Myotonic dystrophy

Irfan khan

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

Due to absence of muscle protein dystrophine

Progressive crippling, resulting in contractures of the muscles around your joints and loss of mobility

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……….

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.

symptoms

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