PPT

1. DUCHENNE MUSCULAR DYSTROPHY
Raja Mohamed

2. Where does DMD occur?
All muscles of the body
What is Duchenne muscular dystrophy?
Muscular Dystrophy
• Muscle Wasting
• Muscle Weakness
lack of dystrophin

4. CAUSES
Mutation of the Dystrophin gene at locus Xp21, located on the short arm of the X chromosome

5. TREATMENT
No cure
Gene therapy has shown some success
Aimed at controlling the onset of symptoms to maximize the quality of life
PHYSICAL THERAPY
Maintain muscle strength, flexibility, and function
Minimize the development of contractures and
deformity by developing a programme of stretches
and exercises
Inactivity (bed rest) can worsen the muscle disease
RESPIRATION ASSISTANCE
Volume ventilators/respirators for Muscular dystrophy-related respiratory problems

6. CORTICOSTEROID THERAPY
• PREDNISOLONE
• PREDNISONE
• DEFLAZACORT
• A common regimen is to offer
corticosteroids at the time of decline of
muscle strength and frequent falls
• Treatment is ceased when the child is no
longer ambulant.

7. PREDNISONE
• 0.75mg/kg/day
• Average muscle strength increased by 11%
• Strength increased significantly by 10 days, reached a
maximum at 3 months, and was maintained at 6 and
18 months
• Forced vital capacity improved significantly (10.5%
higher) after 6 months of daily prednisone.
• In case of side effects – A gradual tapering of
prednisone to as low as 0.3 mg/kg per day

8. DEFLAZACORT
• 0.9mg/kg/day
• Alternate day treatment with 2mg/kg every
other day for 2 years was beneficial in one
study.
• The mean prolongation of ambulation was
13 months.

9. WHATS NEW
• β2 agonists increase muscle strength, but do not modify disease progression
• CASIMERSEN was approved for medical use in the United States in February 2021
• Antisense oligonucleotide medication
• People who have a confirmed mutation of the dystrophin gene that is amenable to exon 45 skipping.

10. What is Duchenne muscular dystrophy? - Duchenne and You
https://duchenneandyou.eu/what-is-duchenne-muscular-dystrophy/
Steroid treated DMD patient walking at age 17 years. | Download Scientific Diagram
(researchgate.net)
Pharmacotherapy of Duchenne Muscular Dystrophy - PubMed (nih.gov)
Duchenne Muscular Dystrophy (DMD) - Diseases | Muscular Dystrophy Association (mda.org)
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives (nih.gov)
REFRENCE

11. THANK YOU