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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report on a 34-year-old woman who had developed severe weakness and reduction in grip strength in both upper and lower limbs. Laboratory blood tests revealed increased levels of muscle enzyme. The presence of progressive bilateral ptosis and external ophthalmoplegia raised the suspicion of a mitochondrial disease, subsequently confirmed by deltoid biopsy and genetic analysis of mitochondrial DNA that showed a deletion indicative of Kearns-Sayre syndrome. In this report we emphasise the need for a differential diagnosis between myositis and other myopathies, particularly the mitochondrial ones.
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PMID:Mitochondrial disease mimicking polymyositis: a case report. 1222 94

Muscular fatigue may result from HIV infection, and may be associated with antiretroviral drug treatment. Clinical features linked to muscle biopsy findings may assist in determining etiology, and guide treatment decisions. This case series examined HIV patients in an ambulatory HIV clinic who received antiretroviral therapy, and complained of unexplained muscular fatigue. Clinical features with measurement of acid-base status, levels of lactate, aminotransferases, triglycerides and creatine kinase were correlated to light and electron microscopic results of muscle biopsy. Three patients with acquired mitochondrial changes on biopsy shared common features of lactatemia, elevated aminotransferases and triglycerides, and ultrasonographic hepatic steatosis. A fourth patient with normal mitochondria had myositis with fibrosis, but no systemic symptoms. Biochemical parameters were unremarkable, except for a high creatine kinase. Acquired mitochondrial disease may manifest as systemic illness and muscular fatigue. Unique metabolic changes and other organ dysfunction may precede overt physical signs of HIV myopathy.
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PMID:Clinical correlates to muscle biopsy findings in HIV patients experiencing fatigue: a case series. 1294 81

Diagnosing mitochondrial disorder remains a challenge. In a 75-year-old women, with short stature, muscle cramps, ptosis, fasciculations and progressive, proximal limb weakness and wasting, hyponatriemia, abnormal lactate-stress-test, and slightly abnormal electromyography, muscle biopsy suggested granulomatous myositis. Corticosteroids and azathioprin were ineffective. After a second work-up amyotrophic-lateral-sclerosis was diagnosed. Riluzole was started, without effect. She developed respiratory insufficiency, requiring mechanical ventilation. Apical ballooning was found. After switching to non-invasive positive pressure ventilation and physiotherapy, she markedly improved. After a third diagnostic work-up, mitochondrial disorder was suspected. Unfortunately, she died suddenly from a cardiac arrhythmia at home. Mitochondrial disorder may mimic motor neuron disease, muscle biopsy may mimic myositis, and may show only little evidence for respiratory chain disorder.
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PMID:Consequences of misdiagnosing mitochondrial disorder. 1686 Nov 55

Takotsubo syndrome may be associated with neuromuscular disorders, but has never been described in a patient with mitochondrial disorder. A 75-year-old woman developed muscle cramps, ptosis, fasciculations and slowly progressive weakness and wasting of all four limbs, starting 2.5 years earlier. After exclusion of various differential diagnoses, including non-specific granulomatous myositis, inclusion body myositis, and motor neuron disease, mitochondrial disorder was assumed. Muscle weakness progressed to respiratory insufficiency, requiring mechanical ventilation. Five days after intubation, she developed hypotension, torsades de pointes, ST-segment elevation, and negative T waves. Echocardiography revealed apical ballooning with akinesia of the left ventricular anteroseptal, apical, apicolateral and inferior segments. Coronary angiography was normal, and ventriculography confirmed apical hypokinesia and ballooning. Takotsubo syndrome was diagnosed, resolving completely within 7 weeks under bisoprolol. This case shows that Takotsubo syndrome occurs also in mitochondrial disorder and under mechanical ventilation, and may be triggered by stress from respiratory insufficiency, intubation, pain from tracheostomy, stress from mechanical ventilation, medication, or from the uncertain prognosis.
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PMID:Apical ballooning (Takotsubo syndrome) in mitochondrial disorder during mechanical ventilation. 1788 29

This chapter covers the very large number of possible disorders that can affect the three ocular motor nerves, the neuromuscular junction, or the extraocular muscles. Conditions affecting the nerves are discussed under two major headings: those in which the site of damage can be anatomically localized (e.g., fascicular lesions and lesions occurring in the subarachnoid space, the cavernous sinus, the superior orbital fissure, or the orbit) and those in which the site of the lesion is either nonspecific or variable (e.g., vascular lesions, tumors, "ophthalmoplegic migraine," and congenital disorders). Specific comments on the diagnosis and management of disorders of each of the three nerves follow. Ocular motor synkineses (including Duane's retraction syndrome and aberrant regeneration) and disorders resulting in paroxysms of excess activity (e.g., neuromyotonia) are then covered, followed by myasthenia gravis and other disorders that affect the neuromuscular junction. A final section discusses disorders of the extraocular muscles themselves, including thyroid disease, orbital myositis, mitochondrial disease, and the muscular dystrophies.
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PMID:Infranuclear ocular motor disorders. 2160 Oct 71