Diseases of the Nucleus

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.