Amyloid myopathy presenting with respiratory failure.
نویسندگان
چکیده
منابع مشابه
Amyloid myopathy presenting with respiratory failure.
Amyloidosis is a rare cause of myopathy. Its prominent or presenting feature may be respiratory failure. Physiological measurement of transdiaphragmatic pressure and biopsy specimens of muscle show the pathological mechanism to be diaphragm weakness due to amyloid infiltration of the diaphragm rather than parenchymal lung involvement. Thus amyloid myopathy even without the typical macroglossia ...
متن کاملAdult-onset nemaline myopathy presenting as respiratory failure.
Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory fun...
متن کاملPolymyositis presenting with respiratory failure.
Polymyositis is a systemic autoimmune disorder characterised by inflammatory myopathy of the skeletal muscles predominantly affecting the proximal muscles and associated with extra-muscular manifestations like dysphagia and skin involvement. In this case report, we describe the occurrence of diaphragmatic weakness and respiratory failure due to polymyositis with relatively well preserved power ...
متن کاملTubular aggregate myopathy presenting with acute type II respiratory failure and severe orthopnoea.
Acute hypercapnic respiratory failure (AHRF) is a common reason for hospital admission. Most patients have an underlying chronic lung disease such as chronic obstructive pulmonary disease. We report the case of a man who presented with AHRF secondary to tubular aggregate myopathy.
متن کاملTitin mutation segregates with hereditary myopathy with early respiratory failure.
In 2001, we described an autosomal dominant myopathy characterized by neuromuscular ventilatory failure in ambulant patients. Here we describe the underlying genetic basis for the disorder, and we define the neuromuscular, respiratory and radiological phenotype in a study of 31 mutation carriers followed for up to 31 years. A combination of genome-wide linkage and whole exome sequencing reveale...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1992
ISSN: 0022-3050
DOI: 10.1136/jnnp.55.2.162