Myotoniuc dystrophy

1. Myotonic
dystrophy
Irfan khan

2. Myotonic dystrophy
 Myotonic dystrophy also known as
steinerts disease
 In this type of muscular dystrophy stiffnes
in muscle occur due to this inability to
relaxe muscle at own will specifically
called myotonia(prolonged muscle
contraction)
 Volunatry muscle become weaker
 Muscle weakness is also another type of
muscular dystrophy

3.  Due to absence of muscle protein
dystrophine
 Progressive crippling, resulting in
contractures of the muscles around your
joints and loss of mobility

4.  This begins in adulthood
 Myotonic dystrophy affects at least 1 in 8000
people worldwide
 mostly male affected
 DMD- before 5 years ,BMD- between 5-12
 Upper arms , upper legs firstly show
weakness
 Other body parts also affected…..
 Hearts, diaphragm, chest muscle etc and so
on……….

5. Genetic correlation and
causes
 The genetic change (mutation) that
causes Myotonic Dystrophy is in the DMPK
gene which code for myotonic dystrophy
protein kinase found on long arm of
chromosome 19.
 Dmpk predominantly expressed in skeletal
muscle
 Cytosine-thymine-gyuanine(CTG) triplet
repeat in the dmpk gene.

6. symptoms

9. Treatment
 No cure for any form of muscular dystrophy
 genetic therapy
 Stretching exercises and postural changing
 Goal is to maintain or improve muscle
strength and maximize functional ability –
slight improvement is possible
Surgery for tendon release