Myotonia in related Chow Chow dogs

A myopathy associated with myotonia was observed in three related Chow Chow dogs. The clinical signs were first noticed at 2 to 3 months of age. They included muscle spasm and stiffness of gait which decreased in severity with exercise. Electromyographic findings and the demonstration of a muscle percussion dimple confirmed the presence of myotonia. Dystrophic changes were observed in muscle biopsies but histochemical techniques did not demonstrate fibre type changes. An inherited aetiology was suspected but not confirmed.     

Hereditary myotonia in the Chow Chow

Four related Chow Chow puppies which were presented because of stiffness in their movements were shown to have myotonia similar to myotonia congenita of man. Electromyography revealed characteristic myotonic discharges. Repetitive nerve stimulation studies showed a marked fade in the compound muscle action potential (CMAP) which was most apparent at stimulation rates of 10 per sec or higher. If stimulation was continued at a rate of 10 per sec the CMAP returned to normal or sometimes greater than normal following several seconds of the reduced response. The decremental response could be exaggerated by cooling the muscle prior to repetitive nerve stimulation. A therapeutic trial to assess the efficacy of the commonly used membrane stabilizing agents, quinidine, procainamide and phenytoin, indicated that all three drugs were beneficial in the treatment of myotonia but procainamide produced the best response. Hypocholesterolaemia was documented in one case. The possibility of a multisystem membrane defect in hereditary myotonia associated with low serum cholesterol was considered.     

A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog

BACKGROUND: Heritable myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. The main clinical signs are skeletal muscle stiffness, especially after vigorous contraction, and muscle hypertrophy. Muscle stiffness may be enhanced by inactivity, and often is relieved by exercise. Myotonia can be inherited in an autosomal dominant or recessive manner (Thomsen- or Becker-type myotonia, respectively). In mice, goats, Miniature Schnauzer dogs, and most affected humans, the disorder is caused by mutations in CLCN1, which encodes the skeletal muscle voltage-gated chloride channel, Cl1C-1. HYPOTHESIS: We hypothesized that an Australian Cattle Dog with generalized muscle stiffness and hypertrophy examined at the Ontario Veterinary College would have a mutation in the CLCN1 gene. ANIMALS: A pure-bred Australian Cattle Dog from Ontario, Canada, was used. METHODS: Based on clinical signs and electromyographic test results, a diagnosis of myotonia hereditaria was made, and a muscle biopsy was collected for genetic analysis. RESULTS: Sequence data obtained from the affected dog confirmed that it was homozygous for a single base insertion in the CLCN1 coding sequence. This mutation would result in a truncated ClC-1 protein being expressed, which, based on molecular evidence from other studies, would result in functionally compromised chloride conduction in the skeletal muscles of the animal. CONCLUSIONS AND CLINICAL IMPORTANCE: To the authors' knowledge, this report describes the Ist case of myotonia in an Australian Cattle Dog and represents the 1st non-Schnauzer canine myotonia to be genetically characterized. In addition, we developed a polymerase chain reaction-based genetic screen to detect heterozygotes with this mutation in the at-large Australian Cattle Dog population.     

Congenital and acquired neuromuscular disease of young dogs and cats

Neuromuscular disorders in small animals include a diverse group of congenital and acquired diseases. The prognosis will vary according to the disorder and the portion of the motor unit affected. A number of diseases might be satisfactorily treated (for example, myasthenia gravis, congenital myotonia), whereas others may be self-limiting (for example, hereditary myopathy of Labrador Retrievers). Accurate diagnosis is necessary for establishing a prognosis and treatment plan suitable to the patient and client. Specific diagnosis in the absence of specialized tests is difficult, although not always impossible (for example, congenital myotonia in the Chow Chow). A knowledge of the neuromuscular diseases that might affect small animals, a detailed history, and a thorough physical examination will help in the presumptive diagnosis. Specialized laboratory examinations may need to be applied (for example, antiacetylcholine receptor antibody titer for acquired myasthenia gravis). Referral may be necessary for more detailed diagnostic workup (for example, electromyographic examination, nerve or muscle biopsy examination). In the case of inherited neuromuscular disorders, a knowledge of inheritance patterns will allow genetic counseling to avoid future problem breedings.     

Congenital diseases of feline muscle and neuromuscular junction

Although muscle diseases occur relatively rarely in cats, a number of congenital feline myopathies have been described over the last 20 years and are reviewed in this paper. Some of them have been reported exclusively in specific breeds, including the hypokalaemic myopathy of Burmese cats, type IV glycogen storage disease in Norwegian Forest cats, or the myopathy of Devon Rex. Other congenital disorders of muscle and neuromuscular junction such as myotonia congenita, dystrophin-deficient hypertrophic feline muscular dystrophy, laminin alpha2 deficiency, or congenital myasthenia gravis may occur in any cat. A systematic approach is essential in order to efficiently obtain a timely diagnosis in cats showing signs of muscle disease. After a thorough clinical examination, this approach includes blood analyses (eg, serum concentration of muscle enzymes), electrophysiology where available (electromyography, nerve conduction studies), and sampling of muscle biopsies for histological, histochemical and immunohistochemical evaluation. When available, detection of healthy carriers of these genetic disorders is important to eliminate the gene mutations from breeding families. Clinicians regularly receiving feline patients must have a good knowledge of congenital feline myopathies and the features which enable a diagnosis to be made and prognosis given. Besides preserving or restoring the well-being of the myopathic patient, rapid and efficient information and counselling of the breeders are of central importance in order to prevent the recurrence of the problem in specific breeding lines.     

Myotonia in a chow chow

Congenital myotonia was diagnosed in an inbred Chow Chow pup with severe muscle stiffness that regressed with exercise. Voluntary movement, percussion, or needle insertion caused sustained contraction of the muscles involved. Electromyographic recordings from several muscles contained myotonic discharges. Creatine kinase activity was mildly increased. Slight myofiber hypertrophy and a few atrophic fibers were seen in muscle biopsy specimens. Treatment of the pup with procainamide caused a marked decrease in clinical signs. Myotonia congenita in the Chow Chow appears to be inherited as an autosomal recessive trait. This condition can be diagnosed on the basis of clinical signs. Satisfactory clinical management of myotonia congenita can be achieved with procainamide.     

Myotonia associated with hyper-adrenocorticism in two dogs

Two dogs developed a disabling gait abnormality characterised by stiffness. The abnormality was consistent with a diagnosis of myotonia secondary to hyper-adrenocorticism. The first dog had iatrogenic hyperadrenocorticism, and its signs improved substantially after corticosteroid administration was gradually withdrawn. The second had pituitary-dependent hyperadrenocorticism, but myotonic signs progressed despite effective mitotane therapy. Procainamide administration reduced the myotonic stiffness in the second case.     

Dental and craniofacial findings in eight miniature schnauzer dogs affected by myotonia congenita: preliminary results

Myotonia is a clinical sign characterized by the delay of skeletal muscle relaxation following the cessation of a voluntary activity or the termination of an electrical or mechanical stimulus. Recently, Miniature Schnauzers with myotonia congenita associated with defective chloride ion conductance across the skeletal muscle membrane were identified. Congenital myotonia in these dogs appears to follow an autosomal recessive mode of inheritance. Craniofacial and dental findings of eight Miniature Schnauzer dogs with myotonia congenita are described in the present paper. These findings include: delayed dental eruption of both deciduous and permanent dentition: persistent deciduous dentition; unerupted or partially erupted permanent teeth: crowding and rotation of premolar and or incisor teeth: missing teeth: increased interproximal space between the maxillary fourth premolar and first molar teeth: decreased interproximal space between the maxillary canine and lateral incisor teeth: inability to fully close the mouth due to malocclusion: distoclusion: and, decreased mandibular range of motion. A long narrow skull with a flattened zygomatic arch and greater mandibular body curvature were also consistent findings in the affected dogs. The small number of dogs studied prevents conclusive statements about the origin of these abnormalities, however it is interesting that only 1 of 45 unaffected Miniature Schnauzer dogs showed similar traits.     

Pharyngeal polyps in two feline siblings

Pharyngeal polyps were diagnosed in 2 sibling kittens referred for evaluation of chronic upper respiratory tract disease. Surgical excision of the masses was performed in both kittens after skull radiography and oral examination. One kitten had a recurrence of pharyngeal polyps 5 weeks after surgery and was euthanatized and necropsied. The clinical and histologic findings in these 2 cases suggested a congenital origin of this disease.     

Congenital tarsal hyperextension in three cats

CASE DESCRIPTION: 3 kittens were examined because of a malformation affecting the hind limbs, resulting in an inability to bear weight or ambulate normally. CLINICAL FINDINGS: 2 kittens were younger than 6 weeks of age, and 1 was 4 months of age at the time of initial examination. The congenital abnormality was characterized by severe tarsal hyperextension in which weight was borne on the cranial aspect of the tarsus, and the plantar surface of the metatarsus faced dorsally. In 2 kittens, the condition affected both hind limbs, and in the older kitten, the condition was unilateral. In the 2 kittens in which radiographs were obtained, no bone abnormalities were detected. Full-cylinder fiberglass casts were applied and changed weekly to accommodate growth. Owners administered physical therapy after final cast removal. TREATMENT AND OUTCOME: Conservative management involving external coaptation and physical therapy led to favorable results in all 3 cats. CLINICAL RELEVANCE: Although further studies are needed to determine the etiology of the disorder, affected kittens may be successfully treated with conservative management. Owners should be committed to the necessity for returning cats for serial cast changes, care for pressure sores, and administration of physical therapy after cast removal.     

The efficacy of a Giardia lamblia vaccine in kittens.

Twenty kittens were vaccinated with a Giardia lamblia vaccine prepared on a commercial scale on day 0 and boosted on day 21 (group 1); while 10 kittens received only saline (group 2). These kittens were challenged on day 35 with 10(6) Giardia lamblia trophozoites by a surgical intraduodenal injection. Three control kittens were not vaccinated and not challenged (group 3). Following challenge, Giardia vaccinated kittens had significantly fewer days in which abnormal stools were observed and reduced food intake occurred compared to saline injected animals. The rate of weight gain between group 1 and group 2 animals was not different in the prechallenge period (day 0 to day 35), but vaccinated animals had a significantly higher weight gain in the postchallenge period (P < 0.05). On day 56, all vaccinated animals were not passing cysts in their feces, while 40% of saline injected kittens had Giardia cysts in their feces. In vaccinated kittens, cysts were never demonstrated in 45% of the animals, while cysts were detected in 90% of the saline injected kittens. Viability of the cysts in vaccinated kittens was 38% while the cysts viability in saline injected kittens was 99%. On postmortem examination, trophozoites could be detected in 5% of vaccinated kittens and 60% of saline injected kittens. Vaccination produced an elevated Giardia specific serum IgG and IgA response prior to challenge and throughout the postinfection period. The Giardia infection in the saline injected group did not induce an elevated specific serum response. Giardia vaccination of kittens provides protection in kittens from an experimental challenge by reducing or eliminating intestinal trophozoites and fecal cyst excretion.     

Three cases of local tetanus

Unyielding rigidity of one thoracic limb due to continuous involuntary muscle spasm was seen as the presenting complaint in two cats and a dog. A distal forelimb injury on the affected limb preceded the development of clinical signs in two animals. No abnormalities were detected in a detailed histological examination of the first case. The continuous localised muscular spasm subsided completely over a prolonged period in the remaining two cases. These findings strongly suggest a diagnosis of local tetanus. The diagnosis and treatment of this rare condition are discussed.     

Attempted transmission of Toxoplasma gondii infection from pregnant cats to their kittens

Sixteen 1- to 7-week-old pregnant specific-pathogen free cats were inoculated orally with Toxoplasma gondii cysts. Fetuses and neonatal kittens were examined for toxoplasma infection by inoculating suspensions of their tissues into mice. Toxoplasma gondii was not isolated from 23 fetuses and 16 newborn kittens from 13 queens. Six (3 litters) of the 15 kittens from the 3 remaining queens were killed on the day of or a day after birth, and the remaining 9 kittens were housed with their mothers for 7 to 33 days. None of the 9 kittens from the 2 litters examined between 0 and 33 days of age was infected with T gondii. In the other litter, T gondii was isolated from 3 kittens killed at 9, 16, and 22 days of age but not from 3 littermates killed on days 1, 1, and 22. Internal organs from the 3 kittens with proved toxoplasma infectivity in mice were examined histologically. Multifocal granulomatous encephalitis, hepatitis, nephritis, myocarditis, myositis, and interstitial pneumonia were found in all 3 kittens. Toxoplasma forms were demonstrated histologically in the tissues of 2 of these kittens. The mode of toxoplasma infection in newborn kittens was not determined but did not appear to be either transplacental or via fecal contamination from oocysts excreted by the mother cat. Evidence obtained in these experiments suggests that transplacental toxoplasma infection in the cat is not an important epidemiologic factor in perpetuation of the disease in the feline population.     

Effect of phenytoin on the clinical signs and in vitro muscle twitch characteristics in horses with chronic intermittent rhabdomyolysis and myotonia

In vitro twitch characteristics of the semimembranosus muscle were evaluated in 9 clinically normal horses, in 15 horses with chronic intermittent rhabdomyolysis (CIR) and in 2 horses with myotonia. Effects of phenytoin on in vitro muscle twitch and clinical signs of CIR and myotonia were evaluated in these same horses. Times to 90% relaxation were prolonged in the horses with CIR (mean +/- SEM, 186 +/- 5.9 ms) and in 2 horses with myotonia (197 and 177 ms) compared with those in clinically normal horses (mean +/- SEM, 146 +/- 2.1 ms). Horses with CIR also had significantly (P less than 0.05) longer times to 50% relaxation, compared with clinically normal horses. In the group of horses with CIR, Standardbreds had significantly (P less than 0.05) longer times to 90% and 50% relaxation, compared with Thoroughbreds. Times to 100% peak tension did not differ among the groups. Administration of phenytoin directly into a muscle preparation bath solution had no effect on muscle twitch properties. After the initial muscle biopsy, phenytoin was administered orally for 7 to 10 days to 4 horses with CIR, 2 myotonic horses, and 2 clinically normal horses before repeat biopsy from the same site in the contralateral semimembranosus muscle. Times to 90% relaxation decreased from 197 and 177 ms to 144 and 126 ms, respectively, in the 2 myotonic horses, from a mean of 192 (+/- 9) ms to 170 (+/- 9) ms in the 4 horses with CIR and remained unchanged (154 and 140 ms before vs 155 and 139 ms after treatment) in the 2 clinically normal horses.(ABSTRACT TRUNCATED AT 250 WORDS)     

Myotonia and disorders of altered muscle cell membrane excitability.

Altered excitability of the skeletal muscle membrane (sarcolemma) can result in clinical signs of muscle dysfunction. Hyperexcitability of the sarcolemma results in myotonia, and hypoexcitability results in paresis or paralysis. Our understanding of the physiologic and molecular bases of disorders of sarcolemmal excitability is rapidly increasing as techniques for evaluation are improved. This article reviews muscle excitability disorders in dogs and cats and their pathogenesis.     

Kitten mortality in the United Kingdom: a retrospective analysis of 274 histopathological examinations (1986 to 2000)

The postmortem findings in 274 kittens were reviewed. The kittens were grouped by age at death: perinatal (< one day), neonatal (one to 14 days), preweaning (15 to 34 days) and postweaning (35 to 112 days); 203 (74 per cent) of the kittens were postweaning and 38 (14 per cent) were preweaning. Infectious disease was identified in 55 per cent of the kittens, and 71 per cent of the infectious disease was viral and detected significantly more frequently in rescue shelter kittens than in kittens from private homes. Twenty-five per cent of all kitten mortality was due to feline parvovirus (FPV). During the neonatal and preweaning periods, the main viral infections were feline herpesvirus and calicivirus. Feline infectious peritonitis caused the death of 17 kittens in the postweaning period. The rescue shelter kittens were significantly younger than the kittens from private homes (median survival 49 and 56 days) and were more likely to have FPV. The non-pedigree kittens were significantly younger than the pedigree kittens (42 v 56 days), and the pedigree kittens were significantly less likely to originate from rescue shelters. There was no significant difference between the age distribution of the male and female kittens. No diagnosis could be found in 33 per cent of the kittens, and this failure was correlated significantly with the submission of tissue samples as opposed to the whole carcase.     

Opinions of veterinarians about the age at which kittens should be neutered

The mean age recommended by veterinary practices for neutering kittens is 22.6 weeks, with only 28 per cent of veterinarians considering it appropriate to neuter 12- to 16-week-old kittens. Multivariable logistic regression was used to identify variables associated with veterinarians' opinion that 12 to 16 weeks is an appropriate age at which to neuter kittens. Significant risk factors included time since graduation, perception of the problem of there being too many unwanted domestic cats and their practice's policy on the recommended neutering age. Veterinarians who thought that neutering eight- to 11-week-old rescue kittens before homing was justified and veterinarians who had neutered 12- to 16-week-old domestic kittens within the previous year were more likely to consider that neutering 12- to 16-week-old kittens was appropriate. Veterinarians who thought that surgical complications, anaesthetic complications and lower urinary tract disease were, or might be, more likely to occur in kittens neutered at 12 to 16 weeks than in those neutered at six months of age, were significantly less likely to think that neutering 12- to 16-week-old kittens was appropriate.     

Accumulation of mercury and selenium in tissues of kittens fed commercial cat food

Six kittens, three males and three females, were fed exclusively for one hundred days a commercially canned red meat tuna found to contain elevated concentrations of Mercury (Hg) and Selenium (Se). A similarly sized control group was fed for the same period a dry commercial cat food comparatively low in the concentration of these elements. At the end of the feeding trial, concentrations of Hg Se were markedly higher in blood, bone, brain, kidney, liver, muscle and spleen of the kittens fed the tuna diet as compared to the corresponding controls. No behavioral abnormalities or pathological lesions were detected in any of the kittens.