Neuromuscular Disorders

Question 1

When should neuromuscular disorder be suspected?

Answer 1

• Baby ‘floppy’ from birth
• Slips from hands
• Paucity of limb movements
• Alert, but less motor activity
• Delayed motor milestones
• Able to walk but frequent falls

Question 2

Duchenne muscular dystrophy - aetiology

Answer 2

• Genetics
  
  • X linked gene - Xp21, dystrophin gene

Question 3

Duchenne muscular dystrophy - epidemiology

(age, sex, incidence)

Answer 3

• Most common occurring in childhood
• 1/3500 males

Question 4

Duchenne muscular dystrophy - presentation

Answer 4

• Symmetrical proximal weakness
  
  • Waddling gait, calf hypertrophy
  • Gower’s sign positive
• Cardiomyopathy

Question 5

Duchenne muscular dystrophy - investigations

Answer 5

• Bloods
  
  • CK (elevated)

Question 6

What is seen in the bloods for duchenne muscular dystrophy?

Answer 6

• Bloods
  
  • CK (elevated)

Question 7

Other than Duchenne muscular dystrophy, what are other neuromuscular conditions in children?

Answer 7

• Myopathic facies
• Myotonic

Question 8

Describe the anatomical approach for weakness?

Answer 8

• Muscle
  
  • Muscular dystrophies, myopathies (congenital and inflammatory), myotonic syndromes
• Neuromuscular junction
  
  • Myasthenic syndromes
• Nerve
  
  • Hereditary or acquired neuropathies
• Anterior horn cell disease
• Spinal muscular atrophy

Question 9

What are different differentials for weakness?

Answer 9

• Muscle
  
  • Muscular dystrophies, myopathies (congenital and inflammatory), myotonic syndromes
• Neuromuscular junction
  
  • Myasthenic syndromes
• Nerve
  
  • Hereditary or acquired neuropathies
• Anterior horn cell disease
• Spinal muscular atrophy

Question 10

What is the difference between neuropathy and myopathy:

• site of weakness
• sensory
• motor
• fasciculations
• contractures
• myocardial dysfunction

Answer 10