Neuromuscular Disorders

Question 1

When should you suspect a neuromuscular disorder?

Answer 1

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

Question 2

What is Duchenne muscular dystrophy?

Answer 2

Xp21, dystrophin gene, 1/3500 male infants

Question 3

How does DMD present?

Answer 3

Delayed gross motor skills
Symmetrical proximal weakness
-Waddling gait
-Calf hypertrophy
-Gower’s sign positive

DMD

Question 4

What are the clinical markers of DMD?

Answer 4

Elevated creatinine kinase levels (>1000)

Cardiomyopathy

Respiratory involvement in teens

Question 5

What is Charcot-Marie-Tooth disease?

Answer 5

A hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body

Question 6

Which neuromuscular conditions affect muscle?

Answer 6

Muscular dystrophies
Myopathies - congenital and inflammatory
Myotonic syndromes

Question 7

Which neuromuscular conditions affect neuromuscular junctions?

Answer 7

Myasthenic syndromes

Question 8

Which neuromuscular conditions affect nerves?

Answer 8

Hereditary or acquired neuropathies

Question 9

Which neuromuscular conditions affect muscle?

Answer 9

Spinal muscular atrophy

Question 10

What are the difference in site of weakness between neuropathy and myopathy?

Answer 10

Neuropathy - distal weakness

Myopathy - usually proximal

Question 11

What are the difference in sensory loss between neuropathy and myopathy?

Answer 11

Neuropathy - may have sensory symptoms and signs

Myopathy - usually pure motor

Question 12

What are the difference in reflex changes between neuropathy and myopathy?

Answer 12

Neuropathy - reflexes lost early

Myopathy - reflexes preserved until late

Question 13

What are the difference in fasiculations between neuropathy and myopathy?

Answer 13

Neuropathy - may be present

Myopathy - not typical

Question 14

What are the difference in contractures between neuropathy and myopathy?

Answer 14

Neuropathy - contractures not a feature

Myopathy - contractures present

Question 15

What are the difference in myocardial dysfunction between neuropathy and myopathy?

Answer 15

Neuropathy - not a typical feature

Myopathy - may have accompanying cardiac dysfunction with muscle dystrophies