by hafiz m Waseem university of education Lahore

2. HAFIZ M WASEEM UNIVERSITY OF
EDUCATION LAHORE

3. PRESENTATION OF:
MUSCULAR DYSTROPHY

4. CONTENTS
• Introduction
• Types
• Symptomes
• Inheritance
• Treatment
• References

5. DEFFINATION
The heterogenous group of inherited disorders characterized by progressive muscle
weakness and progressive muscle degeneration are termed as muscle dystrophy.
• The group of inherited, progressive muscle disorders caused by mutations in
genes encodingg proteins required for normal muscle function are termed as
muscle dystrophy.

6. EXPLANATION
• Muscular dystrophy can occur at any age, but most diagnoses occur in childhood.
• Young boys are more likely to have this disease than girls.
• The prognosis for muscular dystrophy depends on the type and the severity of
symptoms.
• There are more than 30 different types of muscular dystrophy, which vary in
symptoms and severity.

7. TYPES:
• Myotonic.
• Duchenne.
• Becker.
• Limb-girdle.
• Facioscapulohumeral.
• Congenital.
• Oculopharyngeal.
• Distal.

8. SYMPTOMS
• Frequent falls.
• Difficulty rising from a lying or sitting position.
• Trouble running and jumping.
• Waddling gait.
• Walking on the toes.
• Large calf muscles.
• Muscle pain and stiffness.
• Learning disabilities.

10. INHERITANCE OF MUSCULAR DYSTROPHY
• There are three examples of legacy of muscle dystrophies.
• X-linked Recessive inheritance
• Autosomic Recessive inheritance
• Autosomic dominant inheritance

11. X-LINKED RECESSIVE INHERITANCE
• In this sort the unusual quality that cause muscle dystrophy present on X
chromosome.
• Just young men will be influenced on the off chance that they get defective X
chromosome from transporter mother.
• Eg Duchenne muscle dystrophy

12. AUTOSOMIC RECESSIVE INHERITANCE
• In this sort of muscle dystrophy, the influenced offspring of either sex have gotten
broken quality from the two guardians neither of them has manifestations of
muscle dystrophy.
• Eg : Limb Girdle muscle dystrophy type II

13. AUTOSOMIC DOMINANT INHERITANCE
• In this kind of acquired muscle dystrophy, the kid got broken quality from one
parent.
This influenced parent has sickness which is might be gentle and stay unnoticeable
Eg : Facioscapulohumeral dystrophy
• Oculo-pharyngeal muscle dystrophy
• Myotonic muscle dystrophy

14. TREATMENT OF MUSCLE DYSTROPHIES
• Medication
• Physical therapies
• Gene theropy
• RNA fixed
• Surgery if needed

15. REFERENCES
• Barohn RJ, Amato AA, Griggs RC. Overview of distal myopathies: from the
clinical to the molecular. Neuromuscul Disord 1998;8(5):309–316
• 2.Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding
laminin A/C
cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet
1999;21:285–288
• 3.Deconinck N, Tinsley J, De Backer F, et al. Expression of truncated utrophin
leads to major functional improvements in dystrophin-deficient muscles of mice.
Nat Med 1997;3(11):1216–1221