Pompe Disease – Symptoms

Infants have the most severe form of Pompe disease known as ‘Infantile Onset‘, and can develop symptoms anytime within the first twenty four months of life. These can include the following:

  • Feeding problems
  • Poor weight gain
  • Muscle weakness
  • Floppiness
  • Head Lag
  • Respiratory difficulties
  • Enlarged heart
  • Enlarged liver
  • Enlarged tongue

The ‘infantile’ form of Pompe Disease will progress very quickly and, without treatment, these babies may not live longer than twelve months.

Juvenile Onset‘ Pompe disease also has the potential to progresses quickly and requires urgent treatment. Juvenile Pompe disease presents anytime between the age of 2 years to 18 years.

Adult Onset‘ Pompe disease is the result of a partial deficiency of the enzyme acid alpha glucosidase. If a patients symptoms present after 18 years of age they are considered to have ‘adult onset’ Pompe disease.

Symptoms for juvenile & adult onset Pompe disease will vary from patient to patient and may include the following:

  • Progressive muscle weaknessss
  • Excessive tiredness
  • Walking with a distinct leaning-back (lordosis) and, or a hip swinging gait
  • Problems with walking
  • Unable to run
  • Poor balance and often falling for no apparent reason
  • Struggling, or being unable to climb steps or stairs, even with the support of a hand rail
  • Struggling to rise from a seated position
  • Struggle to straighten up from a bent-over position
  • Difficulty rolling over when in bed
  • Difficulty in raising arms, as in combing hair or hanging washing on the line
  • Struggling to get into, or out of, a car
  • Difficulties with eating
  • Shortness of breath
  • Breathing difficulties
  • Restlessness in sleep and waking up many times through the night
  • Waking with headaches
  • Sleep apnea

The level of progression is different for each adult onset patient, however the average life expectancy for a patient not treated is 55 years of age (Orphanet Journal of Rare Disease 2011 6:34). Treatment for Pompe disease for all Australians is government funded subject to treatment guidelines.

For information on testing for pompe click here

Its' time to get answers, If these symptoms seem familiar, you may want to learn about Pompe disease.

IMPORTANT: This information is intended to provide general information in regard to the matter covered. It is provided as a public service by the Australian Pompe Association. Medicine is constantly changing and human error and changes in practice make it impossible to certify the accuracy of such complex material. Confirmation of this information from your doctor or medical practitioner is required.