Spirometry correlates with physical activity in patients with Duchenne muscular dystrophy.

Background: Duchenne muscular dystrophy (DMD) is associated with progressive muscle weakness and respiratory decline. To date, studies have focused on respiratory decline and loss of ambulation as a metric of loss of skeletal muscle strength. However, new functional measures can assess skeletal muscle disease regardless of ambulatory status.

Improving Access and Guideline Adherence in Pulmonary Care in Patients With Duchenne Muscular Dystrophy.

Background: Duchenne muscular dystrophy (DMD) is a devastating, progressive neuromuscular disease that results in cardiopulmonary failure and death. In 2018, the DMD Care Considerations guidelines were updated to improve the multidisciplinary approach to care and promote early respiratory management. We sought to evaluate the impact of a multidisciplinary clinic on access to pulmonary care and adherence to respiratory care guidelines.

Duchenne muscular dystrophy patients: troponin leak in asymptomatic and implications for drug toxicity studies.

Background: Cardiomyopathy is the leading cause of death in Duchenne muscular dystrophy (DMD), but studies suggest heart failure biomarkers correlate poorly with cardiomyopathy severity. DMD clinical trials have used troponin I (cTnI) as a biomarker of toxicity, but it is unclear if asymptomatic DMD patients have elevated cTnI. We longitudinally evaluated cTnI, brain natriuretic peptide (BNP), and N-terminal pro-BNP (NT-proBNP) in a DMD cohort.

The BDNF rs6265 Polymorphism is a Modifier of Cardiomyocyte Contractility and Dilated Cardiomyopathy.

Brain-derived neurotrophic factor (BDNF) is a neuronal growth and survival factor that harbors cardioprotective qualities that may attenuate dilated cardiomyopathy. In ~30% of the population, BDNF has a common, nonsynonymous single nucleotide polymorphism rs6265 (Val66Met), which might be correlated with increased risk of cardiovascular events. We previously showed that BDNF correlates with better cardiac function in Duchenne muscular dystrophy (DMD) patients.

Multidisciplinary Perioperative Care for Children with Neuromuscular Disorders.

Children with neuromuscular diseases present unique challenges to providing safe and appropriate perioperative care. Given the spectrum of disease etiologies and manifestations, this is a population that often requires specialized multidisciplinary care from pediatricians, geneticists, neurologists, dieticians, and pulmonologists which must also be coordinated with surgeons and anesthesiologists when these patients present for surgery. Several of these diseases also have specific pharmacologic implications for anesthesia, most notably mitochondrial disease and muscular dystrophies, which put them at additional risk during the perioperative period particularly in patients presenting without a formal diagnosis.

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

Copy-number variations cause genomic disorders. Triplications, unlike deletions and duplications, are poorly understood because of challenges in molecular identification, the choice of a proper model system for study, and awareness of their phenotypic consequences. We investigated the genomic disorder Charcot-Marie-Tooth disease type 1A (CMT1A), a dominant peripheral neuropathy caused by a 1.

Correlation of heart rate and cardiac dysfunction in Duchenne muscular dystrophy.

Sinus tachycardia is common in cases of Duchenne muscular dystrophy (DMD). The authors hypothesized that an elevated heart rate would herald cardiomyopathy onset. A retrospective case-control study was performed with 55 DMD boys and 150 age-matched control boys.