Nemaline myopathy in a six-month-old Pomeranian dog.

ABSTRACT: Nemaline myopathy - a clinically and genetically complex heterogenous group of disorders - is described uncommonly in humans and rarely in animals, and is characterised by progressive muscle weakness. The diagnosis is confirmed by histological and/or ultrastructural identification of subsarcolemmal, thread-like, rod-shaped structures called nemaline rod bodies within more than 40% of skeletal muscle fibres. These rods contain the Z-line protein, α-actinin, that can be effectively stained in skeletal muscles using Gomori or Masson trichrome and negatively stained with periodic acid-Schiff. Similar rod-like bodies have been found in smaller numbers in dogs with endocrine disorders and occasionally in other conditions in humans. This report is of a six-monthold Pomeranian dog which had progressive exercise intolerance over a two-month period associated with severe disuse muscle atrophy of the thoracic limbs, as well as gradual pelvic limb weakness and regurgitation of food. Baseline diagnostics ruled out endocrinopathies and after histological and ultrastructural evaluation of thoracic limb muscles and nerve biopsies confirmed nemaline myopathy. The clinical course, diagnostic test results, ultrastructure of skeletal muscle and peripheral nerve, gross necropsy findings and histopathology using various stains are described and illustrated.

Acupuncture for Anaemia and Large Intestine Impaction Associated with Hind Limb Weakness in a Horse: A Case Report.

A 24-year-old horse was presented with a clinical history of anaemia, large intestine impaction and hind limb weakness. Loss of body weight was also reported. Hematocrit and hemoglobin levels were low and piroplasmosis test was negative. Nasogastric intubation with laxative agents was performed and 50 ml of a red blood-cell-supplement was given daily during a month. An assessment following Traditional Chinese Veterinary Medicine (TCVM) principles was performed after the last episode of large intestine impaction. A swollen, pale and wet tongue was observed. A superficial, weak pulse combined punctually with a slippery pulse was detected on the right side. The pulse on the left side was very thin. BL18, BL20 and BL23 were the most sensitive acupoints on the right side. BL18 and BL23 were the most sensitive on the left. TCVM diagnosis was Qi/Yang Kidney Deficiency, Spleen Qi Deficiency with Stagnation and Blood Deficiency. It received acupuncture at Bai-Hui, KI3, KI7, KI10, BL23, GB39, ST36, BL17 and acupressure at SP10. The client reported a significant improvement after treatment and hematocrit and hemoglobin levels were normal. KI3, ST36, BL39 acupoints were treated 14 days later. The outcome was favourable and one acupuncture session per month was recommended. No previous case reports in equines have been documented with a combination of blood, gastrointestinal and musculoskeletal problems in the same episode. This case is an example of an integrative approach to investigate the origin and the interdependent relation between body systems.

Polimiopatia hipocalêmica e hipertensão secundária a hiperaldosteronismo primário felino / Hypokalemic polymyopathy and secondary hypertension to feline primary hyperaldosteronism

O hiperaldosteronismo se define pela hipersecreção de aldosterona pelas suprarrenais, resultando em excesso de sódio e redução de potássio sanguíneo. Esta hipersecreção deve-se à síntese autônoma de aldosterona por células adrenais hiperplásicas ou neoplásicas, que agem independentemente da estimulação pelo sistema renina-angiotensina. A doença acomete felinos de adultos maduros a idosos. O excesso de aldosterona culmina em hipertensão sistêmica e/ou hipocalemia, que levam à fraqueza muscular e alterações oculares. O diagnóstico é baseado em exames laboratoriais e de imagem, e o tratamento pode ser clínico ou cirúrgico. O prognóstico é considerado favorável quando as medicações são capazes de melhorar as manifestações clínicas ou quando é possível realizar o procedimento cirúrgico. O presente trabalho visa relatar o caso de um felino macho de 13 anos, castrado, sem raça definida, com hipocalemia persistente secundária a um presuntivo tumor adrenal.

Hyperaldosteronism is defined by the hypersecretion of aldosterone by the adrenal glands resulting in excess sodium and reduced blood potassium. This hypersecretion is due to the autonomous synthesis of aldosterone by hyperplastic or neoplastic adrenal cells, which act independently of stimulation by the renin-angiotensin system. The disease affects felines in the age group from mature adults to the elderly. The excess of aldosterone culminates in systemic hypertension and/or hypokalemia, which leads to muscle weakness and ocular changes. The diagnosis is based on laboratory and imaging tests and treatment can be clinical or surgical. The prognosis is considered favorable when the medications are able to improve the clinical manifestations or when it is possible to perform the surgical procedure. The present paper aims to report the case of a 13-year-old male cat, castrated, crossbred, with persistent hypokalemia secondary to a presumptive adrenal tumor.

Investigation of stillbirths, perinatal mortality and weakness in beef calves with low-selenium whole blood concentrations.

In this on-farm investigation, we report on stillbirths, weakness and perinatal mortality seen in calves on a commercial beef farm in the Roossenekal area, Mpumalanga province, South Africa. Post-mortem examination of these calves and histopathological examination of organ and tissue samples did not indicate an infectious aetiology. Affected calves had marginal to deficient whole blood selenium concentrations. Whole blood samples collected from adult cattle on this farm and five neighbouring farms were deficient in selenium. The potential contributions of other minerals to the symptoms seen are a subject of ongoing investigation, but selenium deficiency was marked in this herd and required urgent correction. Methods to correct the deficiency included the use of injectable products, and an oral selenium supplement chelated to methionine. Selenium availability to plants is primarily determined by the selenium content of the parent bedrock, the presence of other minerals and the pH of the soil. The apparent sudden onset of this problem implicates a soil factor as being responsible for reducing selenium's bioavailability in this area. Selenium deficiency can have a significant impact on human health. HIV and/or AIDS, various forms of cancer and several specific clinical syndromes are associated with selenium deficiency in humans, and the impact on human health in this area also requires further investigation.

Ocorrência do SNP c.767G>T no gene DNM1responsável pelo colapso induzido pelo exercício em cães da raça Labrador Retriever no estado de São Paulo / Occurrence of DNM1 SNP c.767G>T responsible for exercise-induced collapse in Labrador Retriever in the Sao Paulo state

O colapso induzido pelo exercício (EIC) é considerado uma síndrome autossômica recessiva que afeta principalmente cães da raça Labrador Retriever. A doença é caracterizada por fraqueza muscular e colapso após exercício intenso. Usualmente, ocorre recuperação clínica após o episódio, mas alguns animais podem vir a óbito. Os sinais clínicos são decorrentes do polimorfismo de base única (SNP) c.767G>T no gene Dynamin 1 (DNM1). O objetivo deste trabalho foi determinar a ocorrência deste SNP em 321 cães da raça Labrador Retriever do Estado de São Paulo. Primers específicos para a amplificação de todo o exon 6 do gene DNM1 foram usados nas PCRs utilizando DNA a partir de amostras de sangue ou swab bucal, a avaliação final foi realizada com sequenciamento direto dos produtos da PCR. Dentre os 321 animais estudados, 3,4 % (11/321) eram homozigotos para o SNP c.767G>T no gene DNM1 e 24,6% (79/321) eram heterozigotos. Somente um dos 11 animais homozigotos apresentavam sinais clínicos compatíveis com a EIC. Este é o primeiro estudo sobre a ocorrência deste SNP no Brasil e considerando que quase 25% dos animais estudados eram heterozigotos, a genotipagem dos animais para este SNP pode ser importante antes dos acasalamentos para cães desta raça. A EIC deve ser considerada nos diagnósticos diferenciais de enfermidades neuromusculares em cães da raça Labrador Retriever.

The exercise-induced collapse (EIC) is considered an autosomal recessive syndrome that mainly affects Labrador Retriever dogs. The disease is characterized by muscle weakness and collapse after intense exercise. Recovery usually occurs after exercise but some animals may die. The clinical signs occurs due to the single-nucleotide polymorphism (SNP) c.767G>T in Dynamin 1 (DNM1) gene. The aim of this study was to evaluate the occurrence of this SNP in 321 Labrador Retriever dogs from São Paulo state. Specific primers for amplification of the entire exon 6 of the DNM1 gene were used in a PCR performed with DNA from blood or buccal swab samples, direct sequencing was performed for the final evaluation. Among 321 animals studied, 3.4% (11/321) of animals were homozygous for the DNM1 SNP (c.767G>T) and 24.6% (79/321) were heterozygous. Only one of the 11 homozygous animals in this study had previous clinical signs compatible with this disease. This is the first study that evaluated the occurrence of DNM1 SNP (c.767G>T) gene in Brazil and considering that almost 25% of the studied animals were heterozygous, the routinely evaluation of this SNP may be important before this breed mating The EIC should be include in the differential diagnosis of neuromuscular diseases in Labrador Retriever dogs.

Molybdenum deprivation, purine ingestion and an astrocyte-associated motor neurone syndrome in sheep: assumed clinical effects of inosine.

BACKGROUND: An astrocyte-associated motor neurone syndrome was produced in molybdenum-deprived sheep fed xanthosine. Mo-deprived sheep fed inosine, adenosine or guanosine would be also expected to develop astrocyte-associated motor neurone syndromes, because all these purine nucleosides can act as neuromodulators and all depend on the Mo-associated enzyme xanthine oxidase-dehydrogenase for their catabolism. DESIGN: To investigate the relationship between inosine ingestion and low Mo concentration, eight sheep were fed lucerne chaff with a Mo value <0.10 ppm and the Mo antagonist, sodium tungstate, for 21 weeks, with inosine (35 mg/kg/day) fed for the last 18 of these weeks. This clinical study was uncontrolled. RESULTS: An astrocyte-associated motor neurone syndrome was produced in three sheep 18-27 months later. It was characterised by diaphragmatic, laryngeal, lingual and pharyngeal muscle weakness. The diaphragmatic muscle weakness was the most severe and potentially lethal. CONCLUSION: These findings suggest that purinergic neuromodulation of respiration, vocalisation and swallowing is different to that of limb movement. The syndrome produced, and assumed to be caused by the treatment given, has not been reported in livestock. A similar syndrome is seen in human motor neurone disease, but not in equine motor neurone disease, and this is consistent with it being an upper, not a lower, motor neurone effect.

Adverse events associated with chloramphenicol use in dogs: a retrospective study (2007-2013).

Chloramphenicol is a broad spectrum antibiotic that has been increasingly utilised since the emergence of methicillin-resistant staphylococcal infections. Due to toxicities in humans, use of the drug has been limited. In dogs, gastrointestinal signs are common adverse events described, and bone marrow suppression is possible. The aim of this study was to evaluate the adverse events associated with chloramphenicol in dogs seen by one specialty practice from January 2007 through June 2013. The database was searched for all dogs prescribed chloramphenicol during the time period. Dosage, length of treatment, age and body weight of the dogs were recorded as well as any adverse events that occurred during treatment. A total of 105 cases were evaluated. Thirty-nine dogs experienced at least one adverse event while on the medication. The most commonly noted were gastrointestinal signs and hindlimb weakness. The mean body weight for dogs with hindlimb weakness was 35.3 kg, which was significant. Resolution was documented in 54 per cent of cases when the drug was discontinued. Methicillin-resistant Staphylococcus pseudintermedius on bacterial culture was listed as the reason for chloramphenicol use in 76 per cent of the cases. Based on this information, further prospective studies are recommended to evaluate the reproducibility of this report.

Clinical features, outcome and prognostic factors in dogs diagnosed with non-cortisol-secreting adrenal tumours without adrenalectomy: 20 cases (1994-2009).

The aims of this study were to describe the clinical features, the outcome and the prognostic factors of dogs with non-cortisol-secreting adrenal masses without adrenalectomy, and also to provide clinical data that can be useful for making decisions when managing dogs with these types of neoplasms. Medical records from 1994 to 2009 were reviewed and 20 dogs were included in the study. The results showed that mean age at diagnosis for dogs with non-cortisol-secreting adrenal masses was 12 years with no sex predisposition. Most dogs were asymptomatic. The most frequent clinical signs, when present, were lethargy, weakness and hypertension. Radiological evidence of metastases at diagnosis was not frequent. The maximal dorso-ventral thickness of the adrenal mass ranged from 10.0 to 45.0 mm. Right adrenal gland masses were more frequent than left-sided. Hypertension was found to be related to tumour growth during follow-up. The median survival time of dogs with non-cortisol-secreting tumours was 17.8 months. Body weight at diagnosis, tumour size and the presence of metastases at diagnosis were inversely related to survival. In conclusion, survival of dogs with non-cortisol-secreting adrenal tumours without adrenalectomy is relatively high and comparable with that of dogs treated with adrenalectomy. Dogs with metastasis and large adrenal tumours have a poorer prognosis. Hypertension is related to tumour growth, and might be used as an additional tool to assess the potential growing capacity of the tumour.

Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome.

We identified an IARS (isoleucyl-tRNA synthetase) c.235G>C (p.Val79Leu) substitution as the causative mutation for neonatal weakness with intrauterine growth retardation (perinatal weak calf syndrome). In Japanese Black cattle, the syndrome was frequently found in calves sired by Bull A. Hence, we employed homozygosity mapping and linkage analysis. In order to identify the perinatal weak calf syndrome locus in a 4.04-Mb region of BTA 8, we analysed a paternal half-sibling family with a BovineSNP50 BeadChip and microsatellites. In this critical region, we performed exome sequencing to identify a causative mutation. Three variants were detected as possible candidates for causative mutations that were predicted to disrupt the protein function, including a G>C (p.Val79Leu) mutation in IARS c.235. The IARS c.235G>C mutation was not a homozygous risk allele in the 36 healthy offspring of Bull A. Moreover, the IARS Val79 residue and its flanking regions were evolutionarily and highly conserved. The IARS mutant (Leu79) had decreased aminoacylation activity. Additionally, the homozygous mutation was not found in any of 1526 healthy cattle. Therefore, we concluded that the IARS c.235G>C mutation was the cause of hereditary perinatal weak calf syndrome.

Experimental poisoning by Baccharis megapotamica var. weirii in buffalo / Intoxicação experimental por Baccharis megapotamica var. weirii em búfalos

Five male 6-8 month-old Murrah buffalo calves were orally dosed with the fresh aerial parts of Baccharis megapotamica var. weirii at doses of 1, 3, 4, 5 and 10g/kg body weight (bw) (~1-10mg macrocyclic trichothecenes/kg/bw). The B. megapotamica used for the experiment was harvested on a farm where a recent spontaneous outbreak of poisoning caused by such plant had occurred. Clinical signs appeared 4-20 hours and 4 buffaloes died 18-49 hours after the ingestion of the plant. Clinical signs were apathy, anorexia, and watery diarrhea, fever, colic, drooling, muscle tremors, restlessness, laborious breathing and ruminal atony, and dehydration. The most consistent gross findings were restricted to the gastrointestinal (GI) tract consisted of varying degrees of edema and reddening of the mucosa of the forestomach. Histopathological findings consisted of varying degrees of necrosis of the epithelial lining of the forestomach and of lymphocytes within lymphoid organs and aggregates. Fibrin thrombi were consistently found in sub-mucosal vessels of the forestomach and in the lumen of hepatic sinusoids. It is suggested that dehydration, septicemia and disseminated intravascular coagulation participate in the pathogenesis of the intoxication and play a role as a cause of death. A subsample of B. megapotamica var. weirii was frozen-dried and ground and analyzed using UHPLC (Ultra High Performance Liquid Chromatography) with high resolution Time of Flight mass spectrometry and tandem mass spectrometry, it was shown that the plant material contained at least 51 different macrocyclic trichothecenes at a total level of 1.1-1.2mg/g. About 15-20% of the total trichothecenes contents was found to be monosaccharide conjugates, with two thirds of these being glucose conjugates and one third constituted by six aldopentose conjugates (probably xylose), which has never been reported in the literature.

As partes aéreas verdes de Baccharis megapotamica var. weirii foram administradas oralmente a cinco búfalos da raça Murrah de 6-8 meses de idade nas doses de 1, 3, 4, 5 e 10g/kg de peso corporal (pc) (~1-10mg de tricotecenos macrocíclicos/kg/pc). A planta usada no experimento foi colhida numa fazenda onde um surto recente de intoxicação espontânea por essa planta havia ocorrido. Nos búfalos deste experimento, os sinais clínicos apareceram 4-20 horas e 4 búfalos morreram 18-49 horas após a ingestão da planta. Os sinais clínicos consistiram de apatia, anorexia, diarreia aquosa, febre, cólica, salivação, tremores musculares, inquietação, respiração laboriosa, atonia ruminal e desidratação. Os achados macroscópicos mais consistentes estavam restritos ao trato gastrointestinal (GI) e consistiram de graus variados de edema e avermelhamento da mucosa dos pré-estômagos. Os achados histopatológicos consistiam de vários graus de necrose do epitélio de revestimento dos pré-estômagos e de linfócitos em agregados e órgãos linfoides. Trombos de fibrina foram consistentemente encontrados nos vasos da submucosa dos pré-estômagos e na luz dos sinusoides hepáticos. É sugerido que desidratação, septicemia e coagulação intravascular disseminada participem da patogênese da intoxicação e sejam fatores responsáveis pela morte dos animais afetados pela intoxicação. Uma subamostra de B. megapotamica var. weirii foi congelada a seco, moída e analisada usando UHPLC (Cromatografia Líquida de Ultra Alta Performance) com espectrometria de tempo-de-vôo de alta resolução e espectrometria de massa em tandem. Foi demonstrado que o material de planta analisado continha pelo menos 51 tricotecenos macrocíclicos diferentes num nível total de 1,1-1,2mg/g. Cerca de 15-20% do conteúdo total de tricotecenos eram conjugados de monossacarídeos, sendo dois terços desses, conjugados de glicose e um terço constituídos por seis conjugados de aldopentose (provavelmente xilose), o que nunca tinha sido antes relatado na literatura.

Genotyping of exercise-induced collapse in Labrador retrievers using an allele-specific PCR.

Exercise-induced collapse (EIC) is an autosomal recessive disorder in Labrador retrievers. In this study, an allele-specific PCR was developed to detect the point mutation G767T in exon 6 of canine DNM1, previously shown to be responsible for canine EIC. Of 133 Labrador retrievers tested in Japan, 6 (4.5%) were homozygous (EIC) and 50 (37.6%) were heterozygous (carriers) for the G767T mutation.

Presence and impact of the exercise-induced collapse associated DNM1 mutation in Labrador retrievers and other breeds.

The impact of the mutation causing dynamin 1 (DNM1)-associated exercise-induced collapse (d-EIC) was determined in a retrospective genetic survey. The frequency of DNM1 mutant allele carriers in Labrador retrievers from conformation show, field trial/hunt test, pet or service lines ranged from 17.9% to 38.0% and the frequency of homozygous mutant (EE genotype) individuals ranged from 1.8% to 13.6%; 83.6% of these EE Labradors were reported to have collapsed by 4 years of age. DNM1 mutation carriers and EE dogs with a collapse phenotype were also detected in Chesapeake Bay retrievers, Curly-coated retrievers, Boykin spaniels, Pembroke Welsh corgis and mixed breed dogs thought to be Labrador retriever crosses. The DNM1 mutation was not identified in Golden, Flat-coated, or Nova Scotia duck tolling retrievers, or 15 other non-retrieving breeds. Veterinarians and breeders should be aware that the DNM1 EE genotype is not completely penetrant and that d-EIC is a widespread health concern in several very popular breeds, as well as breeds whose genetic similarity to retrievers is not obvious.

A retrospective study of 153 cases of undiagnosed collapse, syncope or exercise intolerance: the outcomes.

OBJECTIVES: To retrospectively assess the long-term outcome for dogs that were presented with collapse, syncope or exercise intolerance for which an underlying cause is not identified. METHODS: The clinical records of animals presenting to two practices were assessed. Dogs which presented for collapse, syncope or exercise intolerance at least 6 months previously and did not receive a definitive diagnosis despite investigation were included. Follow-up of these cases was carried out by conducting telephone interviews with the owners. RESULTS: One hundred and fifty-three cases were successfully followed up. Clinical signs had resolved in 64 cases (42%), 35 dogs (23%) were continuing to exhibit clinical signs, although 22 of these had improved without medical intervention. In 17 cases (11%), a diagnosis had subsequently been made or treatment was being administered and 37 dogs (24%) had died. Of the deaths, 18 (12%) were considered to be related to the original presentation. The overall prevalence of death and deterioration related to the problems investigated was 16·2% of cases. Death in boxers was significantly more common than in other breeds (36%). CLINICAL SIGNIFICANCE: Death and deterioration are uncommon outcomes for dogs other than boxers presenting with collapse, syncope and exercise intolerance for which a definitive diagnosis cannot be made.

Experimental oral transmission of chronic wasting disease to red deer (Cervus elaphus elaphus): early detection and late stage distribution of protease-resistant prion protein.

Chronic wasting disease (CWD), an important emerging prion disease of cervids, is readily transmitted by intracerebral or oral inoculation from deer-to-deer and elk-to-elk, suggesting the latter is a natural route of exposure. Studies of host range susceptibility to oral infection, particularly of those species found in habitats where CWD currently exists are imperative. This report describes the experimental transmission of CWD to red deer following oral inoculation with infectious CWD material of elk origin. At 18 to 20 months post-inoculation, mild to moderate neurological signs and weight loss were observed and animals were euthanized and tested using 3 conventional immunological assays. The data indicate that red deer are susceptible to oral challenge and that tissues currently used for CWD diagnosis show strong abnormal prion (PrP(CWD)) accumulation. Widespread peripheral PrP(CWD) deposition involves lymphoreticular tissues, endocrine tissues, and cardiac muscle and suggests a potential source of prion infectivity, a means of horizontal transmission and carrier state.

Retrospective analysis of an implantable loop recorder for evaluation of syncope, collapse, or intermittent weakness in 23 dogs (2004-2008).

OBJECTIVES: Cardiac arrhythmias as a cause of syncope, collapse, or intermittent weakness can be challenging to diagnose. The purpose of this paper is to retrospectively review the diagnosis and outcome of 23 cases of syncope or collapse in dogs that had a Reveal Plus ILR recorder placed as part of the diagnostic evaluation. ANIMALS, MATERIALS AND METHODS: Medical records of 23 client-owned dogs that were presented for evaluation of syncope, collapse, or intermittent weakness were retrospectively reviewed. RESULTS: Recurrent syncope occurred in 13/23 (57%) and a positive diagnosis of the cause of the event was made in 11/13 (48% of all dogs). Diagnoses included 6/11 with prolonged periods of sinus arrest with slow ventricular escape rate and one each of sub-optimal fixed heart rate by endocardial pacing, high grade second degree atrioventricular block, supraventricular tachycardia, normal ECG during multiple episodes, and high grade second degree atrioventricular block or sinus arrest. CONCLUSIONS: The Reveal Plus ILR device was successful in diagnosing a high percentage of cases of syncope or collapse in which signs recurred and implantation had a low complication rate. The Reveal Plus ILR device is a useful tool to diagnose the etiology of recurrent syncope, collapse, or intermittent weakness in the dog.

Identification of genetic markers associated with fatness and leg weakness traits in the pig.

Pigs have undergone long-term selection in commercial conditions for improved rate and efficiency of lean gain. Interestingly, it has been observed in both experimental and field conditions that leg weakness has increased over time, concurrent with the selection for improved rate of lean gain, while fatter animals tend to have better leg action, and foot and leg (FL) structure. The exact molecular mechanisms or individual genes responsible for this apparent genetic correlation between fatness and leg weakness and other physical adaptability traits have been less well reported. Based on our recent studies involving candidate genes and leg weakness traits, the present investigation has identified 30 SNPs from 26 genes that were found to be associated with 10th rib backfat in a sow population consisting of 2066 animals. The specific alleles associated with increased backfat tended to be associated with better overall leg action, as shown for the genes including MTHFR, WNT2, APOE, BMP8, GNRHR and OXTR, while inconsistent associations with the single FL structure trait and backfat were observed for other genes. This study suggests that in some cases there may be a common genetic mechanism or linked genes regulating fatness and leg weakness. Such relationships are clearly complex, and the utilization of genetic markers associated with both traits should be treated cautiously.

Identification of candidate genes for congenital splay leg in piglets by alternative analysis of DNA microarray data.

The congenital splay leg syndrome in piglets is characterized by a temporarily impaired functionality of the hind leg muscles immediately after birth. Etiology and pathogenetic mechanisms for the disease are still not well understood. We compared genome wide gene expression of three hind leg muscles (M. adductores, M. gracilis and M. sartorius) between affected piglets and their healthy littermates with the GeneChip Porcine Genome Array (Affymetrix) in order to identify candidate genes for the disease. Data analysis with standard algorithms revealed no significant differences between both groups. By application of an alternative approach, we identified 63 transcripts with differences in two muscles and 5 genes differing between the groups in three muscles. The expression of six selected genes (SQSTM1, SSRP1, DDIT4, ENAH, MAF, and PDK4) was investigated with SYBRGreen RT-Real time PCR. The differences obtained with the microarray analysis could be confirmed and demonstrate the validity of the alternative approach to microarray data analysis. Four genes with different expression levels in at least two muscles (SQSTM1, SSRP1, DDIT4, and MAF) are assigned to transcriptional cascades related to cell death and may thus indicate pathways for further investigations on congenital splay leg in piglets.