Spinal Muscular Atrophy 5q under the Mask of Myopathy: 10 Clinical Cases

Background. Spinal muscular atrophy 5q (5q SMA) is the most frequent autosomal recessive hereditary neuromuscular disease. Molecular genetic testing is used for SMA diagnosis, and it can confirm only 5q SMA. The clinical findings and results of paraclinical studies may overlap with hereditary primary-muscular diseases making the diagnosis difficult and delaying the administration of pathogenetic treatment for 5q SMA.Clinical case description. Clinical description of 10 patients with 5q SMA aged from 3 months to 25 years with different severity of proximal tetraparesis, skeletal muscular atrophy and tendon reflexes depression is given. 3 patients under 2 years of age with myogenic pattern at needle electromyography (nEMG) in lateral vastus muscle and 7 patients over 2 years of age with increased levels of creatine phosphokinase (CPK) in blood serum were mistakenly diagnosed for inherited primary-muscular diseases for the period from 1 month to 12 years. After the genetic counselling based on the disease course and clinical findings we suspected and later confirmed 5q SMA.Conclusion. In case of flaccid proximal tetraparesis associated with myogenic pattern at nEMG in young children or with increased CPK levels at late manifestation it is crucial to perform differential diagnosis of 5q SMA since there are options of pathogenetic therapy.

Muscle Ultrasonographic Elastography in Children: Review of the Current Knowledge and Application

Ultrasonographic elastography is a relatively new imaging modality for the qualitative and quantitative assessments of tissue elasticity. While it has steadily gained use in adult clinical practice, including for liver diseases, breast cancer, thyroid pathologies, and muscle and tendon diseases, data on its paediatric application is still limited. Moreover, diagnosis of muscular diseases in children remains challenging. The gold standard methods, namely biopsy, electroneurography, and electromyography, are often limited owing to their invasive characteristics, possible contraindications, complications, and need for good cooperation, that is, a patient’s ability to perform certain tasks during the examination while withstanding discomfort, which is a significant problem especially in younger or uncooperative children. Genetic testing, which has broad diagnostic possibilities, often entails a high cost, which limits its application. Thus, a non-invasive, objective, repeatable, and accessible tool is needed to aid in both the diagnosis and monitoring of muscle pathologies. We believe that elastography may prove to be such a method. The aim of this review was to present the current knowledge on the use of muscle elastography in the paediatric population and information on the limitations of elastography in relation to examination protocols and factors for consideration in everyday practice and future studies.

Mesenchymal Stromal Cells and Their Secretome: New Therapeutic Perspectives for Skeletal Muscle Regeneration

Mesenchymal stromal cells (MSCs) are multipotent cells found in different tissues: bone marrow, peripheral blood, adipose tissues, skeletal muscle, perinatal tissues, and dental pulp. MSCs are able to self-renew and to differentiate into multiple lineages, and they have been extensively used for cell therapy mostly owing to their anti-fibrotic and immunoregulatory properties that have been suggested to be at the basis for their regenerative capability. MSCs exert their effects by releasing a variety of biologically active molecules such as growth factors, chemokines, and cytokines, either as soluble proteins or enclosed in extracellular vesicles (EVs). Analyses of MSC-derived secretome and in particular studies on EVs are attracting great attention from a medical point of view due to their ability to mimic all the therapeutic effects produced by the MSCs (i.e., endogenous tissue repair and regulation of the immune system). MSC-EVs could be advantageous compared with the parental cells because of their specific cargo containing mRNAs, miRNAs, and proteins that can be biologically transferred to recipient cells. MSC-EV storage, transfer, and production are easier; and their administration is also safer than MSC therapy. The skeletal muscle is a very adaptive tissue, but its regenerative potential is altered during acute and chronic conditions. Recent works demonstrate that both MSCs and their secretome are able to help myofiber regeneration enhancing myogenesis and, interestingly, can be manipulated as a novel strategy for therapeutic interventions in muscular diseases like muscular dystrophies or atrophy. In particular, MSC-EVs represent promising candidates for cell free-based muscle regeneration. In this review, we aim to give a complete picture of the therapeutic properties and advantages of MSCs and their products (MSC-derived EVs and secreted factors) relevant for skeletal muscle regeneration in main muscular diseases.

Clinical-economic evaluation of a screening for Pompe disease in children in the local conditions

Pompe disease with late onset (PDLO) can’t be diagnosed in time due to common symptoms with several neuro-muscular diseases. Screening and diagnostic measures could lead to efficacy enzyme replaced therapy (ERT) with alglucosidase alfa with aim of severe complications prediction. Screening has a nominal cost, so evaluation of it’s clinical-economic reason to use is important, especially in the local conditions. Materials and methods. Dynamic of expenditures for PDLO in case of screening in kids from risks groups has been performed, including treatment with alglucosidase on time in 12-months horizon — cost of illness. Direct and non-direct costs were calculated in case of diagnostic on time and for non-diagnosed patients, cost-effective ratios were calculated and compared in both cases. Results. The analysis showed a 10 % reduction in the total cost per year with 50 % coverage of children at risk group and 18 % (837 mln RUR) — in case of 100 %-coverage with screening on PDLO. These changes in costs are associated with a significant reduction in the burden on outpatient and inpatient care units. Cost-effective ratio in case of early treatment with alglucosidase alfa was less than in non-diagnosed group on 18,1 %. ERT had main cost in diagnosed group, and costs of complications and disability were main in nondiagnosed group. Conclusion: Health Care system expenditures are expecting less in case of screening on PDLO in risks groups.

PATRA PINDA SWEDANA (A Unique Method of Massage with Fomentation) : A Review

Swedana or Fomentation is a treatment practice which induces sweating by means of heat either in the form of steam (Bashpa) or by direct contact of the body with heated medicament (Tapa).Sankara Sweda, commonly known asPinda Swedais a fomentation method in which the materials are tied in a cloth and massaged over the part to be sudated.In PatraPindaSweda, a type of Pinda Sweda, different medicinal leaves along with other drugs are roasted in suitable medicated oil, made intoPinda(bolus) form by tying them in a suitable cloth and used for Swedanaafterperforming Abhyanga (mild massage). Swedana, in generally relieves pain, stiffness, heaviness, and coldness in the body. This treatment procedure eliminates the bodily toxins through sweating.It provides better therapeutic efficacy in orthopedic disorders especially in diseases like Osteoarthritis, Rheumatoid Arthritis, Cervical spondylosis, Lumbar spondylosis,Ankylosing Spondylitis, musculoskeletal pain as well as in neuro-muscular diseases. Present article deals with literary as well as contemporary review of the Patra Pinda Swedana.

Statin use and myopathy. Not always guilty

Objectives Statins are the cornerstone of the treatment and prevention of cardiovascular disease but have been associated with muscular side effects, among others. If patients are not properly evaluated, statin discontinuation may take place, leaving patients’ symptoms unresolved and precluding an effective cardiovascular treatment. The present study aims to describe the clinical characteristics, the diagnostic process and the final diagnosis of selected patients with suspected statin-induced myopathy, with quite different alternative diagnoses. Methods Among the 86 patients referred to our unit for evaluation since 2012, 6 patients with suspected statin-induced myopathy that was finally ruled out were selected as examples because of their illustrative value. All patients were evaluated in a Muscular Diseases Unit by myology experts, and additional testing was performed according to clinical suspicion. Results Of the six selected patients with suspected statin-induced myopathy, three had a neurogenic aetiology, two had vacuolar myopathies and one had severe hypothyroidism. Statins were permanently discontinued in two cases, with the treatment of one of the latter patients being continued with a protein convertase subtilisin/kexin type 9 (PCSK9) inhibitor. Conclusion Not all patients taking statins who develop muscle complaints have statin-related myopathy. A thorough clinical evaluation and appropriate testing is warranted to avoid an unnecessary increase in cardiovascular risk.