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)

A 54-year-old farmer with a negative family history had had mild proximal weakness for the previous 4 years. Clinical examination showed marked scoliosis, barrel-shaped chest, diffuse hypotrophy, and mild proximal weakness. Creatine kinase was 938 U/l; electrocardiography and echocardiography were normal. EMG disclosed myopathic changes. Muscle biopsy showed slight, nonspecific alterations. Dystrophin was present and normally distributed with antibodies against the C-terminal and N-terminal, whereas it was not recognized by the antibody against the rod domain. Western blotting detected an abnormal molecular weight protein of 320 kd (normal, 427 kd). Southern blot analysis revealed a deletion from exon 21 to exon 44, corresponding to 26% of the coding region of dystrophin. Six years' follow-up did not disclose progression of the muscle disease.
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PMID:Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene. 814 28

Inclusion body myositis is an increasingly recognised form of inflammatory myopathy with characteristic clinical and histopathological features which has seldom been reported in the United Kingdom. This paper presents the clinicopathological features of a series of patients diagnosed in Nottingham from 1986 to 1990. During this period, 1319 muscle biopsy samples were processed by this laboratory and rimmed vacuoles were seen in 17 patients. Eleven patients had definite or probable inclusion body myositis according to published criteria. The mean age of the group was 69.4 years with a male to female ratio of 8:3. Typical clinical features were a slowly progressive painless, proximal lower limb weakness, with muscle wasting and early loss of reflexes. The median duration of illness from first symptom to presentation was five years (range 2-18 years). Falls were a prominent symptom in six patients and distal weakness occurred in nine patients. Creatine kinase was increased in 10 patients but only one had a level > 1000 IU/l; the erythrocyte sedimentation rate was normal in five patients. Treatment with steroids or cytotoxic drugs, or both, did not prevent disease progression. It is confirmed that inclusion body myositis is a distinct cause of inflammatory myopathy which is probably underdiagnosed in the United Kingdom. Clinically, it should be suspected in older patients presenting with muscle weakness of insidious onset. Pathologically, a careful search should be made for rimmed vacuoles and inflammation; ultrastructurally, the presence of inclusions will confirm the diagnosis.
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PMID:Inclusion body myositis: an underdiagnosed condition? 838 83

A 61-year-old woman presented progressive distal weakness and wasting of her upper limbs spreading to the shoulder girdle and to the neck muscles. Creatine kinase, cerebrospinal fluid, spinal X-ray and spinal nuclear magnetic resonance were normal. Electromyography showed myopathic alterations. Muscle biopsy showed abundant rods in many fibres. Prednisone 75 mg/die for two months did not modify the symptoms.
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PMID:Adult onset nemaline myopathy: a distinct nosologic entity? 839 57

Nemaline (rod) myopathy is a congenital muscle disease with a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. An adult-onset variant is characterized by large numbers of rod-containing myofibers, numerous rods per affected myofiber, and the absence of specific structural abnormalities typical of other muscle diseases. Few cases fulfilling these criteria have been described in the literature. Rare cases have had an associated inflammatory component, and the majority of these have occurred in patients with an underlying immunologic disorder. We present an unusual case of an immunologically competent 65-year-old man with late-onset nemaline myopathy, who was previously diagnosed with an inflammatory myopathy based on a muscle biopsy that contained chronic inflammation. His symptoms consisted of a 2-year history of progressive proximal muscle weakness; his family history was unremarkable. A neurologic examination confirmed the presence of bilateral proximal muscle weakness, normal sensation, and decreased upper and lower extremity reflexes. Creatine kinase levels were normal, and electromyographic findings indicated a myopathic process. A modified trichrome stain of the right biceps muscle revealed granular, basophilic, centrally located rods in the atrophic myofibers. Ultrastructurally, these myofibers contained osmiophilic rectangular structures with a latticelike appearance typical of nemaline myopathy. This case illustrates that adult-onset nemaline myopathy, although rare, should be considered in the differential diagnosis of an inflammatory myopathy.
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PMID:Adult-onset nemaline myopathy: a case report and review of the literature. 937 51

We present a father and son with congenital foot deformity. The father at age 41 years used crutches and the son at 7 years walked unaided. Both had atrophy and weakness of lower leg muscles and mild proximal and hand intrinsic weakness. Knee and ankle myotactic reflexes were absent and sensation was intact. Creatine kinase level was normal, nerve conduction studies wer normal and electromyography showed chronic neurogenic change. In both, nerve biopsies were normal and muscle biopsies showed type 1 predominance. The boy's serum hexosaminidase, spinal MRI and SMN gene were normal. This may be the first well documented example of congenital autosomal dominant distal spinal muscular atrophy affecting legs and arms.
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PMID:Congenital autosomal dominant distal spinal muscular atrophy. 971 59

A 78-year-old woman was admitted to our hospital on September 14, 1992, because of systemic myalgia and stiffness, joint pain, and gait disturbance. She had begun to feel headache and pain in the neck and shoulder in the middle of August, 1992. The pain became systemic, and was accompanied by a low-grade fever, which was unresponsive to NSAIDs. On admission, she had no joint swelling or deformities in the extremities. Neurological examination revealed weakness in the right leg, hypoalgesia below the left C4 level, hyperreflexia in the right extremities, and right Babinski's sign. The erythrocyte sedimentation rate was very high (100 mm/h). Levels of other acute phase reactants were also high. Tests for antinuclear antibody and anti-cardiolipin antibody were positive, but a test for rheumatoid factor was negative. Creatine kinase activity was within normal limits. A T1-weighted magnetic resonance image of the cervical spine at 0.5 T showed an intramedullary low signal. A T2-weighted image showed a borderless spindle-like high signal. Four nodules enhanced by Gd DTPA were seen at C1-C4. The age at onset, myalgia, stiffness, and erythrocyte sedimentation rate were considered to be consistent with a diagnosis of polymyalgia rheumatica. Glucocorticoid treatment was therefore started, and a dramatic clinical improvement was evident within a few days. The patient was discharged from hospital on November 30, 1992. To our knowledge, myelopathy complicated by polymyalgia rheumatica has never been reported previously. Recently, some patients with polymyalgia rheumatica have been reported to have anti-cardiolipin antibody in serum. In the present case anti-cardiolipin antibody may have played a role in the formation of microemboli or in angitis of the cervical spine.
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PMID:[Polymyalgia rheumatica and myelitis associated with anti-cardiolipin antibody]. 1021 70

We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. Creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. Head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.
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PMID:Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation. 1039 52

McArdle's disease or myophosphorylase deficiency is one of the most common muscle glycogenoses and typically presents in childhood or adolescence with exercise intolerance, myalgia, myoglobinuria, and cramps in exercising muscle. We describe an elderly man who developed asymmetric proximal arm weakness at age 73. He had no history of exercise-induced cramps, myalgias, or myoglobinuria. Creatine kinase levels were elevated, serum lactate did not rise on ischemic exercise testing, and muscle biopsy showed a vacuolar myopathy with absent myophosphorylase activity. This unusual case demonstrates that McArdle's disease may present with fixed, asymmetric proximal weakness at an advanced age and should be considered in this clinical setting, especially when a history of poor exercise tolerance can be elicited.
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PMID:McArdle's disease presenting with asymmetric, late-onset arm weakness. 1071 77

Myositis and rhabdomyolysis with influenza are rare, but sometimes serious complications. Patients with myositis more commonly have influenza B infection than influenza A. On the other hand, rhabdomyolysis are more frequently recognized in patients with influenza A infection than those with influenza B. Upper respiratory symptoms usually precede myositis, while rhabdomyolysis occurs simultaneously or shortly after the respiratory symptoms. Creatine kinase levels are elevated in myositis mildly and in rhabdomyolysis markedly. Influenza myositis improve spontaneously within 6 weeks, but influenza rhabdomyolysis sometimes induce renal failure with fatal outcome. Although the true incidence of myositis and rhabdomyolysis in the influenza infection remains unknown, careful medical care is necessary when patients have muscle pain and weakness.
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PMID:[Myositis and rhabdomyolysis with influenza infection]. 1122 17

We report on a 63-year-old man with idiopathic Parkinson's disease who developed kyphosis and a severe forward flexion of the thoracolumbar spine. A typical feature was an increase during walking or standing and it completely disappeared in the supine position, mimicking the clinical phenomenon of camptocormia (bent spine). In addition to the abnormal posture, a weakness of the erector spinal muscles, local pain, reddening, and elevated temperature of the paraspinal muscles were evident. Creatine kinase was initially elevated, electromyography showed spontaneous activity and a myopathic pattern. Magnetic resonance imaging and bioptic examinations revealed a focal myositis of the paraspinal muscles. This case indicates that camptocormia can be mimicked by focal myositis of paraspinal muscles and must be included in the differential diagnosis, especially when additional symptoms as inflammatory signs or weakness are present.
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PMID:Camptocormia in Parkinson's disease mimicked by focal myositis of the paraspinal muscles. 1211 14


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