Myofibrillar myopathies (MFMs) are a small but fairly heterogeneous group of neuromuscular diseases characterised, at the histopathological level, by the accumulation of protein products which cause a disorganisation of the internal architecture of the muscle fibre network. Their clinical manifestations are varied, with distal muscle involvement and potentially lethal cardiac abnormalities being the most common. Respiratory muscles may also be involved in this disease.
A French team including clinicians from the Institute of Myology reports the case of a 59 year old patient with MFM admitted for cardiorespiratory evaluation. Ultrasound showed significant thickening of the parasternal intercostal muscle associated with diaphragm dysfunction in this patient.
These findings suggest that ultrasound may be useful in assessing and monitoring patients with neuromuscular disorders who are at risk of respiratory failure. In this context, in patients with MFM, ultrasound can be used to indirectly assess diaphragmatic impairment, focusing on the measurement of parasternal intercostal muscle thickening, which is implicated in severe chronic respiratory failure.
