Duchenne’s muscular dystrophy

The most common type of muscular genetic disorder is muscular dystrophy of which there are several kinds. Duchenne s muscular dystrophy is characterized by increasing muscular weakness and eventual death. Becker s muscular dystrophy is milder than Duchenne s, but both are X-linked recessive genetic disorders. Other types of muscular dystrophy are caused by a mutation that affects the muscle protein dystrophin, which is absent in Duchenne s and altered in Becker s muscular dystrophies. Other genetic disorders (such as some cardiomyopathies) can affect various muscle tissues. 

Zalman F, Perloff JK, Durant NN, Campion DS. Acute respiratory failure following intravenous verapamil in Duchenne s muscular dystrophy. Am Heart J 1983 105(3) 510-11. 

Chalkiadis GA, Branch KG. Cardiac arrest after isoflurane anaesthesia in a patient with Duchenne s muscular dystrophy. Anaesthesia 1990 45(l) 22-5. 

Ririe DG, Shapiro F, Sethna NF. The response of patients with Duchenne s muscular dystrophy to neuromuscular blockade with vecuronium. Anesthesiology 1998 88(2) 351-4. 

An 11-year-old boy with Duchenne s muscular dystrophy underwent strabismus repair. He also had asthma, for which he was taking prednisone 25 mg/day and theophylline. He underwent inhalational induction with sevoflurane 4% and nitrous oxide 64% tracheal intubation was then performed without the use of a muscle relaxant. Anesthesia was maintained using sevoflurane 1.5-3.0% and nitrous oxide 64%. He also... 

Takahashi H, Shimokawa M, Sha K, Sakamoto T, Kawaguchi M, Kitaguchi K, Furuya H. [Sevoflurane can induce rhabdomyolysis in Duchenne s muscular dystrophy.] Masui 2002 51(2) 190-2. 

Larsen UT, Juhl B, Hein-Sorensen O, de Fine Olivarius B. Complications during anaesthesia in patients with Duchenne s muscular dystrophy (a retrospective study) Can J Anaesth 1989 36(4) 418-22. 

K7. Kleine, T. 0., Evidence for the release of enzymes from different organs in Duchenne s muscular dystrophy. Clin. Chim. Acta 29, 227-231 (1970). 

DNA probes are now used routinely to detect the presence of mutant alleles in fetal cells obtained by amniocentesis, as well as in cells removed from affected adults or carriers. Many inherited disorders, such as sickle cell disease, cystic fibrosis, Huntington s disease, Duchenne s muscular dystrophy, and dozens of other Mendelian (single-gene) disorders, can now be diagnosed in fetuses and adults. In addition to inherited disorders, DNA probes are used to detect the presence of active oncogenes or inactive tumor suppressor genes in cancerous tissues removed from patients (Chapter 26). 

Females occasionally have symptoms of X-linked recessive diseases such as Duchenne s muscular dystrophy, hemophilia, or color blindness. The most common explanation is... 

Duchenne s muscular dystrophy is 1)) caused by the absence of the pro-oO / tein dystrophin, which is a structural protein located in the sarcolemma. Dystrophin is required to maintain the integrity of the sarcolemma, and when absent leads to a loss of muscle function, caused by breakdown of the sarcolemma. The gene is X-linked, and mutations that lead to Duchenne s muscular dystrophy generally result from large deletions of the gene, such that dystrophin is absent from the membrane. Becker s muscular dystrophy, a milder form of disease, is caused by point mutations in the dystrophin gene. In Becker s muscular dystrophy, dystrophin is present in the sarcolemma, but in a mutated form. 

It is also being investigated in the treatment of Duchenne s muscular dystrophy. 4.8.26.9 Questions for Viva-Voce... 

In contrast to viral-based dehvery systems, there is little restriction on the size of the transgene that can be dehvered by direct DNA injection. As a result, direct DNA injection is particularly well suited for treating disorders that require the delivery of a large transgene. For example, Duchenne s muscular dystrophy, a genetic disease of the muscle caused by a defect in the gene for dystrophin (12 kilobases) can potentially be treated by direct DNA injection [137,138],... 

Musculoskeletal disorders (NMD and TRD) are relatively uncommon, but when present are often complicated by respiratory failure (20). Data on the burden of patients with CRF from musculoskeletal disorders are quite heterogeneous. Of the 79 patients who received HMV for CRF in a rehabilitation facility in California, 64% had poliomyelitis with bulbar and respiratory involvement (21), the next most common being Duchenne s muscular dystrophy. Other studies have reported CRF in scoliosis, kyphosis, and post-thoracoplasty TRD, as well as in myopathies such as Ducheime s muscular dystrophy, myotonic dystrophy, postpoliomyelitis, and amyotrophic lateral sclerosis (22). 

Approximately 15% of patients receiving PMV or LTMV have NMD (37,64). NMD can be grouped into disorders involving the central nervous system, such as multiple sclerosis and amyotrophic lateral sclerosis the motor neuron, such as postpolio syndrome and amyotrophic lateral sclerosis the peripheral nerves, such as Guillain-Barre syndrome the neuromuscular junction, such as botulism and myasthenia gravis and the peripheral muscles, such as inflammatory myopathies, myotonic dystrophy type 1, and Duchenne s muscular dystrophy (40). 

Baydur A, Gilgoff I, Prentice W, et al. Decline in respiratory function and experience with long-term assisted ventilation in advanced Duchenne s muscular dystrophy. Chest 1990 97 884-889. 

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