Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 11-year-old girl with congenital myotonic dystrophy and infantile autism was reported. Her mother also suffered from typical myotonic dystrophy. Since her birth, the patient had been floppy, and showed bilateral talipes equinus at 1 year of age. Her subsequent psychomotor and speech development has been retarded. She showed autistic behavior and persistence to the sameness before 2 years old. She was admitted to Sawarabien at the age of 10 years. She could not talk anything but could understand simple, oral messages. Although she had severe degree of mental retardation, her ability for matching figures was relatively well reserved. Her autism was so manifest that it could not be explained by the degree of mental retardation. Neurological examinations revealed that she had facial diplegia, inverted V-shaped mouth, high-arched palate, talipes equinus, percussion myotonia of the tongue, generalized muscular atrophy and weakness, lordosis, areflexia, and congenital cataracta. The serum CPK was slightly elevated. EMG showed a myopathic pattern but did not show any myotonic discharge yet. The brachioradial muscle was biopsied and examined by light- and electron-microscopy. It mainly showed mild varieties of muscle fiber diameter and internal nuclei. Ultrastructurally, irregularly indented central nuclei and perinuclear degeneration of myofibrils associated with secondary lysosomes, lipid droplets and glycogen granules were revealed. Ventricular dilatation and some dysfunction of the brain were also revealed by CT scan and EEG respectively. The present case suggests that congenital myotonic dystrophy can be added into the disease group associated with infantile autism.
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PMID:[A case of congenital myotonic dystrophy with infantile autism]. 278 60

A case of polymyositis with repeated dysphagia and muscle weakness associated with peculiar findings of skin was reported. The patient was a 67-year-old man. His birth and development was normal. There was no family history of neuromuscular disease. On 26th March 1987 he was admitted to a hospital because of dysarthria and dysphagia after fever and diagnosed as having viral myositis. His conditions improved spontaneously with bed rest and he left hospital on 14th April. On 23rd April he had chill and sore throat with fever. On 27th he was admitted to the same hospital because of dysarthria and muscle weakness of the proximal portion of the upper limbs. These symptoms also improved with bed rest. He had repeated these symptoms several times and then he was admitted to our hospital on 12th June. On examination he showed the skin pigmentation under the right eye and the eruption in the back of hands and the buttocks. Muscle weakness was observed in the proximal portion of the upper limbs and the neck flexor. Laboratory tests in admission were as follows: sGOT 49 mU/ml, sGPT 104 mU/ml, LDH 1064 mU/ml, CPK 565 mM/ml, aldolase 25.2 IU/1/37 degrees C. Electromyography showed the typical myogenic changes and biopsy of left biceps brachii revealed inflammatory cells in the muscle fiber which are specific to polymyositis. Immuno-histochemical study is performed to analyse the subpopulation of mononuclear cells in biopsied muscle and skin. Mononuclear cells infiltrated into perimysium, endomysium and epidermis were positive for T11 and T8, but less positive for T4, B1 and Leu11. On the basis of these findings he was diagnosed as having "polymyositis syndrome".
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PMID:[A case of polymyositis with repeated dysphagia and muscle weakness associated with peculiar findings of skin]. 280 15

A 37-year-old man suffered from photosensitivity and urinary casts with serological findings of positive anti-DNA antibody, LE cells and false positive VD reaction in September of 1979. He developed general fatigue, dyspnea and diplopia with ptosis of bilateral eyelids in November of 1979, which were improved by the anti-cholinesterase drugs. In January of 1980, he had an attack of unconsciousness and his chest X-ray film showed several tumorous shadows in the anterior mediastinum and middle and lower lung fields. Treating him with chemotherapy of VEMP, the pulmonary shadows disappeared. However, he developed severe muscle weakness with an elevated CPK (430 mU/ml) and a myogenic EMG pattern along with an increased anti-acetylcholine receptor antibody (243 n Mol/l), dysphagia and eyelid-ptosis. He died in September of 1985 and his autopsy disclosed a malignant thymoma of mixed type in the anterior mediastinum and an atrophy and fibrosis with infiltration of inflammatory cells in the striated muscles.
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PMID:[An autopsy case of a patient with myasthenia gravis who showed various symptoms of collagen diseases and complicated with malignant thymoma]. 281 7

Myonecrosis has been reported to occur in patients with carbon monoxide (CO) poisoning, and last year we reported a case of non-traumatic rhabdomyolysis in a patient with CO poisoning secondary to smoke inhalation. We prospectively studied the association between CO poisoning and rhabdomyolysis by obtaining serum creatine kinase (CPK) levels on 65 of 81 consecutive patients (range 20-1315 IU/L) who presented to the University of Illinois Hospital Emergency Room during a 3-month period with CO levels greater than 5.0% (range 5.0%-63.9%). Thiocyanate levels were obtained on 45 patients (range 0-3.5 mg/dl). We found no statistically significant correlation by linear regression analysis between CO level and CPK level in these patients. A subjective complaint of weakness was obtained in 4 patients and physical evidence of weakness was found in 1 of these (this was felt to be secondary to a cerebrovascular accident). In none of these 4 patients was an elevated CPK level noted. We did, however, note an association between thiocyanate level and CPK level by linear regression analysis (p less than 0.02). A power curve was a better fit for this data (r2 = 0.7). This data suggests that serum CPK levels should not be routinely obtained on patients with CO poisoning and that cyanide may play a more important role in non-traumatic rhabdomyolysis associated with toxic inhalation than had previously been suspected.
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PMID:Carbon monoxide and myonecrosis: a prospective study. 292 21

Myonecrosis is an unusual sequelae to carbon monoxide poisoning with only 16 cases having been reported in the English-language literature. At the University of Illinois Hospital, we encountered a 25-year-old fire academy student who presented to our Emergency Department with a carboxyhemoglobin level of 16% following a training exercise in a smoke-filled room. The patient was not wearing a self-contained breathing apparatus and his duration of exposure was 7-8 min, by which time he had blacked out for about 1 min. Upon arrival, the patient was lethargic, with a moderate inhalation burn. The patient was treated with hyperbaric oxygen at 2 1/2 ATA. Following 90 min of hyperbaric oxygen, slight flexor compartment weakness, along with tenderness of the proximal lower extremities was noted. CPK was elevated to 65,998 (100% mm) with urine dipstick being positive for blood and only occasional rbc's seen in the urine sediment. The patient did well with forced diuresis and alkalinization of the urine. No oliguria was noted and the CPK fell to 893 five days later. This is the only case in the English-language literature who developed myonecrosis from carbon monoxide, despite hyperbaric oxygen treatment. We believe that this case demonstrates that hyperbaric oxygen cannot prevent the development of myonecrosis induced by carbon monoxide.
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PMID:Myonecrosis in carbon monoxide poisoning. 335 79

A five year old boy who had received logopedic treatment for more than two years was seen as an outpatient because of speech retardation. He presented with myopathic face, incomplete closure of both lids and severe weakness of facial muscles, bilateral winging of scapulae and hyperlordosis. Extraocular and pharyngeal muscles were not affected. Motor and sensory nerve fibre conductions and electromyography were within normal limits. CPK was moderately elevated (320 U/I). Muscle biopsy of right deltoid muscle revealed unspecific myopathic changes. The patients brother aged 7 also presented with facial weakness, elevated CPK and neurogenic changes in EMG of deltoid muscle. Both parents were clinically and electrophysiologically unremarkable. Although problems to speak distinctly are usually not the first manifestation, we found in this family facio-scapulo-humeral muscular dystrophy.
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PMID:[Articulation disorder as the initial manifestation of facioscapulohumeral muscular dystrophy in childhood]. 370 73

A 34-year-old woman noted difficulty of gait initiation, then dilated finger opening and hyperhidrosis appeared. Her stature was a muscular habitus, and muscle stiffness and myokymia were found in all muscles of the extremities. Her stiffness persisted during sleep. Her calf muscles were large and a contracture was noticed in ankle joints. There was no evidence of wasting and weakness. A remarkable delay in voluntary relaxation of the contracted muscles without percussion myotonia was recognized. Tendon reflexes of lower extremities were absent. Laboratory examination revealed elevation of CPK, LDH, myoglobulin, aldolase and basal metabolic rate (BMR). An extraband of CPK isoenzyme between MB and MM fraction was observed. The thin layer gel filtration technique and immunofixation technique showed that this extraband was complexes of CPK and IgA, and light chain of the CPK linked IgA was lambda type. All other laboratory tests were normal for the following: urinalysis, ESR, a blood count, liver function, kidney function, glucose, rheumatoid factor, CRP, thyroid function, parathyroid function, serum electrolytes, ECG, EEG, cranial CT, without slight elevation of IgA, and CSF protein. In needle EMG and surface EMG spontaneous discharges were recorded at rest. These discharges consist of normal motor unit potentials, doublets, and triplets in needle EMG. The discharges were markedly reduced after the median nerve block with xylocaine. In needle EMG, myotonic discharge was not observed. Nerve conduction velocities were within normal ranges. According to these data, she was diagnosed as having Issacs' syndrome (continuous muscle fiber activity syndrome). Carbamazepine, 200 mg daily was administrated and showed a dramatic reversal of the symptoms.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of Isaac's syndrome--continuous muscle fiber activity syndrome]. 373 Jan 94

Sixty steroid-treated patients with asthma were evaluated for the presence of muscle weakness by use of both manual muscle testing and the Cybex II isokinetic dynamometer. The patients were compared to age and sex-matched sedentary control subjects. Forty-eight percent of the patients (12/25) taking greater than or equal to 40 mg per day of prednisone had hip flexor strength greater than or equal to 2 SD below the mean of age and sex-matched control subjects by Cybex testing (CT). Sixty-four percent of the patients (16/25) taking greater than or equal to 40 mg per day of prednisone were found on manual muscle testing to have hip flexor weakness. Only one patient taking less than 30 mg per day of prednisone was found to have muscle weakness. Biochemical parameters, including CPK, aldolase, SGOT, LDH, and LDH isoenzymes were measured to assess the degree of steroid-induced muscle damage. They neither correlated with the degree of hip flexor weakness as measured by CT, nor did they discriminate between patients receiving small doses and large doses of steroids. Changes in urinary excretion of creatine did not help to confirm the diagnosis of steroid myopathy. Although CT provides an objective means of assessing muscle strength in these patients, at this time no definitive chemical test is available for the diagnosis of steroid myopathy.
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PMID:Steroid myopathy: incidence and detection in a population with asthma. 401 54

A case is described with the characteristic clinical features of rigid spine syndrome: childhood onset in a male, very slowly progressive weakness and muscle atrophy, limitation of neck and trunk flexion, joint contractures, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens. Myopathic patterns with various histological changes in muscle biopsy specimens were seen in all eight reported cases of the rigid spine syndrome, but there are no characteristic histological findings in the rigid spine syndrome.
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PMID:Rigid spine syndrome: clinical and histological problems. 618 85

The patient, a 31-year-old woman, suffered from a weakness of the proximal muscles which subsequently worsened involving the spinal and neck muscles. During the hospitalization, the patient displayed a "burning feet" syndrome. Lab tests showed a moderate increase in CPK, Aldolase, SGPT, SGOT, lactic and pyruvic acids. Needle EMG was interpreted as "myopathic" but a marked reduction of sensitive action potentials was also detected. Muscle biopsy showed neutral lipid accumulation in muscle fibers, many small angular fibers, probably denervated ones were also evident. A liver biopsy showed fatty accumulation in hepatocytes. Free carnitine was extremely reduced in muscle and liver and just below normal level in plasma while there was a tenfold elevation of long-chain carnitine esters in plasma too. The mechanism by which carnitine deficiency can cause both neural and muscular alterations and in particular the role of carnitine in glucose metabolism is discussed.
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PMID:Systemic carnitine deficiency with peripheral nerve involvement morphological and biochemical study. 626 16


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