Myotonic_Dystrophy_Presentationforp.pptx

About a disease

1. Myotonic Dystrophy An Overview of a Rare Genetic Disorder Presented by: Himanshu Kumar

2. Introduction • A genetic, progressive muscle disorder. • Causes weakness and prolonged muscle contractions. • Most common form of adult muscular dystrophy.

3. Types • Type 1 (DM1) – Steinert’s disease (more severe, earlier onset). • Type 2 (DM2) – Proximal myotonic myopathy (milder, later onset).

4. Causes & Genetics • Mutation in DMPK gene (DM1) or CNBP gene (DM2). • Autosomal dominant inheritance. • Expansion of CTG or CCTG repeats in DNA.

5. Symptoms • Muscle weakness (face, neck, arms, legs). • Myotonia (delayed relaxation after contraction). • Fatigue. • Cardiac issues (arrhythmias). • Cataracts. • Difficulty swallowing and breathing. • Cognitive and emotional issues.

6. Complications • Heart problems (life-threatening). • Respiratory failure. • Difficulty during childbirth (congenital form). • Risk of diabetes and thyroid disorders.

7. Diagnosis • Clinical examination. • Genetic testing (DNA test for CTG/CCTG repeats). • Electromyography (EMG). • Family history.

8. Treatment & Management • No cure available. • Symptomatic treatment: - Medications for myotonia (e.g., mexiletine). - Pacemakers for heart issues. - Physical therapy, speech therapy. • Lifestyle: regular exercise, avoid stress. • Genetic counseling.

9. Prognosis • Progressive condition with variable severity. • Lifespan may be shortened in severe DM1 cases. • Supportive care improves quality of life.

10. Research & Future • Gene therapy and RNA-based treatments under study. • Ongoing clinical trials for new medications.

11. Conclusion • Myotonic dystrophy is a genetic progressive disorder. • Early diagnosis and supportive care are vital. • Research offers hope for future therapies.

12. References • WHO and NIH medical resources. • Standard medical genetics textbooks. • Recent research publications.