Adult Onset of Nemaline Myopathy Presenting as Respiratory Insufficiency

Abstract

A 49-year-old woman was admitted to the hospital for hypercapnia. Pulmonary function testing showed small lung volumes without parenchymal lung disease. Muscle enzyme levels were normal and the EMG was nonspecific. Finally, muscle biopsy revealed abundant nemaline bodies characteristic of nemaline myopathy. Nasal intermittent pressure ventilation was started with a preset pressure ventilator during sleeping hours with a good response.

Idiopathic adult‐onset nemaline myopathy presenting with isolated respiratory failure

“…8 Presentation with respiratory failure was reported in one previous case. 7 Serum creatine kinase (CK) levels can be mildly raised but are usually normal. There are no other biochemical abnormalities in most patients.…”

Respiratory involvement in inherited primary muscle conditions

“…101 In adult-onset nemaline myopathy, muscle weakness may present later in life; respiratory weakness has been known to occur when patients are still ambulatory and also as the initial presentation. 102 Distal myopathy Distal myopathy is uncommon and may be inherited or may occur as a sporadic mutation. The condition is characterised by progressive weakness starting in the distal limb muscles with associated myopathic changes on muscle biopsy.…”

Sporadic late onset nemaline myopathy

“…One reported patient presented with respiratory insufficiency. 18 The serum CK level usually is normal or even lower than normal and the EMG shows myopathic features with fibrillation potentials. A monoclonal gammopathy without features of AL amyloidosis or multiple myeloma is a frequent associated finding.…”