This chapter focuses on the gene therapy advances made in relation to Duchenne muscular dystrophy and discusses principles and perspectives of strategies currently being developed. The chapter explains the genetic mutations that cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) and the differences between the two are discussed in relation to disease severity. The histo...

BACKGROUND Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients. However an acute perforated gastro-duodenal peptic ulcer has not been documented up to now. CASE PRESENTATION A 26-year-old male with Duchenne muscular dystrophy with a ...

Twenty-seven hospitals in Japan specialize in treatment of muscular dystrophy patients, including inpatient care, of which 26 belong to the National Hospital Organization, and the other is the National Center of Neurology and Psychiatry. Since 1999, Japanese muscular dystrophy research groups investigating nervous and mental disorder have been developing a database of cases treated at these 27 ...

X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy. XLDCM is caused by mutations of the Duchenne muscular dystrophy (DMD) gene and results in lethal heart failure in individuals between 10 and 20 years. Patients with Becker muscular dystrophy, an allelic disorder, have a milder...

C ARDIAC muscle is commonly affected in muscular dy~trophies.l-~ X-linked Duchenne's inuscular dystrophy and Becker's muscular dystrophy are caused by mutations in the gene encoding dystrophin,5,6 a membrane cytoskeletal p r ~ t e i n . ~ In skeletal and cardiac muscle, dystrophin is associated with a large oligomeric complex of sarcolemmal g lycopr~te ins .~~~ This dystrophin-glycoprotein comp...

A new scale for motor function measurement has been developed for neuromuscular diseases. The validation study included 303 patients, aged 6–62 years. Seventy-two patients had Duchenne muscular dystrophy, 32 Becker muscular dystrophy, 30 limb-girdle muscular dystrophy, 39 facio-scapulo-humeral dystrophy, 29 myotonic dystrophy, 21 congenital myopathy, 10 congenital muscular dystrophy, 35 spinal ...

Muscular dystrophies have historically been characterised according to clinical criteria, however in the genomic age the muscular dystrophies are now subdivided into groups according to the primary gene defect. Currently identified are 29 different loci and encoded proteins, giving rise to 34 distinct forms of muscular dystrophy (Dalkilic & Kunkel 2003; Hsu 2004). The majority of these types of...

BACKGROUND Patients with muscular dystrophy have been reported to experience a variety of life-threatening complications during and after general anesthesia. We performed a systematic analysis to define the spectrum of anesthetic-related complications in patients with muscular dystrophy, with an emphasis on malignant hyperthermia susceptibility. METHODS A literature search was undertaken usin...

Mutations in several members of the dystrophin glycoprotein complex lead to skeletal and cardiomyopathies. Cardiac care for these muscular dystrophies consists of management of symptoms with standard heart medications after detection of reduced whole heart function. Recent evidence from both Duchenne muscular dystrophy patients and animal models suggests that myocardial dysfunction is present b...

Muscular dystrophies are a heterogeneous group of genetically inherited disorders whose most prominent clinical feature is progressive degeneration of skeletal muscle. In several forms of the disease, the function of cardiac muscle is likewise affected. The primary defect in this group of diseases is caused by mutations in myocyte proteins important to cellular structure and/or performance. Tha...