Myotonic dystrophy is a group of inherited disorders called muscular dystrophies. Clinical presentation of this disease is characterised by progressive muscle weakness with myotonia, cataracts, infertility (in males) and cardiac conduction defects. We present a case of a 35 year old male with lung abscess, later diagnosed to be a case of myotonic dystrophy. Lung abscess is an uncommon presentat...

Abbreviations: GSTs: Glutathione S-Transferases; DM: Myotonic Dystrophy; PROMM: Proximal Myotonic Myopathy; ROS: Reactive Oxygen Species; Ile: Isoleucine; Val: Valine; EMG: Electromyographia; NCV: Nerve Conduction Velocity; OD: Optical Density; SNP: Single Nucleotide Polymorphisms; LWD: Learning and Writing Disability; SLD: Speech and Languages Disability; SCK: Serum Creatine Kinase; CK-MM: Cre...

Three chromosome 19 markers known to be linked to myotonic dystrophy have been studied in nine families with peripheral neurofibromatosis (Von Recklinghausen's disease). Clear evidence against linkage has been found for all three markers, excluding the peripheral neurofibromatosis gene from the myotonic dystrophy region of chromosome 19. Previous reports of co-inheritance of the two disorders i...

Myotonic dystrophy is caused by an expansion of a CTG triplet repeat sequence in the 3' noncoding region of a protein kinase gene, yet the mechanism by which the triplet repeat expansion causes disease remains unknown. This report demonstrates that a DNase I hypersensitive site is positioned 3' of the triplet repeat in the wild-type allele in both fibroblasts and skeletal muscle cells. In three...

Myotonic dystrophy is a rare genetic disorder characterized by muscle atrophy and weakness. Surgical treatment of this condition poses various problems for the anesthesiologist. We describe the anesthetic management of a 10-month-old infant with congenital myotonic dystrophy, who was scheduled for endoscopic third ventriculostomy under general anesthesia. Anesthesia was induced with thiopental ...

Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM s...

The concept of anticipation, the occurrence of a genetic disorder at progressively earlier ages in successive generations, has been debated from the early years of this century, with myotonic dystrophy as the most striking example. Throughout most of this period there has been controversy as to whether the phenomenon resulted from observational and ascertainment biases or reflected a more funda...

Genetic analysis of 54 sibships containing 70 patients with congenital myotonic dystrophy has shown paternal transmission in only one case, the disorder being maternally transmitted in 51 sibships. No instance of new mutation was found. At least half the sibs were unaffected; 9 sibs were affected without definite congenital involvement. No evidence for genetic heterogeneity was found, most affe...