Should we perform systematic electrophysiological study in Steinert's disease?

Myotonic dystrophy type 1 (Steinert's disease) is a multisystem disorder with autosomal dominant inheritance. This disease is associated with the presence of an abnormal expansion of a cytosine thymine-guanine (CTG) trinucleotide repeat on chromosome 19q13.3. Because of rhythmic complications, the place for systematic electrophysiological study (EPS) has to be discussed

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

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. Diaphragm function evaluation DIAGNOSIS:: Diaphragm muscle weakness attested by the drop of vital capacity (VC) value from sitting position (74%) to supine position (46%). 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. 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

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders.

Respiratory muscles are classically involved in neuromuscular disorders, leading to a restrictive respiratory pattern. The diaphragm is the main respiratory muscle involved during inspiration. Ultrasound imaging is a noninvasive, radiation-free, accurate and safe technique allowing assessment of diaphragm anatomy and function. The authors review the pathophysiology of diaphragm in neuromuscular disorders, the methodology and indications of diaphragm ultrasound imaging as well as possible pitfalls in the interpretation of results

Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle

The disease mechanisms underlying dystrophin-deficient muscular dystrophy are complex, involving not only muscle membrane fragility, but also dysregulated calcium homeostasis. Specifically, it has been proposed that calcium channels directly initiate a cascade of pathological events by allowing calcium ions to enter the cell. The objective of this study was to investigate the effect of chronically blocking calcium channels with the aminoglycoside antibiotic streptomycin from onset of disease in the mdx mouse model of Duchenne muscular dystrophy (DMD)