Neurology: Disorder Of Anterior Horn Cell

Question 1

If the anterior horn cells are affected, is this a central or peripheral motor disorder?

Answer 1

Peripheral

Question 2

How do they present?

Answer 2

Weakness
Wasting
Areflexia

Question 3

What disorders of the anterior horn cell are there?

Answer 3

Spinal muscular atrophy

Poliomyelitis

Question 4

Has poliomyelitis been almost eradicated?

Answer 4

Yes by immunisation

Question 5

Describe spinal muscular atrophy

Answer 5

Autosomal recessive degeneration of anterior horn cells
Leading to progressive weakness and wasting of skeletal muscles due to mutations in the survival motor neurone gene
A number of phenotypes are recognised

Question 6

Spinal muscular atrophy is the second most common cause of neuromuscular disease in the UK after…

Answer 6

Duchenne muscular dystrophy

Question 7

When does spinal muscular atrophy type 1 present?

Answer 7

From birth to 3m

Question 8

How does spinal muscular atrophy type 1 present?

Answer 8

Diminished fetal movements during pregnancy
Positional deformities of limbs and contractures of at least 2 joints at birth
Typical signs:
Alert expression
Fasiculation of tongue
Symmetrical flaccid paralysis
Absent deep tendon reflexes
Intercostal recession
Weakness of bulbar muscles - weak cry, poor suck, secretion pooling

Question 9

Do children with spinal muscular atrophy sit unaided?

Answer 9

No

Question 10

What causes death in spinal muscular atrophy type 1 at around 12m?

Answer 10

Respiratory failure

Question 11

Are there milder forms of spinal muscular atrophy?

Answer 11

Yes - type 2 presents later and can sit but never walk independently
Type 3 present after 1 year and can walk

Question 12

Is spinal muscular atrophy progressive?

Answer 12

Yes