Neuromuscular disease

Question 1

Floppy infant differentials in the brain

Answer 1

• sepsis
• metabolic
• inborn errors of metabolism

Question 2

Floppy infant differentials in the spine

Answer 2

• injury
• amyoplasia
• anterior horn cell disease (SMA)

Question 3

Floppy infant differentials in the peripheral nerves

Answer 3

• congenital hypomyelinating disorders

- neonatal GBS

Question 4

Floppy infant differentials in the NMJ

Answer 4

• congenital myasthenia

- botulism

Question 5

Floppy infant differentials in the muscles

Answer 5

• congenital myopathies
• congenital dystrophies
• congenital myotonic dystrophy

Question 6

How many types of SMA are there?

Answer 6

3 (most are type 2)

Question 7

Approach to the types of SMA

Answer 7

Type 1 (Supportive, not for ventilation)
Types 2 (lots of physio, monitor back, schooling)
Type 3 (counselling)

Question 8

What does AIDP stand for?

Answer 8

Acute inflammatory demyelinating polyradiculopathy

Question 9

What does HMSN stand for?

Answer 9

Hereditary motor sensory neuropathy

Question 10

SMARD

Answer 10

Spinal musclar atrophy with respiratory distress

Question 11

Characteristics of SMARD 1

Answer 11

• infantile onset
• irreversible distal weakness
• diaphragmatic dysfunction
• ventilator dependence
• normal intellect
• gene identified

Question 12

Characteristics of Duchenne Muscular Dystrophy

Answer 12

• X-linked
• presents between 2-4 years
• language delay
• symptomatic treatment

Question 13

Type of inflammatory myopathies

Answer 13

Dermatomyositis