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Werdnig-Hoffman Disease

Topic updated on 02/28/17 7:29am

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 sWHDpinal 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
  • Molecular genetic testing
    • confirms the diagnosis
  • Electromyography (EMG)
    • fibrillations and sharp waves
  • Muscle biopsy
Differential
  • Congenital myasthenia syndromes
  • Congenital myopathy
Treatment
  • Supportive
    • ensure nutritional support and respiratory assistance
    • manage weakness
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
  • Weakened pulmonary muscles, decreased respiratory support from musculature
    can lead to hypoxia, CNS damage
    malnutrition
    from difficulty in food intake
    mobility



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