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Old 12-14-2012
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Default What's your Diagnosis?

Patient is a 26 year old man. He works as a counselor in a residential facility for individuals with chronic disabilities. He is 5 feet 7 inches tall and weighs 167 pounds.
He has Duchenne muscular dystrophy and has been wheelchair dependent since the age of 20. He has never smoked. He reported an increased difficulty breathing at night over the past 8 months and has been having increasing difficulty with choking when eating. He has been increasingly anxious about periods of breathlessness during the night. He has been able to sleep for only about 5 or 6 hours over the past month. Over the past 3 years, he has had two bouts of chest infections requiring antibiotics. A recent study of his arterial saturations throughout the night revealed a decrement from 95 % during the day to 87% during the night. CPAP is being considered. His PFT’s showed and FEV1 of 73% predicted, FVC of 77% predicted and an FEV1/FVC ratio of 95%. His ABG’s on room air were 7.38/40/23/74.. whats' your diagnosis?
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Old 12-14-2012
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Dilated CM from deleted dystrophin gene----->paroxysmal nocturnal dyspnea
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Old 12-14-2012
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I think its Zenker's diverticulum.......choking episodes with eating and two bouts of pneumonia......
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Old 12-15-2012
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where are forum masters..? hope to get more answer !
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Old 12-15-2012
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Duchenne muscular dystrophy affecting his chest and esophageal skeletal muscles causing difficulty of inspiration (restrictive pattern) and choking when eating.
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