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)

Manual muscle testing of mothers of patients with X-linked muscular dystrophy has demonstrated patterns of proximal muscle weakness. The degree of weakness usually has little effect on activities of daily living but can be detected by standardized "break" testing with manual stabilization of body parts, elimination of synergistic muscles, and mechanical advantage given to the patient. Manual muscle testing is a valuable adjunct to the clinical and biochemical tools available for detecting carriers.
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PMID:Evaluation and detection of Duchenne's and Becker's muscular dystrophy carriers by manual muscle testing. 55 16

The production of energy in muscle from long-chain fatty acid oxidation is dependent upon the presence of carnitine. An abnormally low level of muscle carnitine, as seen in patients with the carnitine deficiency syndrome, results in marked muscle weakness. Muscle from 83 consecutive patients undergoing diagnostic muscle biopsy was assayed for carnitine. Carnitine levels (mean +/- SEM, expressed as nmoles carnitine per mg noncollagen protein) in muscle from patients with Duchenne dystrophy (8.1 +/- 1.7) and possible Becker dystrophy (10.6 +/- 3.0) were significantly (P less than 0.001) different from histologically normal muscle (24.0 +/- 1.4). Carnitine levels in patients with limb-girdle dystrophy (16.1 +/- 3.1) and polymyositis/dermatomyositis (16.6 +/- 3.2) were also low, although not as low as in Duchenne dystrophy. Carnitine levels from patients with denervation atrophy (22.1 +/- 3.6), nonspecific fiber atrophy (21.3 +/- 1.3), and a group of miscellaneous neuromuscular diseases (20.4 +/- 1.4) were not significantly different from histologically normal muscle. The low values of carnitine seen in Duchenne dystrophy and a group of possible Becker dystrophy patients may be a nonspecific effect, related to severe muscle damage.
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PMID:Muscle carnitine levels in neuromuscular disease. 92 14

Eight patients with Duchenne muscular dystrophy (DMD) and seven normal children of similar age were studied with a new electromyographic method for coherent displays of potentials. Five hundred motor unit potentials (MUPs) were analyzed in 20 proximal and distal muscles representing a wide spectrum of dystrophy. The progressive MUP disintegration by dropping out of muscle fibers was documented, as well as a high incidence of spontaneous fibrillation. A total of 386 late component (LC) potentials followed the 500 MUPs at consistent latencies. No LC occurred in normal children. The LCs result from motor axon sprouts innervating muscle fibers that are newly formed either by segmentation of existing muscle fibers (focal neucrosis and membrane repair) or by muscle regeneration. Axons in DMD can thus collaterally innervate additional muscle fibers. These processes must delay the onset and progression of clinical weakness in DMD patients.
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PMID:Regeneration in Duchenne muscular dystrophy. Electromyographic evidence. 96 46

We measured endogenous phosphorylation of peak II (apparent molecular weight of 220,000 daltons) of the erythrocyte membrane in 21 mothers of patients with Duchenne muscular dystrophy. The mean values of mothers with affected sons were significantly increased over those of matched controls (77.0 and 55.8 pmoles per milligram of 15-minute incubation; P less than 0.01). Detailed testing of mothers of affected sons revealed proximal muscle weakness. Seven mothers of isolated patients who had normal levels of creatine phosphokinase and no daughters with elevated levels were identified as carriers, because their mean value of peak II phosphorylation was increased (75.9 pmoles per milligram per 15 minutes) and equivalent to the level demonstrated in the 14 acknowledged carriers. Our results suggest that cases of Duchenne muscular dystrophy previously considered to be new mutations are much less common than estimated.
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PMID:Carrier detection in Duchenne muscular dystrophy. 124 34

Duchenne muscular dystrophy (DMD) is a disease of progressive muscular weakness and wasting. This study is designed to evaluate the muscle strength and functional performance of patients with DMD during the natural progression of this disease. This study comprises a sample of 35 subjects who were confirmed to have DMD. Manual muscle testing (MMT) was used to evaluate muscle strength, the Brooke functional scale to rate the motor function of the upper extremity, and the Vignos functional scale to rate the motor function of the lower limbs. The results showed a significant positive correlation between age and the decrement in strength, i.e. a one year increment in age led to a 3.9% decrease in the average muscle strength. The strength loss always occurred in a typical pattern proceeding from the lower extremities to the upper extremities, and from the proximal to the distal parts. There was a significant negative correlation between muscle strength and both the Brooke and Vignos functional scales. These findings may suggest that decreased muscle strength results in a progressive worsening of the functional performance of the extremities. In addition, the Brooke scale is significantly correlated with the Vignos scale through the natural course of DMD. The high percentage (90.5%) of subjects without the long leg braces needed for ambulation indicates an inadequate rehabilitation care for DMD patients in this country.
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PMID:[The strength and functional performance of patients with Duchenne muscular dystrophy based on natural history]. 129 40

X-rays computed tomographic (CT) scans of muscles of the lower limbs and the trunk in 14 patients with facioscapulohumeral muscular dystrophy (FSH) were studied. The CT scans showed that the affected muscles were decreased in density and size. The laterality of muscular involvement was sometimes observed. The muscular lesions in the lower limbs showed proximal distribution. In the thigh, the hamstrings were affected first, the adductor muscles second, and then the muscular involvement progressed to the quadriceps femoris muscle. In the lower leg, the gastrocnemius and soleus muscles were relatively spared as compared with the tibialis anterior muscle. In the lumbar girdle, the abdominal muscles were involved first, the gluteal muscles second, the back muscles third, and the psoas major muscle were relatively spared. The muscular weakness of this distribution exacerbated lumbar lordosis. The neck muscles were less affected than those of the lumbar girdle. The CT scans in FSH demonstrated the characteristic pattern of muscular involvement, which differed from the inherited muscular diseases such as Duchenne muscular dystrophy, myotonic dystrophy, and others.
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PMID:[X-ray computed tomographic scans of lower limb and trunk muscles in facioscapulohumeral muscular dystrophy]. 129 48

Two cases of childhood muscular dystrophy are described. One of them had clinical features suggestive of Emery-Dreifuss muscular dystrophy and the other with some features of Prader-Willi syndrome, besides proximal muscle weakness. Muscle biopsy from both cases revealed a clear abnormality of dystrophin, and were diagnosed as having Duchenne muscular dystrophy (DMD) by immunofluorescence examination; that is, absent dystrophin at the membrane of the muscle fibers. The clinical spectrum of DMD-related myopathies and the importance of dystrophin testing in childhood muscular dystrophies is discussed.
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PMID:Dystrophin test in differential diagnosis of childhood muscular dystrophies. 130 19

Emery-Dreifuss disease is a benign X-linked muscular dystrophy characterized by a distinct pattern of muscle weakness, which is of insidious onset and slow progression. It is associated with atrial paralysis that results in sudden death in early adulthood if left untreated. The authors report the documentation of electrical and mechanical silence confined to the atria in a patient with this disease. Electrocardiography and electrophysiological study document the absence of electrical atrial activity, and inability to pace the atria. Hemodynamic studies demonstrate the absence of A waves, and angiography revealed immobility of the atria. This patient has done well following the institution of permanent ventricular pacing. His brother, who also had muscular dystrophy, died a sudden cardiac death at the age of 29 after refusing medical intervention. Emery-Dreifuss muscular dystrophy is particularly worthy of recognition because of the preventable occurrence of sudden death in young patients with an otherwise excellent prognosis. Permanent ventricular pacing is indicated.
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PMID:Atrial paralysis in a patient with Emery-Dreifuss muscular dystrophy. 137 11

We report a patient with X-linked muscular dystrophy who had rapidly progressive muscle weakness and became wheelchair-bound at age 10 years. Clinically, he was diagnosed as having Duchenne muscular dystrophy; however, he was diagnosed as having Becker muscular dystrophy by dystrophin tests using a C-terminal monoclonal antibody. No immunolabelling was observed with a monoclonal antibody against the N-terminal domain. Multiplex polymerase chain reaction analysis revealed the deletion of exons 3-19. The data suggest that the deletion of the N-terminal domain of dystrophin can cause a severe phenotype even when the C-terminus of the protein is well preserved.
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PMID:Phenotypic Duchenne muscular dystrophy with C-terminal domain. 138 24

A 4-year-old girl was identified with high creatine kinase (CK) values, and mild muscle weakness in a limb-girdle distribution. Results of dystrophin analysis of the muscle biopsy were consistent with a manifesting heterozygote for Duchenne muscular dystrophy. In peripheral lymphocytes she had a t(X;12) (p21.2;q24.33). Late DNA replication studies demonstrated inactivation of the normal X chromosome in 99.4% of cells. Dystrophin immunofluorescence showed 64% dystrophin-negative muscle fibers. Dystrophin content of muscle by immunoblot was approximately 5% of normal. The discordance between the percent of normal X inactivation and percent of dystrophin-negative cells may be explained by compensatory protection of dystrophin by rare nuclei with the normal X active in multi-nucleated muscle fibers with shared cytoplasm.
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PMID:X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers. 141 26


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