Duchenne Muscular Dystrophy (DMD)
The term "Muscular dystrophy" refers to a group of inherited progressive muscle disorders.
Degeneration of muscle fibres occurs, without morphological change.
Affects 1 per 3500 live male births.
The process is non-inflammatory with no central / peripheral nerve abnormalities.
Guillaume Duchenne (a French neurologist) reported on 13 patients with the condition.
The most severe and common form Of Muscular Dystrophy is named after him.
Becker Muscular Dystrophy is the 2nd most common and most mild form.
Aetiology - The condition occurs due to defects in the gene coding for dystrophin.
Dystrophin is a very large protein and errors can sometimes occur at multiple sites.
It is found in skeletal (striated), smooth & cardiac muscle fibres and also in the brain.
1 in 3 cases occur due to a spontaneous new mutation.
#Duchenne #MuscularDystrophy #DMD #Diagnosis #Features #Signs #Genetics