• Classic form – of Pompe is seen within a few months of birth. Infants begin to experience poor muscle tone (hypotonia), enlarged liver (hepatomegaly), cardiac defects and muscle weakness (myopathy). Babies usually present with respiratory issues and this can even lead to pneumonia and fatality if untreated.
• Non-classic form – of Pompe usually presents around the age of 1. Babies usually have difficulties with motor skills. They may not be able to sit up on their own, crawl or walk. Muscle weakness is progressive coupled with degenerating heart and respiratory issues. Untreated children with Pompe may not make it beyond the age of 5.
• Late onset – is the mildest form of Pompe. It may not appear until late childhood, adolescence or even adulthood. Most people with this type of Pompe experience weakness in the lower limbs. Progressive muscle weakness can ultimately lead to cardiac and respiratory issues.

• Progressive muscle weakness (floppy babies)
• Low muscle tone (hypotonia)
• Breathing issues
• Cardiomyopathy (abnormal thickening of the walls of the heart)
• Failure to achieve milestones like turning over, crawling, sitting up, walking
• Legs rest in frog position
• Infants present with a large protruding tongue
• Liver enlargement
• Feeding and swallowing difficulties
• Non-classic Pompe patients may experience weakness in lower limbs
• Scoliosis or curvature of the spine is common in adolescent Pompe

• biochemical tests – to measure the activity level of the enzyme GAA. Individuals with Gaucher will have low levels of this enzyme activity. Other tests like Creatinine Phosphokinase (CPK) may also be done. An electrocardiogram may be done to see if the heart is enlarged.
• molecular test – DNA tests like Next Generation Sequencing (NGS) to locate the exact mutation causing the form of Pompe. This test is basically a DNA analysis of the GAA gene.

Currently, no permanent cure is available for Pompe. Treatment is aimed at preventing complications and enabling independent living. An interdisciplinary team of doctors including pediatricians, neurologists, orthopedicians, pulmonologist, cardiologist and physiotherapists will be required to take care of the clinical needs of the child/adult. In the early stages when just diagnosed, it is important to immediately start ERT treatment to prevent further deterioration and prevent organ damage.

ERT involves balancing low levels of GAA with external enzymes like recombinant human acid α-glucosidase. This is an intravenous (IV) infusion every 2 weeks which can even be taken at home. ERT helps in reducing symptoms like hepatosplenomegaly, bone weakness and low platelet counts. Currently, the enzyme is manufactured and marketed by Sanofi Genzyme under the name Myozyme in India. The company has a charity access program under which many children’s lives have been saved by supplying free ERT.

Supportive treatment may include respiratory support like bipap or ventilators if needed. Physiotherapy is highly recommended to preserve muscle strength. Wheelchairs may be required in some cases. Orthopedic surgeries for scoliosis may become necessary at some point in time. Some children also required feeding and nutritional support with the aid of a feeding tube and special high-calorie supplements.

Investigational therapies like gene therapy and gene editing are in the clinical research stage and proving to be exciting. Gene therapy involves transducing a functional GAA gene in the liver cells in vivo or ex vivo through bone marrow transplants. It may not be far when patients with Pompe may be able to access such permanent curatives.

If there is a known case of Pompe in the family, it is absolutely essential for closest female relatives like siblings, uncles, aunts and cousins to test for carrier status.

If a woman with a carrier status is pregnant, prenatal test is essential to determine if the fetus has the disease mutation.