Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy.
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PMID:Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. 282 22

Although many surgical procedures originally associated with gastroparesis are less commonly performed nowadays, several more recently developed upper abdominal procedures may be complicated by the development of gastroparesis. Gastroparesis has been described in association with neurologic disorders ranging from Parkinson disease to muscular dystrophy, and its presence may have important implications for patient management and prognosis. Although scleroderma is most frequently linked with gastrointestinal motility disorder, gastroparesis has been linked to several other connective tissue disorders. The management of these patients presents several challenges, and is best conducted in the context of a dedicated and skilled multidisciplinary team.
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PMID:Other forms of gastroparesis: postsurgical, Parkinson, other neurologic diseases, connective tissue disorders. 2566 24