30. Neuromuscular disorders in children

Question 1

Neuromuscular disorders:

Answer 1

• Anterior horn cell disorders: spinal muscular atrophy
• Muscle disorders: muscular dystrophies, myopathies
• Peripheral nerve disorders: Charcot Marie-Tooth disease
• Neuro-muscular junction: Myasthenia gravis

Question 2

Spinal Muscular Atrophy symptoms:

Answer 2

• 5 month old
• Not holding head
• Difficulty feeding
• Smiling and alert
• Not moving much
• Hyporeflexia
• Low tone

Question 3

Spinal muscular atrophy:

Answer 3

• Genetic disorder
• Defect in SMN1 gene
• Progressive muscle weakness/atrophy
• Clinical spectrum
• No cure

Question 4

Investigation for spinal muscular atrophy:

Answer 4

Gene testing

Question 5

Course of spinal muscular atrophy:

Answer 5

Scoliosis, contractures, ventilatory and feeding support

Question 6

Drug for spinal muscular atrophy:

Answer 6

Nusinersen

Question 7

Muscular dystrophies:

Answer 7

• Genetic disorders
• Damage to muscle over time
• Progressive decline
• Variable onset age, severity, muscle group and system affection
• No cure

Question 8

Muscular dystrophies symptoms:

Answer 8

• 4 year old
• Weakness, wasting, contractures
• Footballers calves, gait difficulties,
• Can’t run, frequent falls, muscle cramps
• Starts walking >2 years

Question 9

3 muscular dystrophies:

Answer 9

• Duchenne muscular dystrophy
• Charcot Marie-Tooth disease
• Myasthenia Gravis

Question 10

Duchenne Muscular Dystrophy:

Answer 10

• X linked genetic disorder
• Lack of dystrophin protein
• Progressive muscle weakness
• Present between 2-3 years old with developmental delay, gait difficulties, delay in diagnosis by 2-3 years

Question 11

Investigations for Duchenne Muscular Dystrophy:

Answer 11

Creatinine kinase elevated, genetic testing + muscle imaging, nerve conduction study, EEG/EMG, muscle biopsy

Question 12

Management of Duchenne Muscular Dystrophy:

Answer 12

Steroids slow down the decline in muscle strength and delay complications

Question 13

Charcot Marie-Tooth disease:

Answer 13

• Genetic disorder - Hereditary motor and sensory neuropathy
• Progressive deformity
• Nerve conduction testing, genetic testing
• No cure

Question 14

Motor and sensory symptoms in Charcot Marie-Tooth disease:

Answer 14

• Weakness and wasting of muscles

- Numbness in hands and feet

Question 15

Myasthenia Gravis:

Answer 15

• Chronic, autoimmune condition
• Causes muscle weakness and excessive muscle fatigue
• Antibodies to Acetylcholine receptors

Question 16

Main characteristics of myasthenia gravis:

Answer 16

Antibodies to acetylcholine receptors

Question 17

Investigations for myasthenia gravis:

Answer 17

EMG testing, antibody testing

Question 18

Drugs for Myasthenia Gravis:

Answer 18

Anti-cholinergic drugs, immunosuppression