Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene have been associated with autosomal dominant skeletal dysplasias and peripheral nervous system syndromes (PNSS). PNSS include Charcot-Marie-Tooth disease (CMT) type 2C, congenital spinal muscular atrophy and arthrogryposis and scapuloperoneal spinal muscular atrophy. We report the clinical, electrophysiological and muscle bi...

Duchenne muscular dystrophy is the most common form of muscular dystrophy. Genetic and biochemical research over the years has characterized the cause, pathophysiology and development of the disease providing several potential therapeutic targets and/or biomarkers. High throughput - omic technologies have provided a comprehensive understanding of the changes occurring in dystrophic muscles. Mur...

OBJECTIVE To investigate the prevalence, age distribution, and spectrum of cardiac involvement in a cohort of patients with Becker muscular dystrophy. DESIGN A prospective non-invasive study with clinical, electrocardiographic, and echocardiographic assessment. PATIENTS 19 patients (age range 16-41 years) with Becker muscular dystrophy attending the Muscle Clinic at Hammersmith Hospital and...

We have performed a detailed population study of patients with genetic muscle disease in the northern region of England. Our current clinic population comprises over 1100 patients in whom we have molecularly characterized 31 separate muscle disease entities. Diagnostic clarity achieved through careful delineation of clinical features supported by histological, immunological and genetic analysis...

Duchenne muscular dystrophy (DMD) is a fatal, X-linked neuromuscular disease that affects 1 boy in 3500 to 5000 boys. The golden retriever muscular dystrophy dog is the best clinically relevant DMD animal model. Here, we used a high-thoughput miRNA sequencing screening for identification of candidate serum miRNA biomarkers in golden retriever muscular dystrophy dogs. We confirmed the dysregulat...

Zellweger H, Antonik A. Newborn screening for Duchenne muscular dystrophy. Pediatrics 1975 ;55 :30-4. 2 Firth M, Gardner-Medwin D, Hosking G, Wilkinson E. Interviews with parents of boys suffering from Duchenne muscular dystrophy. Dev Med Child Neurol (in press). 3 Beckmann R, Scheuerbrandt G. Muskeldystrophie (Duchenne)Friiherkennung, CK-Screeningtest, Konsequenzen. Der Kinderarzt 1977;8 :313-...

Incipient cardiac failure was detected in 56 per cent of cases of pseudohypertrophic muscular dystrophy, 50per cent oflimb girdle type ofmyopathies, and2 of the 3 cases with 'unclassifled' variety. 'Myopathic pattern' in the electrocardiogram was seen in 82 per cent of the cases of pseudohypertrophic muscular dystrophy who showed abnormal haemodynamics. This suggests that this pattern is due to...

Neuromuscular diseases can have a tremendous impact on pregnant women and affect offspring. Healthcare providers need to have a firm understanding of the genetics involved as well as the potential complications that can arise when treating pregnant women who have been diagnosed with a neuromuscular disease or have an increased risk for delivering an infant affected by one of these disorders. Th...