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BACKGROUND: Autosomal recessive spastic ataxia ofCharlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder characterizedby early-onset cerebellar ataxia, peripheral sensorimotor neuropathy, and lowerlimb spasticity. We present clinical andgenetic data of the first Bulgarian patients diagnosed with ARSACS by wholeexome sequencing (WES). METHODS: Variant filtering was performed usinglocally established pipeline and the selected variants were analysed by Sangersequencing. All patients underwent clinical examination and testingincluding the standard rating scales for spastic paraplegia and ataxia. RESULTS: Five different SACS gene variants, three of which novel, have been identified inpatients from three different ethnic groups. In addition to the classicalclinical triad, brain MRI revealed cerebellar atrophy, linear pontineT2-hypointensities, and hyperintense rim lateral tothalamus combined with retinal nerve fiber layer thickening on opticcoherence tomography (OCT). CONCLUSION: We expand the mutation, geographic, and phenotypic spectrum of ARSACS, adding Bulgaria to the world map of the disease, and drawing attention to the fact that it is still misdiagnosed. We demonstrated that brain MRI and OCT are necessary clinical tests for ARSACS diagnosis, even if one of the cardinal clinical features is lacking.
Subject(s)
Heat-Shock Proteins , Muscle Spasticity , Spinocerebellar Ataxias , Humans , Male , Bulgaria , Spinocerebellar Ataxias/genetics , Spinocerebellar Ataxias/pathology , Spinocerebellar Ataxias/congenital , Female , Muscle Spasticity/genetics , Muscle Spasticity/pathology , Muscle Spasticity/diagnosis , Muscle Spasticity/diagnostic imaging , Heat-Shock Proteins/genetics , Phenotype , Child , Adult , Mutation , Adolescent , Magnetic Resonance ImagingABSTRACT
Raising public awareness about the relevance of supporting sustainable practices is required owing to the phenomena of global warming caused by the rising production of greenhouse gases. The healthcare sector generates a relevant proportion of the total carbon emissions in developed countries, and radiology is estimated to be a major contributor to this carbon footprint. Neuroradiology markedly contributes to this negative environmental effect, as this radiological subspecialty generates a high proportion of diagnostic and interventional imaging procedures, the majority of them requiring high energy-intensive equipment. Therefore, neuroradiologists and neuroradiological departments are especially responsible for implementing decisions and initiatives able to reduce the unfavourable environmental effects of their activities, by focusing on four strategic pillars-reducing energy, water, and helium use; properly recycling and/or disposing of waste and residues (including contrast media); encouraging environmentally friendly behaviour; and reducing the effects of ionizing radiation on the environment. The purpose of this article is to alert neuroradiologists about their environmental responsibilities and to analyse the most productive strategic axes, goals, and lines of action that contribute to reducing the environmental impact associated with their professional activities.
Subject(s)
Greenhouse Gases , Radiology , Humans , Carbon Footprint , RadiologistsABSTRACT
Transient perivascular inflammation of the carotid artery (TIPIC syndrome) is a rare, unclassified vascular syndrome that usually affects the distal part of the common carotid artery and has a favorable prognosis. The disease is often misdiagnosed even by neurologists due to the moderate intensity of clinical symptoms and their transient character. We present a case of a 52-year-old man who experienced two episodes of transient neck pain and moderate local tenderness one and a half years apart. Different imaging modalities, such as ultrasound, CT angiography, and high-resolution 3T MR, were applied to better visualize the perivascular inflammation of the common carotid arteries. Based on the clinical-radiological characteristics of our case and applying the diagnostic criteria, we established the diagnosis of TIPIC syndrome. The patient was treated with nonsteroidal anti-inflammatory drugs for few weeks, and reduction in perivascular changes was observed in both episodes. The case raises questions about the phases of the disease, its duration and the intervals between follow-ups. Our article also increases the awareness of this rare clinical-radiological entity and presents recent data from the literature.
ABSTRACT
Medical imaging and machine learning are beneficial approaches in physical and forensic anthropology. They are particularly useful for the development of models for sex identification based on bone remains. The present study uses machine learning algorithms to create models for sex estimation based on mandibular measurements. The sample included head CT scans of 239 adult Bulgarians (116 males and 123 females). Three-dimensional coordinates of 45 landmarks of the mandible were acquired from segmented polygonal models of the skulls of these individuals. Two datasets of mandibular measurements were assembled. The first dataset included 51 measurements: linear, projective, and angular measurements. The second dataset included 990 interlandmark distances. Seven machine learning algorithms (Support Vector Machines, Neural Network, Naïve Bayes, Random Forest, J48, JRip, and Logistic Regression) were applied to the two datasets, and the classification accuracy was evaluated by 10x5-cross-validation. The selection of the best subsets of attributes specific to each of the abovementioned algorithms was done based on the attribute importance evaluated by an attribute selection scheme. In general, the sub-symbolic algorithms achieved higher results than the symbolic ones, except for the logistic regression. The best classification model was learnt by the Support Vector Machines algorithm, which achieved an accuracy of 95.3% on a dataset described by 19 interlandmark distances. In both datasets, the application of advanced attribute selection has led to an increase in the classification accuracy of all algorithms used in the experiments.
Subject(s)
Eastern European People , Mandible , Neural Networks, Computer , Sex Determination by Skeleton , Adult , Female , Humans , Male , Algorithms , Bayes Theorem , Mandible/anatomy & histology , Support Vector MachineABSTRACT
Background and Objectives: Colorectal cancer is the third most common oncological disease worldwide. The standard treatment of locally advanced rectal tumors is neoadjuvant radiochemotherapy in combination with surgical resection. The choice of specific treatment algorithm is highly dependent on MRI findings. The aim of this study is to show the potential role of ADC measurements in rectal cancer and their usage in different clinical scenarios. Materials and Methods: A total of 135 patients had rectal MRI evaluation. Seventy-five (56%) had histologically proven rectal adenocarcinoma and sixty (44%) were evaluated as rectal disease-free. An ADC measurement in the most prominent region of interest was obtained for all patients. Eighteen patients (24% of the rectal cancer group) had a second MRI after neoadjuvant chemoradiotherapy with comparison of the ADC values at the same region of interest as previously measured. Results: Rectal cancer ADC values were found to be significantly lower than the ones in the control group (p < 0.001). A statistically significant correlation was found when ADC values in rectal tumors of different T stages were compared (p = 0.039)-those with higher T stage as in locally advanced disease showed lower ADC values. Patients with extramural vascular invasion showed significantly lower ADC values (p = 0.01). There was a significant increase in ADC values after treatment (p < 0.001), and a negative correlation was observed (r = -0.6572; p = 0.004)-tumors with low initial ADC values showed a higher increase in ADC. Conclusions: ADC measurements have a complementary role in the assessment of rectal cancer and have the potential to predict the response to chemoradiotherapy and improve the planning of proper treatment strategies.
Subject(s)
Diffusion Magnetic Resonance Imaging , Rectal Neoplasms , Humans , Treatment Outcome , Magnetic Resonance Imaging , Chemoradiotherapy , Neoadjuvant Therapy , Rectal Neoplasms/diagnostic imaging , Rectal Neoplasms/therapyABSTRACT
The degree of sexual dimorphism expressed by human bones is of primary importance for the development of accurate methods for sex estimation. The objective of the present study was to investigate sex differences in shape and size of the mandible using geometric morphometric methods. The study also aimed to examine the impact of age on the sex classification ability of the size and shape of the mandible. Computed tomography images of 190 Bulgarians (98 males and 92 females) were used in the study. Polygonal surface models of the skulls were generated and used for digitizing 45 landmarks located on the mandible. The raw three-dimensional coordinates of the landmarks were processed via generalized Procrustes superimposition. The sex differences in mandibular size and shape were evaluated for statistical significance. Multivariate regression was applied for correction of the allometric effect. Principal component analysis, discriminant analysis, and canonical variate analysis were also used in the study. Mandibular size differed significantly between males and females and achieved a sex classification accuracy of 87%. The significance of the sex differences in mandibular shape depended on the type of shape variables used in the analysis. The shape variables provided different classification accuracy: 78% using the Procrustes coordinates and 53% using the regression residuals. The male and female mandibles differed significantly in size and shape, including the allometric component. Mandibular size is a more effective sex indicator than shape. Age has an ambiguous effect on the classification accuracy of the size and shape variables of the mandible.
Subject(s)
Coleoptera , Sex Characteristics , Animals , Humans , Male , Female , Mandible/diagnostic imaging , Skull , Discriminant Analysis , Principal Component AnalysisABSTRACT
Severe traumatic brain injury (TBI) is often associated with diffuse axonal injury. Diffuse axonal injury affecting the corpus callosum may present with intraventricular hemorrhage on baseline computed tomography (CT) scan. Posttraumatic corpus callosum damage is a chronic condition that can be diagnosed over the long term using various magnetic resonance imaging (MRI) sequences. Here, we present two cases of severe survivors of TBI with isolated intraventricular hemorrhage detected on an initial CT scan. After acute trauma management, long-term follow-up was performed. Diffusion tensor imaging and subsequent tractography revealed a significant decrease in the fractional anisotropy values and the number of corpus callosum fibers compared with those in healthy control patients. This study presents a possible correlation between traumatic intraventricular hemorrhage on admission CT and long-term corpus callosum impairment detected on MRI in patients with severe head injury by presenting demonstrative cases and conducting a literature review.
ABSTRACT
Sellar (caroticoclinoid and interclinoid), pterygospinous and pterygoalar bridges are osseous bars of the sphenoid bone, which enclose additional foramina in the skull base and could cause entrapment of nerves, occlusion of vessels and obstruction of surgical corridors. This study aimed to investigate the frequency of sphenoid bone bridges in Bulgarians and to assess the bilateral and sex differences in their distribution. This study was performed on head CT scans of 315 Bulgarians, 148 males and 167 females. The sellar bridges were the most common type of sphenoid bridging; particularly the caroticoclinoid bridge. The pterygospinous bridge was a relatively common finding and the pterygoalar bridge was the most infrequent type of bridging. The total frequency of sellar bridges did not differ significantly between both sides and sexes. The pterygospinous bridge did not indicate significant bilateral differences but showed considerable sex differences concerning the left-side occurrence, which was significantly higher in the male series. There were no considerable bilateral and sex differences in the distribution of the pterygoalar bridging. There were no significant correlations between the different types of sphenoid bone bridges, but each type of bridging showed significant positive correlations between the right and left side co-occurrence in males and females.
ABSTRACT
Pediatric neuroradiology is a subspecialty within radiology, with possible pathways to train within the discipline from neuroradiology or pediatric radiology. Formalized pediatric neuroradiology training programs are not available in most European countries. We aimed to construct a European consensus document providing recommendations for the safe practice of pediatric neuroradiology. We particularly emphasize imaging techniques that should be available, optimal site conditions and facilities, recommended team requirements and specific indications and protocol modifications for each imaging modality employed for pediatric neuroradiology studies. The present document serves as guidance to the optimal setup and organization for carrying out pediatric neuroradiology diagnostic and interventional procedures. Clinical activities should always be carried out in full agreement with national provisions and regulations. Continued education of all parties involved is a requisite for preserving pediatric neuroradiology practice at a high level.
Subject(s)
Radiology , Humans , Child , European Union , Consensus , Radiology/methods , EuropeABSTRACT
The level of sexual dimorphism manifested by human bones is an important factor for development of effective sex estimation methods. The aim of the study was to investigate the sexual dimorphism in the size and shape of the viscerocranium using geometric morphometric techniques. It also aimed to explore the sex differences in distinct viscerocranial regions and to establish the most dimorphic region with regard to size and shape. Computed tomography images of 156 males and 184 females were used in the study. Three-dimensional coordinates of 31 landmarks were acquired. Five landmark configurations were constructed from the viscerocranium and its orbital, nasal, maxillary, and zygomatic region. Generalized Procrustes superimposition, principal component analysis, and discriminant analysis were applied to each configuration. The significance of the sex differences in size and shape was assessed and significant differences were found in all configurations. The highest accuracy was obtained from both shape and size of the whole viscerocranium. Based on size only, the highest accuracy was achieved by the nasal region. The accuracy based on shape was generally low for all configurations, but the highest result was attained by the orbital region. Hence, size is a better sex discriminator than shape.
ABSTRACT
Sex identification is a primary step in forensic analysis of skeletal remains. The accuracy of sex estimation methods greatly depends on the sexual dimorphism manifested by the target anatomical region. The study aims to evaluate the sexual dimorphism in shape and size of the neurocranium and to compare the potential of shape and size of different cranial regions to classify correctly the male and female crania. The study was carried out on computed tomography images of 373 Bulgarian adults (161 males and 212 females). Three-dimensional coordinates of 32 landmarks were acquired. The landmarks were arranged in 4 configurations: neurocranium, frontal bone, parietotemporal region, and occipital bone. For each configuration, the presence of significant sex differences in shape and size was tested. Principal component analysis (PCA) was applied to explore the shape variation. The classification power of size and shape was tested using discriminant analysis and k-means clustering. The neurocranium shows significant sex differences in shape and size. The parietotemporal region is the most dimorphic neurocranial part in size and the frontal bone is the most differing one in shape. The size of the parietotemporal region and frontal bone classifies correctly more than 80% of the crania. The discrimination ability based on shape is rather low as the highest values of about 70% are obtained for the frontal and occipital bone. The PCA plots show large overlapping of the male and female crania. It can be inferred that the sex-specific size differences in the neurocranium are more important than the shape differences.
Subject(s)
Sex Determination by Skeleton , Adult , Discriminant Analysis , Female , Forensic Anthropology , Frontal Bone , Humans , Male , Principal Component Analysis , Sex Characteristics , Sex Determination by Skeleton/methods , Skull/anatomy & histology , Skull/diagnostic imagingSubject(s)
Aortic Dissection , Carotid Artery Diseases , Carotid Stenosis , Carotid Arteries , Humans , Stents , Ultrasonography, InterventionalABSTRACT
Pathogenic variants in MYH7 cause a wide range of cardiac and skeletal muscle diseases with childhood or adult onset. These include dilated and/or hypertrophic cardiomyopathy, left ventricular non-compaction cardiomyopathy, congenital myopathies with multi-minicores and myofiber type disproportion, myosin storage myopathy, Laing distal myopathy and others (scapulo-peroneal or limb-girdle muscle forms). Here we report the results from molecular genetic analyses (NGS and Sanger sequencing) of 4 patients in two families with variable neuromuscular phenotypes with or without cardiac involvement. Interestingly, variants in MYH7 gene appeared to be the cause in all the cases. A novel nonsense variant c.5746C>T, p.(Gln1916Ter) was found in the patient in Family 1 who deceased at the age of 2 years 4 months with the clinical diagnosis of dilated cardiomyopathy, whose father died before the age of 40 years, due to cardiac failure with clinical diagnosis of suspected limb-girdle muscular dystrophy. A splice acceptor variant c.5560-2A>C in MYH7 was detected in the second proband and her sister, with late onset distal myopathy without cardiac involvement. These different phenotypes (muscular involvement with severe cardiomyopathy and pure late onset neuromuscular phenotype without heart involvement) may result from novel MYH7 variants, which most probably impact the LMM (light meromyosin) domain's function of the mature protein.
Subject(s)
Cardiac Myosins/genetics , Distal Myopathies/genetics , Muscular Dystrophies, Limb-Girdle/genetics , Myosin Heavy Chains/genetics , Penetrance , Adult , Bulgaria , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Muscle, Skeletal/pathology , Muscular Diseases/congenital , Muscular Diseases/genetics , Mutation , Pedigree , PhenotypeABSTRACT
The aim of the present study is to apply support vector machines (SVM) and artificial neural network (ANN) as sex classifiers and to generate useful classification models for sex estimation based on cranial measurements. Besides, the performance of the generated sub-symbolic machine learning models is compared with models developed through logistic regression (LR). The study was carried out on computed tomography images of 393 Bulgarian adults (169 males and 224 females). The three-dimensional coordinates of 47 landmarks were acquired and used for calculation of the cranial measurements. A total of 64 measurements (linear distances, angles, triangle areas and heights) and 22 indices were calculated. Two datasets were assembled including the linear measurements only and all measurements and index, respectively. An additional third dataset comprising all possible interlandmark distances between the landmarks was constructed. Two machine learning algorithms-SVM and ANN and a traditional statistical analysis LR-were applied to generate models for sex estimation. In addition, two advanced attribute selection techniques (Weka BestFirst and Weka GeneticSearch) were used. The classification accuracy of the models was evaluated by means of 10 × 10-fold cross-validation procedure. All three methods achieved accuracy results higher than 95%. The best accuracy (96.1 ± 0.5%) was obtained by SVM and it was statistically significantly higher than the best results achieved by ANN and LR. SVM and ANN reached higher accuracy by training on the full datasets than the selection datasets, except for the sample described by the interlandmark distances, where the reduction of attributes by the GeneticSearch algorithm improved the accuracy.
Subject(s)
Neural Networks, Computer , Sex Determination by Skeleton/methods , Skull/anatomy & histology , Support Vector Machine , Adolescent , Adult , Aged , Aged, 80 and over , Anatomic Landmarks , Bulgaria , Cephalometry , Datasets as Topic , Female , Humans , Logistic Models , Male , Middle Aged , Reproducibility of ResultsABSTRACT
Background To assess different types of adnexal masses as identified by 3T MRI and to discuss the added value of diffusion techniques compared with conventional sequences. Patients and methods 174 women age between 13 and 87 underwent an MRI examination of the pelvis for a period of three years. Patients were examined in two radiology departments - 135 of them on 3 Tesla MRI Siemens Verio and 39 on 3 Tesla MRI Philips Ingenia. At least one adnexal mass was diagnosed in 98 patients and they are subject to this study. Some of them were reviewed retrospectively. Data from patients' history, physical examination and laboratory tests were reviewed as well. Results 124 ovarian masses in 98 females' group of average age 47.2 years were detected. Following the MRI criteria, 59.2% of the cases were considered benign, 30.6% malignant and 10.2% borderline. Out of all masses 58.1% were classified as cystic, 12.9% as solid and 29% as mixed. Ðf histologically proven tumors 74.4% were benign and 25.6% were malignant. All of the malignant tumors had restricted diffusion. 64 out of all patients underwent contrast enhancement. (34 there were a subject of contraindications). 39 (61%) of the masses showed contrast enhancement. Conclusions Classifying adnexal masses is essential for the preoperative management of the patients. 3T MRI protocols, in particular diffusion techniques, increase significantly the accuracy of the diagnostic assessment.
Subject(s)
Adnexal Diseases/diagnostic imaging , Magnetic Resonance Imaging/methods , Adolescent , Adult , Aged , Aged, 80 and over , Contrast Media , Diagnosis, Differential , Diffusion Magnetic Resonance Imaging , Female , Humans , Middle Aged , Organometallic CompoundsABSTRACT
OBJECTIVE. The purpose of this article is to review the characteristic CT and MRI findings associated with monogenetic causes of ischemic and hemorrhagic stroke in children and young adults. CONCLUSION. Ischemic and hemorrhagic stroke in children and young adults remains a common cause of acquired disability but is underrecognized. Brain parenchymal and vascular imaging is commonly performed as part of the comprehensive evaluation of young patients presenting with stroke. Familiarity with these patterns of disease enables early recognition of an underlying inherited condition.
Subject(s)
Magnetic Resonance Imaging , Stroke/diagnostic imaging , Stroke/genetics , Tomography, X-Ray Computed , Adolescent , Child , Contrast Media , Genetic Predisposition to Disease , Humans , Syndrome , Young AdultABSTRACT
The aim of the present study is to develop effective and understandable classification models for sex estimation and to identify the most dimorphic linear measurements in adult crania by means of data mining techniques. Furthermore, machine learning models and models developed through logistic regression analysis are compared in terms of performance. Computed tomography scans of 393 adult individuals were used in the study. A landmark-based approach was applied to collect the metric data. The three-dimensional coordinates of 47 landmarks were acquired and used for calculation of linear measurements. Two datasets of cranial measurements were assembled, including 37standard measurements and 1081 interlandmark distances, respectively. Three data mining algorithms were applied: the rule induction algorithms JRIP and Ridor, and the decision tree algorithm J48. Two advanced attribute selection methods (Weka BestFirst and Weka GeneticSearch) were also used. The best accuracy result (91.9 %) was achieved by a set of rules learnt by the JRIP algorithm from the dataset constructed by application of the GeneticSearch selection algorithm to the dataset of standard cranial measurements. The set consisted of five rules including seven cranial measurements. Its accuracy was even better than the classification rates achieved by the logistic regression models. Concerning the second dataset of nonstandard measurements, the best accuracy (88.3 %) was obtained by using classification models learnt by two algorithms - JRIP with a dataset preprocessed by the BestFirst selection algorithm and Ridor with preprocessing by the GeneticSearch selection algorithm. Our experiments show that for the two datasets mentioned above the rule-based models contain smaller sets of rules with shorter lists of measurements and achieve better classification accuracy results in comparison with decision tree-based models.
Subject(s)
Algorithms , Data Mining/methods , Machine Learning , Sex Determination by Skeleton/methods , Skull/diagnostic imaging , Tomography, X-Ray Computed , Adolescent , Adult , Aged , Aged, 80 and over , Anatomic Landmarks , Cephalometry , Decision Trees , Forensic Anthropology/methods , Humans , Imaging, Three-Dimensional , Logistic Models , Middle Aged , Skull/anatomy & histology , Young AdultABSTRACT
Mastoid Triangle (MT) is a triangle constructed between the landmarks porion, mastoidale and asterion. The aim of the study is to evaluate the sex differences in the MT size in Bulgarian adults and to develop discriminant functions for sex estimation based on the MT sides and area. The study was carried out on 148 head CT scans. A sample of 53 males and 53 females was used for development of discriminant functions, and a test sample of 21 males and 21 females was applied for their validation. Using the software InVesalius©, 3D models of the skulls were segmented and exported in STL format. The 3D coordinates of the landmarks porion, asterion and mastoidale were collected using the software MeshLab©. The MT sides, area and angles were calculated. The sex differences were assessed by the independent t-test. Bilateral differences were evaluated using the paired t-test. Univariate and multivariate discriminant function analyses were applied. The results showed that the MT sides and area differed significantly between both sexes. Sex differences were also established for the angle at mastoidale. Bilateral differences were found in males for the distance porion-mastoidale, which was significantly greater on the right side. The MT dimensions showed sufficient discriminating power for sex estimation among Bulgarians (up to 89%), and the total MT area proved to be the best single sex discriminating trait. The test sample corroborated the usefulness of the MT in sex estimation demonstrating similar or higher overall accuracy rates.
Subject(s)
Mastoid/anatomy & histology , Sex Determination by Skeleton/methods , Adult , Aged , Bulgaria , Female , Humans , Male , Middle Aged , Multivariate Analysis , Predictive Value of Tests , Sex CharacteristicsABSTRACT
Foramen magnum (FM) has a well-protected position, which makes it of particular interest in forensic research. The aim of the study is to assess the sex differences in size and shape of FM, develop discriminant functions and logistic regression models based on the FM measurements, compare the accuracy results of the measurements obtained through different measuring approaches, and establish the most reliable variables for sex estimation in Bulgarian adults. Head CT scans of 140 Bulgarian adults were used in the study. The segmentation of the skulls was performed in the software InVesalius. The length, breadth, circumference, and area were measured based on the 3D coordinates of definite landmarks and semi-landmarks. The circumference and area were calculated regarding the foramen as a 2D and 3D structure. Two additional variables (λ2 and λ3) corresponding to the least square errors along the length and breadth directions at the fitting of the 3D coordinates to a plane were examined for their sex discriminating ability. The FM shape was classified based on the values of the FM index. The significance of the sex differences was assessed. Discriminate function analysis and binary logistic regression were conducted. Significant sex differences were established in the FM size and shape. The eigenvalue λ3 is the best discriminating parameter applying discriminant function analysis. The acceptance of FM as a 2D or 3D structure does not provide substantial information for its sex discrimination. The measurements of FM do not offer sufficiently high predicting rates for sex estimation in the Bulgarian population.
Subject(s)
Foramen Magnum/anatomy & histology , Foramen Magnum/diagnostic imaging , Forensic Anthropology/methods , Sex Characteristics , Sex Determination by Skeleton/methods , Tomography, X-Ray Computed/methods , Bulgaria , Discriminant Analysis , Female , Humans , Imaging, Three-Dimensional , Logistic Models , Male , Skull/anatomy & histology , Skull/diagnostic imagingABSTRACT
Mutations in TCAP gene cause autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and hypertrophic cardiomyopathy. We studied 18 affected individuals from 12 pedigrees, belonging to a Bulgarian Muslim minority from the South-West of Bulgaria, homozygous for the c.75G>A, p.Trp25X mutation in TCAP gene. The heterozygous carrier rate of p.Trp25X among 100 newborns in this region was found to be 2%. The clinical features in the Bulgarian TCAP group include disease onset in the first to the third decade of life, proximal muscle weakness in the lower limbs, followed or accompanied by difficulties in ankle dorsiflexion and involvement of the proximal muscles of the upper limbs 5-9 years after the disease onset. Asymmetry between left and right was present in more than 20% of the affected. Respiratory and cardiac functions were not affected. On the MRI the muscles of the posterior pelvic area, thigh and anterior leg were predominantly affected, while sartorius, gracilis and biceps femoris muscles remained relatively spared. In conclusion, LGMD2G appears to be a common form among Bulgarian Muslims. Homozygosity for c.75G>A, p.Trp25X is associated with a homogeneous clinical presentation, but the clinical course and severity of the disease show inter- and intra-familial variation.