Electrophysiological and histopathological findings of muscular disease suspected as myotonic dystrophy in a Shiba dog.

An 8-year-old male Japanese Shiba exhibited muscle wasting and a stiff gait. A low-amplitude myotonic discharge was recorded by needle electromyography (EMG). A histopathological examination on a tru-cut biopsy sample from the muscle revealed myofiber size variations. Internal nuclei and cytoplasmic vacuoles were observed in many fibers. A type 1 fiber predominance and many hybrid type fibers were observed immunohistochemically. On the basis of these EMG and histopathological findings, myotonic dystrophy (DM) was suspected as tentative diagnosis. The cytoplasm around the vacuoles was immunopositive for cytochrome c, tom 20, and SOD-1, suggesting that these vacuoles might occur within mitochondria. Collectively, these results indicate that a mitochondrial abnormality partly play the role on the pathogenesis of present case.

Myotonic dystrophy in two European grey wolves (Canis lupus).

Two related European Grey wolves (Canis lupus) with the history of muscle stiffness beginning at 2 weeks of age were examined in this study. Muscle tone and muscle mass were increased in both animals. Muscle stiffness was worsened by stress so that the animals fell into lateral recumbency. Blood chemistry revealed mildly increased serum creatine kinase activity. Abnormal potentials typical of myotonic discharges were recorded by electromyography. Cataract, first-degree atrioventricular (AV) block and inhomogeneous myocardial texture by ultrasound suggested extramuscular involvement. Myopathology demonstrated dystrophic signs in the muscle biopsy specimen. The presumptive diagnosis based on the in vivo findings was myotonic dystrophy. Immunochemistry of the striated muscles revealed focal absence of dystrophin 1 and beta-dystroglycan in both cases. Cardiac and ophthalmologic involvement suggested a disorder very similar to a human form of myotonic dystrophy. This is the first description of myotonic dystrophy in wolves.

Inherited muscular disorder in mutant Japanese quail (Coturnix coturnix japonica): an ultrastructural study.

Ultrastructural study of muscles taken from a mutant (LWC) strain of Japanese quail with myotonia showed type 2 fibre atrophy, ring fibre formation, sarcoplasmic masses, and "moth-eaten" fibres. In these abnormal fibres, the most characteristic feature was the loss of interconnection among the myofibrils, mitochondria, and T tubules. Apparently normal muscle fibres often showed mild changes, such as proliferation of T tubules and enlarged sarcoplasmic areas with increased glycogen granules and ribosomes at the periphery of the fibres. The study suggested that one possible cause of these ultrastructural changes was a defect in cytoskeleton of muscle cells, especially in intermediate filaments.

Skeletal muscle changes associated with equine myotonic dystrophy.

A progressive neuromuscular disorder in young horses, clinically apparent as early as 1 month of age, is characterized by generalized myotonia, muscle stiffness, muscle weakness and atrophy. Myotonia is identified by percussion dimpling and myotonic EMG discharges. Changes in one case included testicular hypoplasia, cataract formation, and glucose intolerance, indicating a systemic involvement. Pathologic changes in skeletal muscles from three affected foals were examined. Sarcoplasmic masses, ringed fibers, internal positioning of sarcolemmal nuclei, and nuclear rowing were among the primary histologic changes noted. Variation in fiber diameter size, especially atrophy, and type I predominance were also prominent changes. A neurogenic involvement was indicated by type grouping changes in several muscles.

Myotonia congenita. A histochemical and ultrastructural study in the goat: comparison with abnormalities found in human myotonia dystrophica.

Muscle biopsy specimens from the myotonic goat, an animal model of heritable myotonia, were examined histochemically and by electron microscopy. After Periodic acid-Schiff (PAS) staining with diastase digestion, there was increased PAS-positive material within myotonic goat fibers, as compared with those of normal goats. Myotonic muscle stained with alizarin red S, a histochemical stain for calcium, also had an increased staining reaction when compared with muscle from normal goats. Several ultrastructural abnormalities were found in myotonic goat muscle using routine osmium and uranyl acetate staining. These included increased density of the t-tubules, electron-dense material within t-tubules, proliferation and dilatation of sarcotubular elements, and abnormal mitochondria in the myotonic biopsy specimens. To further study muscle ultrastructure, ruthenium red and lanthanum were used as electron microscopic stains with specificity for membranes. There was increased density of the sarcolemma and t-tubules in myotonic muscle stained with ruthenium red as compared to normal, and lanthanum produced a darker staining reaction of the myotonic goat sarcolemma. The histochemical and ultrastructural differences between normal and myotonic goat muscle were interpreted to be consistent with a morphologic basis for the abnormal contraction-relaxation properties characteristic of myotonia.

Primary progressive muscular dystrophy in the dog.

A case of primary progressive muscular dystrophy in a labrador dog is described. The differential diagnosis with respect to certain muscular and nervous disorders is discussed. The possibility of the hereditary nature of the disease is indicated.