admitted to our hospital in January, 1998, complaining of low grade fever and muscle weakness of her legs. Physical examination revealed muscle weakness of her neck (4/5) and proximal skeletal muscles of her bilateral legs (3/5-4/5). She showed proteinuria and microhematuria. Her serum levels of ureanitrogen, creatinine, aspartate aminotransferase, alanine aminotransferase, creatinekinase, aldolase and myoglobin were all within the normal ranges. Antinuclear antibodies were negative, but her serum levels of pANCA (743 EU) and C reactive protein (18.0 mg/dl) were elevated. Neuroconduction velocity of her left common peroneal nerve was decreased to 40.8 m/sec and electric myograph showed neurogenic changes. Magnetic resonance images (MRI) of her bilateral thigh depicted high signal intensity in quadriceps by T 2 weighed images, but the signals were not enhanced by gadolinium injection. Muscle and renal biopsies revealed necrotizing vasculitis of the small arteries. Crescentic glomerulonephritis was also observed by renal biopsy. These findings supported the diagnosis of microscopic PN. On 16 th admission day, she developed acute cardiac and respiratory failures due to cardiac and respiratory muscle involvements with PN, and was assisted by mechanical ventilation. She was treated with methylprednisolone pulse therapy (500 mg/day, three consecutive days) on 18 th admission day, followed by 40 mg of oral prednisolone daily. However, her symptoms deteriorated, and herserum creatinine levels increased to 2.4 mg/dl. On 24 th admission day, intravenous cyclophosphamide pulse therapy (500 mg/day) was instituted. Her cardiac wall motion on echocardiography and serum creatinine levels gradually improved, but her skeletal and respiratory muscle weakness did not improve. On 38 th admission day, she was complicated with respiratory infection by methicillin resistant Staphylococcus aures. On 62 th admission day, she died of endotoxic shock. This is the first report describing respiratory muscle involvement with PN, and the second report describing MRI findings of muscle involvement by PN. Therefore, our case provides important clinical information for the diagnosis and treatment of the disease.
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PMID:[A case of microscopic polyangiitis with severe cardiac and respiratory muscle involvement]. 1061 70

Myoglobinuria refers to an abnormal pathologic state in which an excessive amount of myoglobin is found in the urine, imparting a cola-like hue, usually in association with myonecrosis and a clinical picture of weakness, myalgias, and edema. Myoglobinuria is produced by multiple causes: any condition that accelerates the use or interferes with the availability of oxygen or energy substrates to muscle cells can result in myoglobinuria, as can events that produce direct muscle injury, either mechanical or chemical. Acute renal failure is the most serious complication, which can be prevented by prompt, aggressive treatment. In patients surviving acute attacks, recovery of muscle and renal function is usually complete.
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PMID:Myoglobinuria. 1065 77

Idiopathic systemic capillary leak syndrome (Clarkson's disease) is characterized by recurring attacks or increased capillary permeability, resulting in severe hypovolemic shock due to plasma extravasation from the intravascular compartment. Additional laboratory features include association with a monoclonal gammopathy, extreme hemoconcentration and hypoalbuminemia. The underlying cause is not known and there have been fewer than 40 cases reported. It affects people aged 30-40 years and has a high mortality, with only six of 25 patients surviving for more than 5 years. Marked thirst is noted early in the attack and profound muscle weakness, anorexia; nausea, and vomiting are present in all patients, especially so during the course of an attack. Generally, oedema appeared several hours or days before the onset of shock. The total duration of illness varied from six months to seven years. An unknown trigger causes a temporary increase in the macromolecular permeability in the capillary bed of skeletal muscle and connective tissue. The syndrome of rhabdomyolysis includes myalgia, swelling and weakness of the involved muscle groups, pigmenturia, and leakage of myoglobin and CK into the serum. Different treatments have been tried, including plasmapheresis, steroids, epoprostenol, salbutamol and Gingko biloba extract with success in some cases. Treatment with corticosteroids should be considered for prevention of attacks in the systemic capillary leak syndrome.
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PMID:[Syndrome of increased idiopathic capillary permeability (Clarkson's syndrome)]. 1076 13

A 46-year-old woman presented progressive proximal weakness and dysphagia. Her serum creatine kinase and myoglobin levels were markedly elevated. Chest X-rays revealed bilateral swelling of the hilar lymph nodes. Needle electromyography demonstrated active denervation and early recruitment. MRI of her skeletal muscle showed focal high intensities on T1-weighted images that were associated with diffusely increased signal intensities on T2-weighted images. Muscle biopsy revealed infiltration of inflammatory cells associated with non-caseating granulomas, and there was widespread segmental fiber necrosis, where necrotic fibers appeared regardless of these granulomas. Immunohistochemical analysis of the surface markers of the infiltrating cells showed CD68- and CD4-positive cells infiltrating into the central area of the granuloma, while CD8-positive cells infiltrating into the endomysium and the periphery of the granulomas. The characteristic histology of the granuloma confirmed the diagnosis of sarcoidosis. The diffuse muscle pathology was consistent with the patient's severe clinical course.
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PMID:A severe case of subacute sarcoid myositis. 1083 75

A 29-year-old male who had a past history of mild ECG abnormality of arrhythmia at the age of 14 years, was referred to our hospital because of elevated serum creatine kinase (CK) level. He had never been aware of muscular weakness nor cardiac symptoms. Neurological examination revealed normal muscle strength of all extremities except marked back muscle weakness. He had normal intelligence. On laboratory examination, serum AST, ALT, LDH, aldolase, CK and myoglobin levels were elevated. Both lactate and pyruvate levels were normally responded after an ischemic exercises test. Acid maltase activity was normal in white blood cells. A muscle biopsy obtained from rectus femoris muscle revealed vacuolar myopathy with mildly increased PAS positive material. On electron microscopy, there were autophagic vacuoles scavenging glycogen particles and cytoplasmic debris, and sarcolemmal indentation, compatible with the findings of lysosomal glycogen storage disease with normal acid maltase. This patient had unusual clinical features of absent mental retardation and no apparent cardiomyopathy. Accordingly, mental retardation is probably not necessary to see later onset of cardiac muscle involvement.
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PMID:[Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation]. 1088 38

We experienced a 70-year-old female diagnosed as sarcoidosis. She complained bilateral femoral pain from 70-year-old. 3 months after the onset, she developed muscle weakness extending to her upper extremities with high fever of 38-39 degrees C. The erythema appeared at the right femoral region 4 months after the onset. She admitted to our hospital because of further evaluation. When she was admitted, she had tenderness on grasping the femoral muscles, proximal limb muscle weakness and Gowers' sign. On laboratory examination, CRP, aldorase, myoglobin, lysozyme were increased mildly. The EMG demonstrated a myogenic pattern. Muscle biopsy performed from the left quadriceps femoris muscle revealed non-caseating granuloma and muscle fiber necrosis. A diagnosis of muscle sarcoidosis was made from the biopsy findings and the clinical features. With oral prednisolone administration, muscle weakness and other clinical features improved gradually. On muscle MRI, multiple small high intensity areas were scattered in the femoral muscles. Muscle MRI is considered to be useful for differential diagnosis of muscle sarcoidosis.
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PMID:[A case of sarcoid myopathy presenting muscle pain and muscle weakness and with muscle MRI abnormality]. 1100 32

A degenerative skeletal muscle disease with vascular, neurologic, and renal lesions and a probable familial distribution was identified in 4-20-month-old purebred Gelbvieh cattle. Thirteen affected animals were confirmed from 6 separate beef herds, with a mortality rate of 100%. Clinical signs in affected animals consisted of ataxia, weakness, and terminal recumbency. Gross and histologic muscle lesions were indicative of nutritional myopathy of ruminants, with a lack of myocardial lesions in most cases and only rare myocardial changes in a few animals. Acute to chronic lesions in most large skeletal muscle groups consisted of degeneration, necrosis, regeneration, fibrosis, and atrophy. Fibrinoid necrosis of arterioles was a common feature in multiple tissues. Lesions in the spinal cord white matter and peripheral nerves consisted of degeneration of the dorsal columns and axons, respectively. Changes in the kidneys consisted of chronic interstitial nephritis with fibrosis, hyaline droplet change and tubular epithelial vacuolar change and were most severe in the older calves. Intracytoplasmic myoglobin and iron were demonstrated within the hyaline droplets in degenerate renal cortical tubular epithelial cells. Vitamin E levels were deficient in most (6/7) of the animals tested. Investigation of the pedigree of affected animals revealed a common ancestry for all but 1 of the animals whose parentage could be traced. This investigation suggests that a hereditary metabolic defect, possibly involving antioxidant metabolism, could be responsible for this condition. Renal disease, possibly secondary to myoglobinuria, may be unique to this bovine condition.
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PMID:A familial degenerative neuromuscular disease of Gelbvieh cattle. 1193 35

Two cases of alcoholics associated with rhabdomyolysis and acute renal failure were reported. Case 1 was a 67-year-old male who had complained of general fatigue and generalized muscle pain. He had drunken and slept outdoor in winter until he was found. Laboratory data on admission showed remarkable elevation of muscle enzymes (AST, LDH, CPK) and serum levels of myoglobin, BUN, and Cr. He was treated with hemodialysis because of acute renal failure caused by rhabdomyolysis and recovered from renal failure. Case 2 was a 50-year-old male who had been unconscious and suffered from muscle weakness. He had drunken and slept in the bed for several days without eating any food until he was found by his sister. Laboratory data on admission showed remarkable elevation of muscle enzymes and serum levels of myoglobin, BUN, and Cr. It also showed hypoglycemia and hyponatremia. He developed into acute renal failure caused by rhabdomyolysis, but had a good clinical course without hemodialysis. The rhabdomyolysis of case 1 might have been caused by alcohol and sleeping outdoor in winter. That of case 2 might have been caused by alcohol and pressure necrosis due to immobility for several days in his bed.
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PMID:[Two cases of alcoholics associated with rhabdomyolysis and acute renal failure]. 1246 66

A 68-year old Japanese male with alcohol related rhabdomyolysis, hepatitis, and hematological disorders is presented. Biochemical data showed markedly elevated levels of serum hepatobiliary enzymes, lactate dehydrogenase and myoglobin, and decreased levels of serum sodium and phosphate. The serum creatine kinase level was approximately 40 times higher than the normal upper limit with 97% of MM fraction. Clinical manifestations of rhabdomyolysis, such as myalgia, muscle weakness and acute renal failure, were not recognized. Hematological examinations revealed mild neutropenia, lymphopenia, monocytopenia and thrombocytopenia but no anemia or macrocytosis. Initial treatment of an intravenous infusion of saline (30 mL/Kg body weight) and subsequent low sodium diet was successfully completed without severe complications. All the abnormal laboratory data were normalized within three weeks of his hospitalization. We suggest that hyponatremia and hypophosphatemia may be involved in the development of rhabdomyolysis, hepatitis and hematological disorders.
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PMID:Rhabdomyolysis, hepatitis and multiple hematological disorders associated with alcohol abuse: a case report. 1293 2


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