Werdnig-Hoffman Disease

Snapshot

An infant is brought to the pediatrician by his mother due pooling of saliva, a poor suck, and an inability to sit unsupported. The mother reports that the infant’s weakness has progressively worsened ever since birth. Examination is significant for tongue fasciculations and absent deep tendon reflexes. Bell-shaped deformity of the chest is appreciated. Molecular genetic testing for the SMN1 gene is ordered.

Introduction

Also known as infantile spinal muscle atrophy (SMA type 1)
- most common and severe form of the SMA disorders
- degeneration of the anterior horn → muscle weakness
  - lower brain stem and spinal cord
- autosomal recessive mutation in the SMN1 gene on chromosome 5q
- may present in utero
  - mother may notice decreased (or absent) fetal movement late in pregnancy
  - at times called SMA type 0
SMN protein
- may be involved in motor neuron mRNA synthesis
Epidemiology
- commonly presents in the neonatal period
- median survival is seven months
onset at birth

Presentation

Symptoms
- symmetric flaccid paralysis
  - most affected infants are hypotonic at birth
  - proximal muscle involvement
    - lower extremity greater than upper extremity
- sparing of upper cranial nerves
  - e.g., normal eye movements
Physical exam
- absent or decreased deep tendon reflexes
- tongue and finger fasciculatons
- infants have flaccid “frog-like” posture
restrictive respiratory insufficiency

Evaluation

Differential

Treatment

Prognosis, Prevention, and Complications

95% death by 18 months of age and 100% by four years of age
Development of kyphosis and scoliosis
Weakened pulmonary musclesd
- decreased respiratory support from musculature
- can lead to hypoxia and CNS damage
Malnutrition
- from difficulty in food intake
Immobility
- combination of muscle weakness and degenation along with a host of other orthopedic problems such as scoliosis