Duchenne muscular dystrophy in a female with x-autosome translocation

Duchenne’s muscular dystrophy is the most common hereditary neuromuscular disease, which affects all races. Its classical characteristic clinical features being progressive muscular weakness, intellectual impairment and hypertrophy of the calves with proliferation of connective tissue and progressive fibrosis in muscles. As the disease is inherited as an X-linked recessive trait, thus females not manifesting the disease and acting as carriers only, as second X chromosome prevents the manifestation of disease. We report a case of classical Duchenne muscular dystrophy in 10 year old female with no intellectual deficit and no family history of similar type of muscular dystrophy.

An Integrative Review Exploring Psycho-Social Impacts and Therapeutic Interventions for Parent Caregivers of Young People Living with Duchenne’s Muscular Dystrophy

The purpose of this integrative review was to explore psycho-social impacts and therapeutic interventions for parent caregivers of young people living with Duchenne’s Muscular Dystrophy (DMD). Electronic databases were searched for research publications between 2010 and 2020. This included Medline, CINAHL, PsycINFO, ERIC, ERC, and AMED. Four central themes emerged: Living with DMD; Knowing and telling; Transitioning; and Building resilience. The impact on parents caring for a child with DMD affected all aspects of their lives, changed over time, and had identifiable peak stress points. Unmet parental information and support needs left parents struggling in their role. Transition required changes to parenting behaviors and required adaptation and resilience. It is proposed that future investment should focus on anticipating family need, targeting intervention cognizant of predictable stress points and building resilience through social community. Parents may then be better positioned to support their child in looking forward.

Tracheocarotid artery fistula in a patient who had tracheostomy successfully treated with a saphenous vein graft

Tracheoarterial fistula is a complication of tracheostomy with a high associated mortality. A 25-year-old male patient with Duchenne’s muscular dystrophy underwent a percutaneous tracheostomy using the single tapered dilator (Blue Rhino) technique to facilitate weaning from mechanical ventilation. Nine weeks after the procedure, he developed significant upper airway bleeding, leading to haemodynamic instability. A CT angiogram of the neck and thorax did not reveal a source of the bleeding. The patient was subsequently transferred to the operating theatre where a 1 cm defect in the right common carotid artery was found and repaired with a graft from the left short saphenous vein. Clinicians who undertake tracheostomy formation should be aware of the possibility of tracheoarterial defect and may wish to discuss it at tracheostomy formation. It should be considered early in the event of a significant bleed. This case identifies deep tissue infection and misplacement of the tracheostomy tube as major contributing factors to fistula formation.

A CASE REPORT ON THE MANAGEMENT OF DUCHENNE’S MUSCULAR DYSTROPHY (DMD) WITH MATRA BASTI

Duchenne’s Muscular Dystrophy (DMD) is the most common x-linked disorder in children presenting in early childhood due to recessive mutation of the dystrophin gene. It is characterized by progressive weak-ness in hip and shoulder girdle muscles beginning by age 5. Although there is no absolute cure for DMD, therapies can delay the onset or slow down the progression of disease. Survival beyond the age of 30 years is rare due to the severe chronic complication involving multiple systems. Serum Creatine Phosphokinase (CPK) level determination is the most specific objective parameter for the diagnosis and assessment of se-verity of Muscular Dystrophy (MD). Based on the presentation of DMD, it can be diagnosed as Mamsavru-ta Vatal leading to Mamsa Dhatu Upashoshana which is the consequence of Beejabhagavikruti. There will be continuous destruction of Dhatu leading to Vataprakopa again. Hence, the line of management is con-trolling the Vata and preventing the destruction. The best treatment for it which has this dual action is Mat-ra Basti. With this basic concept, a male child of 10 years diagnosed as Mamsavruta Vata was treated with Matra Basti using Dhanwantara Taila 10 ml/day for about 9 months. As there was associated Sama Do-shavastha, Agnichikitsa Lepa was advised for 7 days initially. The treatment showed significant reduction in the level of CPK tested before and after the treatment. Hence, the treatment protocol followed can be taken up for further research and can prove with evidence that, it can be effectively practiced in the man-agement of DMD. The long-term benefit, improvement in disease, quality of life can be accessed through the research with long term follow-ups.

A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies

Caveolae are the cholesterol-rich small invaginations of the plasma membrane present in many cell types including adipocytes, endothelial cells, epithelial cells, fibroblasts, smooth muscles, skeletal muscles and cardiac muscles. They serve as specialized platforms for many signaling molecules and regulate important cellular processes like energy metabolism, lipid metabolism, mitochondria homeostasis, and mechano-transduction. Caveolae can be internalized together with associated cargo. The caveolae-dependent endocytic pathway plays a role in the withdrawal of many plasma membrane components that can be sent for degradation or recycled back to the cell surface. Caveolae are formed by oligomerization of caveolin proteins. Caveolin-3 is a muscle-specific isoform, whose malfunction is associated with several diseases including diabetes, cancer, atherosclerosis, and cardiovascular diseases. Mutations in Caveolin-3 are known to cause muscular dystrophies that are collectively called caveolinopathies. Altered expression of Caveolin-3 is also observed in Duchenne’s muscular dystrophy, which is likely a part of the pathological process leading to muscle weakness. This review summarizes the major functions of Caveolin-3 in skeletal muscles and discusses its involvement in the pathology of muscular dystrophies.

Phylogeny can Inform Animal Model Development for Both Inherited and Induced Conditions: Duchenne’s Muscular Dystrophy (DMD) and Fetal Alcohol Spectrum Disorders (FASD)

The use of animal models in research on human and veterinary diseases and disorders is retracting, though it is likely to remain critical for decades. In light of increasing regulation and expectations of judicious use of animal subjects, we examine the idea that the use of animal models can be guided by phylogenetic relationships and modern evolutionary and cladistic analyses. Given that inherited disorders, and indeed, even the developmental and physiological responses to non-inherited conditions, are subject to evolutionary forces, it follows that the observed differences in model organisms are the products of evolutionary divergence. Understanding that divergence has the potential to elucidate which taxa are most likely to exhibit any given symptom or manifest a reaction in a broadly predictable fashion. We examine two case studies, one the inherited disorder Duchenne’s Muscular Dystrophy, and the other an entirely environmentally induced problem, Fetal Alcohol Spectrum Disorder, or Fetal Alcohol Syndrome. Both case studies reveal symptoms are largely congruent with phylogeny, suggesting relatively conservative evolution of developmental pathways. It follows that it is possible to characterize the manifestation of symptoms or dysmorphologies to broad phylogenetic groups. These data can then be used to inform research into possible treatments based on molecular genetic techniques sourced from unaffected taxa or even provide an evolutionary rationale for maximizing ethical decisions in the use and development of animal models in biomedical research. We argue that the technique should become standard practice in the development of animal models.