muscular dystrophy

1. MUSCULAR DYSTROPHY

2. • Causes
• Inheritance
• Dominant genes
• Recessive gene
Depends on the age when symptoms appear, and the
types of symptoms that develop.
• Risk
• Because these are inherited disorders, risk include a
family history of muscular dystrophy
How Many People Are Affected
It is estimated that between 50,000 -250,000 are
affected annually. 1 per 3500 live male births

4. • Muscular dystrophy is a heterogeneous
group of inherited disorders recognized
weakness and loss of muscle
by progressive degenerative muscle
tissue
(started in childhood).
• Affect muscles strength and action.
• Generalized or localized.
• Skeletal muscle and other organs may
involve
• Limitation: Difficulties with walking or Maintaining posture,
Muscle spasms. Neurological, Behavioral, Cardiac, or other
Functional limitations.

8. Classification
DMD, BMD,
• Sex-linked:
EDMD
• Autosomal recessive: LGMD,
infantile FSHD
• Autosomal dominant: FSHD,
distalMD, ocular MD,
oculopharyngeal MD.

11. Duchenne Muscular Dystrophy
Guillaume Benjamin Amand Duchenne
(French neurologist, 1860s)

12. • Etiology
▫ single gene defect
▫ Xp21.2 region
▫ absent dystrophin

14. • Most common
• male, Turner
syndrome
• 1:3500 live
male birth
• 1/3 new
mutation
• 65% family
history

15. Clinical manifestation
• Onset : age 3-6
years
• Progressive
weakness
• Pseudohypertrophy
of calf muscles
• Spinal deformity
• Cardiopulmonary
involvement
• Mild - moderate MR

16. Natural history
• Progress slowly
and continuously
• muscle weakness
▫ lower -->
upper
extremities
• unable to ambulate:
10 year (7-12)
• death from pulmonary/
cardiac failure: 2-3rd
decade

19. Pseudohypertrhophy of calf muscle, Tip toe gait
forward tilt of pelvis, compensatory lordosis

20. Disappearance of
lordosis while sitting

21. DMD: Diagnosis
• IncreaseCPK
(200x)
• Myopathicchangein
EMG
Bx:m. degeneration
• Immunoblotting:
Absencedystrophin
•• DNA mutation analysis