The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound.

Introduction/aims: One of the most distinct clinical features of facioscapulohumeral muscular dystrophy (FSHD) is facial weakness. It leads to diminished facial expression and functional impairments. Despite its clinical relevance, little else is known about orofacial muscle involvement.

Characterisation of pulmonary air leak measurements using a mechanical ventilator in a bench setup.

Prolonged air leakage (AL) following pulmonary resections leads to prolonged hospital stay and post-operative complications. Intra- and postoperative quantification of AL might be useful for improving treatment decisions, but these measurements have not been characterised. AL calculations based on inspiratory and expiratory tidal volumes were investigated in an Intensive Care Unit mechanical ventilator circuit (Servo-I).

Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study.

Introduction: LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related congenital myopathy (SELENON-RM) are rare neuromuscular diseases with respiratory impairment from a young age. Prospective natural history studies are needed for prevalence estimations, respiratory characterization, optimizing clinical care and selecting outcome measures for trial readiness.

Methods: Our prospective 1.

Respiratory muscle function in patients with nemaline myopathy.

In this cross-sectional study, we comprehensively assessed respiratory muscle function in various clinical forms of nemaline myopathy (NM) including non-volitional tests for diaphragm function. Forty-two patients with NM were included (10 males (25-74 y/o); 32 females (11-76 y/o)). The NM forms were typical (n=11), mild (n=7), or childhood-onset with slowness of movements (n=24).

Association of diaphragm thickness and echogenicity with age, sex, and body mass index in healthy subjects.

Introduction/aims: Diaphragm ultrasound is increasingly used in the diagnosis of diaphragm dysfunction and to guide respiratory management in patients with neuromuscular disorders and those who are critically ill. However, the association between diaphragm ultrasound variables and demographic factors like age, sex, and body mass index (BMI) are understudied. Such relationships are important for correct interpretation of normative values and comparison with selected patients groups.

Respiratory muscle imaging by ultrasound and MRI in neuromuscular disorders.

Respiratory muscle weakness is common in neuromuscular disorders (NMDs) and leads to significant respiratory difficulties. Therefore, reliable and easy assessment of respiratory muscle structure and function in NMDs is crucial. In the last decade, ultrasound and magnetic resonance imaging (MRI) have emerged as promising imaging techniques to assess respiratory muscle structure and function.