Duschenne’s Muscular Dystrophy

Duschenne Muscular Duschenne Muscular DystrophyDystrophy recessive X-linked form of muscular dystrophy

History:History:The disease was first described

by the Neapolitan physician Giovanni Semmola in 1834 and Gaetano Conte in 1836.

 DMD is named after the French neurologist Guillaume Benjamin Amand Duchenne (1806–1875)

Cause:Cause:

• Caused by a mutation in the dystrophin gene.

• Dystrophin gene- codes for the protein dystrophin, an important structural component within muscle tissue that provides structural stability to the dystroglycan comple (DGC) of the cell membrane.

Effect:Effect:The lack of dystrophin leads to

muscle fibre damage and a gradual weakening of the muscles.

Inheritance:Inheritance:

Sign and symptoms:Sign and symptoms:• Awkward manner of walking,

stepping, or running• Frequent falls• Fatigue• Difficulty with motor

skills (running, hopping, jumping)• Muscle contractures of achilles

tendon and hamstrings impair functionality

• Progressive difficulty walking

• Muscle fiber deformities• Pseudohypertrophy (enlarging) of tongue

and calf muscles• Higher risk of neurobehavioral disorders

(e.g., ADHD), learning disorders (dyslexia), and non-progressive weaknesses in specific cognitive skills (in particular short-term verbal memory), which are believed to be the result of absent or dysfunctional dystrophin in the brain.

• Eventual loss of ability to walk (usually by the age of 12)

• Skeletal deformities (including scoliosis in some cases)

Diagnosis:Diagnosis:DNA testMuscle biopsyPrenatal tests

Treatment:Treatment:

No treatment for the disease.Controlling the onset of symptoms

to maximize the quality of life is possible:

Corticosteroids such as prednisolone and deflazacort

Mild, non-jarring physical activityPhysical therapyOrthopedic appliances