scholarly journals A COMPARATIVE AYURVEDIC REVIEW OF ETIOPATHOGENESIS OF DUCHENNE MUSCULAR DYSTROPHY (INHERITED DISORDER)

2021 ◽  
Vol 12 (1) ◽  
pp. 124-125
Author(s):  
Ravi Shankar Khatri ◽  
Mridul Ranajan ◽  
Shalini .
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Inherited Diseases ◽  
Progressive Muscle Weakness

Duchenne muscular dystrophy (DMD) is an inherited disorder with severe progressive muscle weakness. In Ayurveda, Adibala Pravritta Vyadhi are also known as inherited diseases that caused by Matruja beeja dushti (Shonita) and Pitruja beeja dushti (Shukra). Duchenne muscular dystrophy (DMD) has been classified under Adibala Pravritta Vyadhi as per Ayurveda. The main objective of this article is to describe the various aspect of etiopathogenesis of Duchenne muscular dystrophy (DMD) as per Ayurvedic literature. This article will be helpful to making the Nidana (Diagnosis) as per Ayurveda and also help in the Chikitsa (Treatment) of Duchenne muscular dystrophy.

scholarly journals Duchenne Muscular Dystrophy - Family in a Crisis

1970 ◽  
pp. 36-39
Author(s):  
M Robed Amin ◽  
Chowdhury Chironjib Borua ◽  
Kaji Shafiqul Alam ◽  
Fazle Rabbi Chowdhury ◽  
Rabiul Jahan Sarkar ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Case Series ◽  
Dystrophin Gene ◽  
Muscle Disease ◽  
Motor Neuron Diseases ◽  
Muscle Diseases ◽  
Progressive Muscle Weakness ◽  
Recessive Disorders ◽  
Dystrophin Protein

Progressive muscular weakness with deformity leading to crippled states develop due to musculoskeletal and neurological disorders. Sometimes it is difficult to differentiate between primary muscle disease and neurological disease. But there is some classical presentation of muscle diseases which have its own entity and thus can be clinically differentiated from neurological disorder especially spinal cord and motor neuron diseases. Muscular dystrophy is one of those disorder with distinct clinical features. Muscular dystrophy refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness. Most types of MD are multi-system disorders with manifestations in body systems including skeletal system, the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs. Duchenne muscular dystrophy (DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked. Males are therefore affected by X-linked recessive disorders much more often than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Duchenne muscular dystrophy and Backers muscular dystrophy are caused by mutations of the gene for the dystrophin protein and lead to an overabundance of the enzyme creatine kinase. The dystrophin gene is the largest gene in humans. In this case series a family with three brothers suffering from Duchenne muscular dystrophy is described and review with literature was done.   doi:10.3329/jom.v10i3.2015 J Medicine 2009; 10 (Supplement 1): 36-39

scholarly journals Diagnosis of Duchenne Muscular Dystrophy using Raman Hyperspectroscopy

2020 ◽  
Author(s):  
Nicole M. Ralbovsky ◽  
Paromita Dey ◽  
Andrew Galfano ◽  
Bijan K. Dey ◽  
Igor K. Lednev
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Blood Serum ◽  
External Validation ◽  
Diagnostic Algorithm ◽  
Severe Form ◽  
Specific Method ◽  
Muscle Degeneration ◽  
Treatment Regimens ◽  
Progressive Muscle Weakness

AbstractDuchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood. DMD is known to trigger progressive muscle weakness due to skeletal muscle degeneration and ultimately causes death. There are limited treatment regimens available that can either slow or stop the progression of DMD. An accurate and specific method for diagnosing DMD in its earliest stages is needed to prevent progressive muscle degeneration and death. Current methods for diagnosing DMD are often laborious, expensive, invasive, and typically diagnose the disease later on it is progression. In an effort to improve the accuracy and ease of diagnosis, this study focused on developing a novel method for diagnosing DMD which combines Raman hyperspectroscopic analysis of blood serum with advanced statistical analysis. Partial Least Squares Discriminant Analysis (PLS-DA), was applied to the spectral dataset acquired from control and mdx blood serum of 3- and 12-month old mice to build a diagnostic algorithm. Internal cross-validation showed 95.2% sensitivity and 94.6% specificity for identifying diseased spectra. These results were verified using external validation, which achieved 100% successful classification efficiency at the level of individual donor. This proof-of-concept study presents Raman hyperspectroscopic analysis of blood serum as a fast, non-expensive, minimally invasive and early detection method for the diagnosis of Duchenne muscular dystrophy.

scholarly journals Wheat Kernel Ingestion Protects from Progression of Muscle Weakness in mdx Mice, an Animal Model of Duchenne Muscular Dystrophy

1996 ◽  
Vol 40 (3) ◽  
pp. 444-449 ◽  
Author(s):  
Christoph Hübner ◽  
Hans-Anton Lehr ◽  
Robert Bodlaj ◽  
Barbara Finckh ◽  
Konrad Oexle ◽  
...  
Keyword(s):  
Animal Model ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Mdx Mice ◽  
Wheat Kernel

scholarly journals Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

2011 ◽  
Vol 1 (2) ◽  
Author(s):  
Melinda F. Davis ◽  
Katalin H. Scherer ◽  
Timothy M. Miller ◽  
F. John Meaney
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Muscular Dystrophy ◽  
Disease Severity ◽  
Muscle Weakness ◽  
Respiratory Function ◽  
Rating Scale ◽  
Becker Muscular Dystrophy ◽  
Progressive Muscle Weakness ◽  
Lateral Sclerosis ◽  
Disease Specific

Reports an error in Davis et al. (2010).  The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum & Stambler, 1997).  Both scales are 10-item, disease-specific measures that assess mobility and respiratory function in individuals with progressive muscle weakness.  This error does not change the conclusions. DOI:10.2458/azu_jmmss_v1i2_davis

The association between muscle weakness and gait deviations in children with Duchenne muscular dystrophy

2017 ◽  
Vol 27 ◽  
pp. S99
Author(s):  
M. Goudriaan ◽  
N. Goemans ◽  
M. Van den Hauwe ◽  
K. Desloovere
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Weakness

scholarly journals Optimizing Bone Health in Duchenne Muscular Dystrophy

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Jason L. Buckner ◽  
Sasigarn A. Bowden ◽  
John D. Mahan
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Bone Mass ◽  
Bone Health ◽  
Fragility Fractures ◽  
Premature Death ◽  
Screening Methods ◽  
Mineral Density ◽  
Progressive Muscle Weakness ◽  
Spinal Imaging

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive muscle weakness, with eventual loss of ambulation and premature death. The approved therapy with corticosteroids improves muscle strength, prolongs ambulation, and maintains pulmonary function. However, the osteoporotic impact of chronic corticosteroid use further impairs the underlying reduced bone mass seen in DMD, leading to increased fragility fractures of long bones and vertebrae. These serious sequelae adversely affect quality of life and can impact survival. The current clinical issues relating to bone health and bone health screening methods in DMD are presented in this review. Diagnostic studies, including biochemical markers of bone turnover and bone mineral density by dual energy X-ray absorptiometry (DXA), as well as spinal imaging using densitometric lateral spinal imaging, and treatment to optimize bone health in patients with DMD are discussed. Treatment with bisphosphonates offers a method to increase bone mass in these children; oral and intravenous bisphosphonates have been used successfully although treatment is typically reserved for children with fractures and/or bone pain with low bone mass by DXA.

scholarly journals β-Glucans as Dietary Supplement to Improve Locomotion and Mitochondrial Respiration in a Model of Duchenne Muscular Dystrophy

Nutrients ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 1619
Author(s):  
Letizia Brogi ◽  
Maria Marchese ◽  
Alessandro Cellerino ◽  
Rosario Licitra ◽  
Valentina Naef ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Immune Responses ◽  
Mitochondrial Function ◽  
Mitochondrial Respiration ◽  
Life Quality ◽  
Adaptive Immune ◽  
Progressive Muscle Weakness ◽  
Diet Supplement ◽  
And Oxidative Stress

Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular childhood disorder that causes progressive muscle weakness and degeneration. A lack of dystrophin in DMD leads to inflammatory response, autophagic dysregulation, and oxidative stress in skeletal muscle fibers that play a key role in the progression of the pathology. β-glucans can modulate immune function by modifying the phagocytic activity of immunocompetent cells, notably macrophages. Mitochondrial function is also involved in an important mechanism of the innate and adaptive immune responses, owing to high need for energy of immune cells. In the present study, the effects of 1,3-1,6 β-glucans on five-day-old non-dystrophic and dystrophic (sapje) zebrafish larvae were investigated. The effects of the sonication of β-glucans and the dechorionation of embryos were also evaluated. The results showed that the incidence of dystrophic phenotypes was reduced when dystrophic embryos were exposed to 2 and 4 mg L−1 of 1,3-1,6 β-glucans. Moreover, when the dystrophic larvae underwent 8 mg L−1 treatment, an improvement of the locomotor performances and mitochondrial respiration were observed. In conclusion, the observed results demonstrated that 1,3-1,6 β-glucans improve locomotor performances and mitochondrial function in dystrophic zebrafish. Therefore, for ameliorating their life quality, 1,3-1,6 β-glucans look like a promising diet supplement for DMD patients, even though further investigations are required.

scholarly journals A motor axonopathy in a mouse model of Duchenne Muscular Dystrophy

2020 ◽  
Author(s):  
Justin S. Dhindsa ◽  
Angela L. McCall ◽  
Laura M. Strickland ◽  
Anna F. Fusco ◽  
Amanda F. Kahn ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Respiratory Failure ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Cause Of Death ◽  
Muscle Weakness ◽  
Common Cause ◽  
Skeletal Muscle Weakness ◽  
Nerve Dysfunction

AbstractSkeletal muscle weakness due to loss of dystrophin is a well-documented pathological hallmark of Duchenne muscular dystrophy (DMD). In contrast, the neuropathology of this disease remains understudied. Here, we characterize an axonopathy in the phrenic and hypoglossal (XII) nerves of mdx mice. We observe nerve dysfunction that we propose contributes to respiratory failure, the most common cause of death in DMD.

scholarly journals Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy

2020 ◽  
Vol 78 (3) ◽  
pp. 143-148 ◽  
Author(s):  
Thiago Henrique da SILVA ◽  
Isabela Pessa ANEQUINI ◽  
Francis Meire FÁVERO ◽  
Mariana Callil VOOS ◽  
Acary Souza Bulle OLIVEIRA ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Muscular Strength ◽  
Clinical Decision Making ◽  
Functional Performance ◽  
Muscular Weakness ◽  
Functional Impairments ◽  
Female Patients ◽  
Female Carriers

Abstract Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making. Objective: To investigate the motor and functional impairments of 10 female patients with dystrophinopathy diagnosed with clinical, pathological, genetic and immunohistochemical studies. Methods: A descriptive study of a sample of symptomatic female carriers of DMD mutations. The studied variables were muscular strength and functional performance. Results: The prevalence was 10/118 (8.4%) symptomatic female carriers. Deletions were found in seven patients. The age of onset of symptoms in female carriers of DMD was quite variable. Pseudohypertrophy of calf muscles, muscular weakness, compensatory movements and longer timed performance on functional tasks were observed in most of the cases. Differently from males with DMD, seven female patients showed asymmetrical muscular weakness. The asymmetric presentation of muscle weakness was frequent and affected posture and functionality in some cases. The functional performance presents greater number of compensatory movements. Time of execution of activities was not a good biomarker of functionality for this population, because it does not change in the same proportion as the number of movement compensations. Conclusion: Clinical manifestation of asymmetrical muscle weakness and compensatory movements, or both can be found in female carriers of DMD mutations, which can adversely affect posture and functional performance of these patients.

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