Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report

RATIONALE: Diaphragm is the main inspiratory respiratory muscle and little is known about diaphragm ultrasound in facio-scapula-humeral muscular dystrophy, a neuromuscular disease characterized by an asymmetric skeletal muscle involvement. PATIENT CONCERNS: Diaphragm function evaluation DIAGNOSIS: Diaphragm muscle weakness attested by the drop of vital capacity (VC) value from sitting position (74%) to supine position (46%). INTERVENTIONS: A diaphragm ultrasound was performed in supine position, from the anterior subcostal window OUTCOMES: We found an opposite side to side hemi diaphragm displacement, either during sniff maneuver or during deep inspiration maneuver, showing a cranial abnormal reduced motion of the right hemi diaphragm whereas the left hemi diaphragm moved caudally. LESSONS: Diaphragm weakness may be present with an asymmetric pattern and an opposite motion during inspiration or sniff manoeuver in facio-scapula-humeral muscular dystrophy. A future study with a systematic evaluation of a greater number of FSHD1 patients will be necessary to characterize this population.