Clinical-electroneuromyographic characteristics of the patients with duchenne/becker's progressive muscular dystrophy in Uzbekistan

We examined 106 patients with a diagnosis of Duchenne / Becker progressive muscular dystrophy (PMD), selected in the group of those who applied to the Republican Center for Screening of Mother and Child with various hereditary neuromuscular diseases. Based on the analysis of pedigrees, clinical manifestations and paraclinical research methods, the features of the clinical polymorphism of this disease in Uzbekistan were studied.

The role of magnetic resonance imaging of muscles in the differential diagnosis of certain forms and subtypes of limb-girdle muscular dystrophy: case analysis

Limb-girdle muscular dystrophy is a genetically heterogeneous group of disorders that are characterized by slowly progressing muscle weakness and presents a diagnostic problem in the neurological practice. The combination of clinical, radiological, and laboratory methods of examination plays an important role in referring the patient to genetic counseling and making the correct diagnosis. Magnetic resonance imaging of muscles is increasingly used to give clues in the primary muscle damage diagnosis, based on specific patterns of muscle lesion. The article provides two clinical cases as an example of an integrated approach to the diagnosis of progressive muscular dystrophy using genetic analysis and magnetic resonance imaging of muscles

The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

In skeletal muscle, long noncoding RNAs (lncRNAs) are involved in dystrophin protein stabilization but also in the regulation of myocytes proliferation and differentiation. Hence, they could represent promising therapeutic targets and/or biomarkers for Duchenne and Becker muscular dystrophy (DMD/BMD). DMD and BMD are X-linked myopathies characterized by a progressive muscular dystrophy with or without dilatative cardiomyopathy. Two-thirds of DMD gene mutations are represented by deletions, and 63% of patients carrying DMD deletions are eligible for 45 to 55 multi-exons skipping (MES), becoming BMD patients (BMDΔ45-55). We analyzed the genomic lncRNA presence in 38 BMDΔ45-55 patients and characterized the lncRNA localized in introns 44 and 55 of the DMD gene. We highlighted that all four lncRNA are differentially expressed during myogenesis in immortalized and primary human myoblasts. In addition, the lncRNA44s2 was pointed out as a possible accelerator of differentiation. Interestingly, lncRNA44s expression was associated with a favorable clinical phenotype. These findings suggest that lncRNA44s2 could be involved in muscle differentiation process and become a potential disease progression biomarker. Based on these results, we support MES45-55 therapy and propose that the design of the CRISPR/Cas9 MES45-55 assay consider the lncRNA sequences bordering the exonic 45 to 55 deletion.

Progressive Muscular Dystrophy (Duchenne Type) (Case Report)

Clinical findings of two brothers suffering from progressive muscular dystrophy pseudohypertrophic type according to Duchenne are reported. Literatures dealing with its clinical classification, biochemical disturbances, hypotheses of the pathogenesis, management of treatment, mode of action of A.T.P. and the pedigree have been briefly reported. Progressive Muscular Dystrophy is a progressive disease affecting voluntary muscles; It is characterized by a decreased strength in the affected muscles with rapid or slow gradual progression. About 45% of the patients gave a history that at least another member of the family is affected by the disease. Pseudohypertrophic form (Duchenne type) is usually inherited as a recessive factor, often sexlinked.

Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the Literature

Background. Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLS) is an intermediate or locally aggressive form of adipocytic soft tissue sarcoma. Muscular dystrophy (MD) is characterized by progressive muscle atrophy and its replacement by adipose and fibrous tissue. Recently, some authors have reported that MD genes are related to neoplastic formation, but there have been no detailed clinical reports of ALT associated with MD. Case Presentation. A 73-year-old woman with a diagnosis of limb-girdle MD visited our department for recurrence of a huge tumor in her left thigh. She had undergone resection of a lipoma at the same site more than 20 years earlier. Imaging studies revealed a lipomatous tumor in her left thigh. We performed marginal resection including the adjacent muscles. Histological diagnosis was atypical lipomatous tumor. The postoperative course was uneventful, with no recurrence at 36 months of follow-up. Conclusion. We encountered a huge atypical tumor in a patient with MD. This is the first detailed report to describe an association between ALT and MD. We hypothesize that degenerative changes occurring in adipose tissue during muscle atrophy can cause lipomatous neoplasms and moreover that the mutation of MD-related genes may lead to the proliferation of tumor cells or to malignancy.

Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I

Limb girdle muscular dystrophy 2I is a slowly progressive muscular dystrophy due to mutations in the Fukutin-related protein ( FKRP) gene. Clinicians are frequently asked if physical activity is harmful for pediatric patients with limb girdle muscular dystrophy 2I. The primary objective of this study was to determine if there is a relationship between self-reported childhood activity level and motor function and respiratory function in older children and adults with limb girdle muscular dystrophy 2I. We compared retrospective self-reported middle school activity level and sport participation with age at onset of weakness, 10-meter walk test, and forced vital capacity later in life in 41 participants with FKRP mutations. We found no relationship between activity level in childhood and disease course later in life, suggesting that self-directed physical activity in children with limb girdle muscular dystrophy 2I does not negatively affect disease progression and outcome.