Duchenne Muscular Dystrophy

Question 1

What is duchenne muscular dystrophy?

Answer 1

Genetic disorder that causes progressive muscle wasting and weakness

Question 2

Pathogenesis of Duchenne muscular dystrophy?

Answer 2

• Inherited X-linked recessive disorder (although up to a third are spontaneous)
• Usually a large scale deletion or duplication is responsible
• Mutation is dystrophin gene that codes for dystrophin proteins that connect proteins that connect actin filaments to cell membrane and ECM

-Mutation results in progressive loss of muscle cells causing muscle wasting and weakness

Question 3

Presnetation of Duchenne Muscular Dystrophy?

Answer 3

• Developmental delay in boys
• Boy not walking at 18 months old is a red flag for DMD
• Gower’s signs: boy puts their hands to push them up
• Toe walking
• Exaggerated lumbar lordosis
• Calf hypertrophy

Question 4

Investigations for Duchenne’s Muscular dystrophy?

Answer 4

• Initial screening is to look for raised creatinine kinase

- Official diagnosis is made with genetic testing

Question 5

Management of Duchenne Muscular Dystrophy?

Answer 5

-No curative treatment and boys are usually severely disabled by age 10 and ultimately die sometime in 20s

• Sometimes steroids delay progression
• Physiotherapy can help prevent contractures in later stages