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what is Duchenne muscular dystrophy?
Genetic basis and progression of DMD.
• Epidemiology - affecting young males.
• The role of dystrophin and genetic mutations.
• Clinical features and diagnostic approaches.
• Current management and emerging treatments
what are the clinical signs of DMD?
progressive weakness
spinal deformity
pseudohypertrophy of calf muscles
cardiopulmonary involvement
what impact does DMD have on patients?
physiological and social challenges
physical limitations and medical complications
respiratory failure common cause of death
what is the molecular basis of Duchenne muscular dystrophy?
Dystrophin's role in muscle cell integrity.
Molecular consequences of dystrophin loss.
Inflammatory response and muscle degeneration process.
Insights into therapeutic target development.
Dystrophin's role in muscle cell integrity.
Molecular consequences of dystrophin loss.
Inflammatory response and muscle degeneration process.
Insights into therapeutic target development
what effects can mutations cause on DMD?
progressive loss of muscle function
chronic inflammation and fibrotic replacement
muscle cell membrane vulnerability
disruption of the dystrophin-associated glycoprotein complex
what are diagnostic approaches for DMD?
step-by-step diagnostic framework
Genetic testing methodologies and their utility -Multiplex ligation-dependent probe amplification (MLPA) and next- generation sequencing (NGS)
what is the role of genetic testing and molecular analysis?
Impact of molecular findings on prognosis and treatment.
• Mutation identification and its significance.
• Molecular analysis in the context of personalizedmedicine.
how can diagnosis results be interpreted?
implications for patients and families
the necessity of genetic counselling in result interpretation
what are management and treatment strategies?
potential of gene-targeted therapies
importance of a multidisciplinary approach
supportive and symptomatic treatments
what are novel therapeutic approaches?
exon skipping and ASO technology
future directions in DMD therapeutics
gene therapy and its potential for disease modification
what is prenatal diagnosis?
Importance of genetic counselling in DMD.
The role of carrier testing for family members.
Guidance for family planning and reproductive choices.
Supportive role of genetic counsellors.
The significance of early detection through prenatal testing.
Available techniques: CVS and amniocentesis.
Exploring the foetal DNA for DMD mutations.
