Muscle Wasting Disease of Endocrine Origin

1968 ◽  
Vol 52 (2) ◽  
pp. 243-252 ◽  
Author(s):  
Coy D. Fitch
Keyword(s):  
Muscle Wasting ◽  
Wasting Disease ◽  
Muscle Wasting Disease

Ayurvedic management of Ducchen’s Muscular Dystrophy - A Case report

2017 ◽  
Vol 2 (4) ◽  
Author(s):  
Jayaraj R. ◽  
Veena G. Rao ◽  
Jyothi Nagalikar
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Dysfunction ◽  
Muscle Wasting ◽  
Progressive Disease ◽  
Genetic Disorder ◽  
Dystrophin Gene ◽  
Wasting Disease ◽  
Number Of Patients ◽  
Choice Of Treatment ◽  
Muscle Wasting Disease

Ducchen’s muscular dystrophy is most common X-linked recessive disorder affecting 30 in 100,000 live male births. The primary cause of this disease is mutations in Dystrophin gene which is essential for the structural and functional integrity of muscle. It is a progressive muscle wasting disease in which patients frequently develop contractures and lose the ability to walk between 6 and 12 years of age. With progressive disease most patients succumb to death from respiratory failure and cardiac dysfunction in their twenties. As this is a genetic disorder we can consider it as Adibala Pravritta Vyadhi. As Mamsa Kshaya is seen at some muscles and Mamsa Vriddhi at other this is an Avarana Vata Vyadhi. In both Upsthambha and Nirupasthmbha Vatavyadhi, Basthi is considered as prime choice of treatment. A Variety of Ksheerabasti in the form of Kalabasti is studied in this condition by taking subjective and objective parameters. As this has given better improvement with no adverse effects in the patient, it can be tried in large number of patients.

scholarly journals Donnan dominated ion homeostasis and the longevity of ischemic Na+-loaded dystrophic skeletal muscle

2020 ◽  
Author(s):  
Catherine E Morris ◽  
Joshua J Wheeler ◽  
Béla Joos
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscle Wasting ◽  
Low Cost ◽  
Ion Homeostasis ◽  
Feedback Process ◽  
Chloride Permeability ◽  
Wasting Disease ◽  
Sodium Permeability ◽  
Muscle Wasting Disease

ABSTRACTThe inherited muscle-wasting disease, Duchenne muscular dystrophy (DMD), renders skeletal muscle fibers (SMFs) Na+-overloaded, ischemic, membrane-damaged, cation-leaky, depolarized, and prone to myogenic firing. DMD fibers nevertheless survive up to 3 decades before succumbing to Ca2+-necrosis. The Ca2+-necrosis is explicable, the longevity is not. Modeling here shows that SMFs’ ion homeostasis strategy, a low-cost resilient Pump-Leak/Donnan feedback process we term “Donnan dominated”, underpins that longevity. Together, SMFs’ huge chloride-permeability and tiny sodium-permeability minimize excitability and pump costs, facilitating the outsized SMF pump-reserve that lets DMD fibers withstand deep ischemia and leaky channels. We illustrate how, as these impairments intensify, patients’ chronic Na+-overload (now non-invasively evident via Na23-MRI) would change. In simulations, prolonged excitation (→physiological Na+-overloading) and/or intense ischemia (→too little Na+-pumping) and accumulated bleb-damage (→too much Na+-leaking) eventually trigger Ca2+-overloading conditions. Our analysis implies an urgent need to identify SMFs’ pivotal small PNa, thereby opening new therapeutic remediation routes.

scholarly journals Special Issue: Pathophysiology and Therapeutic Perspectives in DMD: The Well-Defined Role of the Immune System

Biomedicines ◽  
2021 ◽  
Vol 9 (12) ◽  
pp. 1911
Author(s):  
Andrea Farini
Keyword(s):  
Immune System ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Wasting ◽  
Special Issue ◽  
Wasting Disease ◽  
Muscle Wasting Disease

Duchenne muscular dystrophy (DMD) is the most common, lethal, muscle-wasting disease of childhood [...]

scholarly journals Are we closer to having drugs to treat muscle wasting disease?

2014 ◽  
Vol 5 (2) ◽  
pp. 83-87 ◽  
Author(s):  
John E. Morley ◽  
Stephan von Haehling ◽  
Stefan D. Anker
Keyword(s):  
Muscle Wasting ◽  
Wasting Disease ◽  
Muscle Wasting Disease

scholarly journals From diagnosis to therapy in Duchenne muscular dystrophy

2020 ◽  
Vol 48 (3) ◽  
pp. 813-821 ◽  
Author(s):  
Arran Babbs ◽  
Maria Chatzopoulou ◽  
Ben Edwards ◽  
Sarah E. Squire ◽  
Isabel V.L. Wilkinson ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Wasting ◽  
Exon Skipping ◽  
Short Review ◽  
Current Status ◽  
Muscle Membrane ◽  
Therapeutic Approaches ◽  
Wasting Disease ◽  
Muscle Wasting Disease

Genetic approaches for the diagnosis and treatment of inherited muscle diseases have advanced rapidly in recent years. Many of the advances have occurred in the treatment of Duchenne muscular dystrophy (DMD), a muscle wasting disease where affected boys are typically wheelchair bound by age 12 years and generally die in their twenties from respiratory failure or cardiomyopathy. Dystrophin is a 421 kD protein which links F-actin to the extracellular matrix via the dystrophin-associated protein complex (DAPC) at the muscle membrane. In the absence of dystrophin, the DAPC is lost, making the muscle membrane more susceptible to contraction-induced injury. The identification of the gene causing DMD in 1986 resulted in improved diagnosis of the disease and the identification of hotspots for mutation. There is currently no effective treatment. However, there are several promising genetic therapeutic approaches at the preclinical stage or in clinical trials including read-through of stop codons, exon skipping, delivery of dystrophin minigenes and the modulation of expression of the dystrophin related protein, utrophin. In spite of significant progress, the problem of targeting all muscles, including diaphragm and heart at sufficiently high levels, remains a challenge. Any therapy also needs to consider the immune response and some treatments are mutation specific and therefore limited to a subgroup of patients. This short review provides a summary of the current status of DMD therapy with a particular focus on those genetic strategies that have been taken to the clinic.

scholarly journals Abnormal Calcium Handling in Duchenne Muscular Dystrophy: Mechanisms and Potential Therapies

2021 ◽  
Vol 12 ◽  
Author(s):  
Satvik Mareedu ◽  
Emily D. Million ◽  
Dongsheng Duan ◽  
Gopal J. Babu
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Therapeutic Strategy ◽  
Muscle Wasting ◽  
Premature Death ◽  
Calcium Handling ◽  
Muscle Degeneration ◽  
Wasting Disease ◽  
Fatty Replacement ◽  
Muscle Wasting Disease

Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disease caused by the loss of dystrophin. DMD is associated with muscle degeneration, necrosis, inflammation, fatty replacement, and fibrosis, resulting in muscle weakness, respiratory and cardiac failure, and premature death. There is no curative treatment. Investigations on disease-causing mechanisms offer an opportunity to identify new therapeutic targets to treat DMD. An abnormal elevation of the intracellular calcium (Cai2+) concentration in the dystrophin-deficient muscle is a major secondary event, which contributes to disease progression in DMD. Emerging studies have suggested that targeting Ca2+-handling proteins and/or mechanisms could be a promising therapeutic strategy for DMD. Here, we provide an updated overview of the mechanistic roles the sarcolemma, sarcoplasmic/endoplasmic reticulum, and mitochondria play in the abnormal and sustained elevation of Cai2+ levels and their involvement in DMD pathogenesis. We also discuss current approaches aimed at restoring Ca2+ homeostasis as potential therapies for DMD.

scholarly journals Muscle wasting disease: a proposal for a new disease classification

2014 ◽  
Vol 5 (1) ◽  
pp. 1-3 ◽  
Author(s):  
Stefan D. Anker ◽  
Andrew J. S. Coats ◽  
John E. Morley ◽  
Giuseppe Rosano ◽  
Roberto Bernabei ◽  
...  
Keyword(s):  
Muscle Wasting ◽  
Disease Classification ◽  
New Disease ◽  
Wasting Disease ◽  
Muscle Wasting Disease

scholarly journals Effect of serotonin modulation on dystrophin-deficient zebrafish

Biology Open ◽  
2020 ◽  
Vol 9 (8) ◽  
pp. bio053363 ◽  
Author(s):  
Janelle M. Spinazzola ◽  
Matthias R. Lambert ◽  
Devin E. Gibbs ◽  
James R. Conner ◽  
Georgia L. Krikorian ◽  
...  
Keyword(s):  
Selective Serotonin Reuptake Inhibitors ◽  
Dystrophic Muscle ◽  
Wasting Disease ◽  
Term Survival ◽  
Reversible Inhibitors ◽  
Restoration Strategies ◽  
Muscle Wasting Disease ◽  
Improve Patient ◽  
Serotonin Pathway

ABSTRACTDuchenne muscular dystrophy (DMD) is a progressive muscle-wasting disease caused by mutation of the dystrophin gene. Pharmacological therapies that function independently of dystrophin and complement strategies aimed at dystrophin restoration could significantly improve patient outcomes. Previous observations have suggested that serotonin pathway modulation ameliorates dystrophic pathology, and re-application of serotonin modulators already used clinically would potentially hasten availability to DMD patients. In our study, we used dystrophin-deficient sapje and sapje-like zebrafish models of DMD for rapid and easy screening of several classes of serotonin pathway modulators as potential therapeutics. None of the candidate drugs tested significantly decreased the percentage of zebrafish exhibiting the dystrophic muscle phenotype in the short-term birefringence assay or lengthened the lifespan in the long-term survival assay. Although we did not identify an effective drug, we believe our data is of value to the DMD research community for future studies, and there is evidence that suggests serotonin modulation may still be a viable treatment strategy with further investigation. Given the widespread clinical use of selective serotonin reuptake inhibitors, tricyclic antidepressants and reversible inhibitors of monoamine oxidase, their reapplication to DMD is an attractive strategy in the field's pursuit to identify pharmacological therapies to complement dystrophin restoration strategies.

scholarly journals Glucocorticoids enhance muscle endurance and ameliorate Duchenne muscular dystrophy through a defined metabolic program

2015 ◽  
Vol 112 (49) ◽  
pp. E6780-E6789 ◽  
Author(s):  
Alexander Morrison-Nozik ◽  
Priti Anand ◽  
Han Zhu ◽  
Qiming Duan ◽  
Mohamad Sabeh ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Atrophy ◽  
Muscle Performance ◽  
Therapeutic Effects ◽  
Wasting Disease ◽  
As Doping ◽  
Ergogenic Effects ◽  
Muscle Wasting Disease ◽  
Direct Induction

Classic physiology studies dating to the 1930s demonstrate that moderate or transient glucocorticoid (GC) exposure improves muscle performance. The ergogenic properties of GCs are further evidenced by their surreptitious use as doping agents by endurance athletes and poorly understood efficacy in Duchenne muscular dystrophy (DMD), a genetic muscle-wasting disease. A defined molecular basis underlying these performance-enhancing properties of GCs in skeletal muscle remains obscure. Here, we demonstrate that ergogenic effects of GCs are mediated by direct induction of the metabolic transcription factor KLF15, defining a downstream pathway distinct from that resulting in GC-related muscle atrophy. Furthermore, we establish that KLF15 deficiency exacerbates dystrophic severity and muscle GC–KLF15 signaling mediates salutary therapeutic effects in the mdx mouse model of DMD. Thus, although glucocorticoid receptor (GR)-mediated transactivation is often associated with muscle atrophy and other adverse effects of pharmacologic GC administration, our data define a distinct GR-induced gene regulatory pathway that contributes to therapeutic effects of GCs in DMD through proergogenic metabolic programming.

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