Symptoms

Pompe Disease from Tracy on Vimeo.

Thank you to the Australian Pompe Association for this great video

Classification

  • Infantile onset
  • Late onset

Symptoms of Infantile Pompe

Infantile Pompe is the result of complete or near complete deficiency of GAA.  Respiratory difficulties are often complicated by lung infections.  Most babies with Pompe disease die from cardiac or respiratory complications before their first birthday if not treated.

Infantile, or early onset, is noticed shortly after birth. Symptoms include:

  • severe lack of muscle tone,
  • weakness
  • enlarged liver
  • enlarged heart
  • feeding problems 
  • poor weight gain 
  • floppiness 
  • head lag
  • difficulty swallowing 
  • the tongue may protrude and become enlarged


Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses.

Symptoms of Adult Onset Pompe

Late onset Pompe disease is the result of a partial deficiency of GAA.  The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood.  The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. ​

Adult onset symptoms can involve some or all of the below:

  • generalized muscle weakness
  • wasting of muscles in the trunk, lower limbs, and diaphragm
  • report respiratory distress – commonly misdiagnosed as asthma
  • headache at night or upon waking
  • diminished deep tendon reflexes
  • proximal muscle weakness
  • difficulty climbing stairs.
  • sore lower back
  • sore calf muscles
  • difficulty rising from a seated position
  • constant chatter your head
  • total lack of energy during the day
  • sleeping most of the day due to a feeling of total exhaustion
  • horrific nightmares
  • cold sweats at night
  • muscle twitches
  • constant coughing

Intellect is not affected.  A small number of adult patients live without major symptoms or limitations.  A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample – a test that has 100 percent accuracy.  Once Pompe disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended.  Carriers are most reliably identified via genetic mutation analysis.