Rod myopathy with extensive systemic and respiratory muscular involvement.
A patient with both muscle weakness and progressively degenerating respiratory function became increasingly less responsive to therapeutic intervention. The diagnosis of the muscle disease was made through biopsy samples and confirmed as rod myopathy. Through autopsy samples, the patient was found to have had extensive centriacinar emphysema and widespread involvement of rod disease in the skeletal muscles. The most involved of the muscles sampled (anterior tibial, brachioradialis, rectus femoris, psoas, diaphragm, biceps) was the diaphragm. While the influence on diaphragmatic function has been reported in the juvenile form of rod disease, this is the first known report of the extensiveness of involvement in adult-onset disease. The diseased state of the diaphragm was appreciated as a contributing factor to the respiratory insufficiency.
D000328:Adult; D003599:Cytoskeleton / Q000648:ultrastructure*; D003964:Diaphragm / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000150:complications / Q000473:pathology*; D009132:Muscles / Q000648:ultrastructure*; D009210:Myofibrils / Q000648:ultrastructure*; D011656:Pulmonary Emphysema / Q000209:etiology; D012131:Respiratory Insufficiency / Q000209:etiology