Signs and Symptoms of Pompe disease

Watch the below video to find out more about when to suspect Pompe disease

Late Onset Pompe Disease (LOPD)

The most common clinical manifestations are progressive proximal muscle weakness and respiratory insufficiency²

• Respiratory muscle weakness

  • In a study of 92 children and adults with untreated LOPD, 74% of all patients had pulmonary dysfunction³

• Proximal muscle weakness

  • In a study of 94 adults with LOPD, shoulder, abdominal, paraspinal, and hip muscles were weakened in >80% of patients⁴

Progressive proximal muscle weakness and respiratory insufficiency² ultimately lead to a loss of ambulation and the need for ventilation support. Children and adults with Pompe disease show much greater heterogeneity than infants with the condition.^2,5,4

In practice, some of the visible signs and symptoms you may see in people with Pompe, include a waddling gait and difficulty rising from a standing position. Watch the following videos to see how these symptoms may present:

Gower's maneuver (reliance on the upper body to rise from a seated position)

Myopathic gait (imbalances walking due to weakness in the limb-girdle)

As the disease progress' difficulty climbing stairs will become more pronounced

As will difficulty reaching overhead

Some of the symptoms people with late-onset Pompe disease may experience include²

Cardiac involvement is rare in children and in adults with Late-Onset Pompe disease but pronounced in infantile onset.

Infantile Onset Pompe Disease (IOPD) – infants typically present with pronounced hypotonia, severe cardiomegaly⁸ and cardiomyopathy⁶

• Other signs include frequent respiratory infections, failure to reach motor milestones and difficulty feeding
• Patients with Pompe disease will exhibit progressive muscular weakness
• Pompe disease most commonly affects the proximal limbs and respiratory muscles, no matter the age of the patient⁶

Respiratory

Respiratory manifestations caused by diaphragm weakness can be the first indication of Pompe disease^9-11

If left untreated, Pompe disease can lead to respiratory failure – the most common cause of death in Pompe disease^2,10-12

Patients may notice the first signs of respiratory muscle dysfunction when lying down, including:^10,12,13

• Orthopnoea
• Hypoventilation, especially when lying down
• Sleep disordered breathing (SDB)
• Morning headache
• Dyspnoea at rest and after exercise
• Chronic respiratory insufficiency

Look out for other symptoms which may point towards Pompe disease:

• Reduced postural drop in forced vital capacity (FVC) of 25% from the sitting to the supine position^4,14,15
• Susceptibility to chest infections¹¹
• Post-operative failure to wean on to solid food due to muscle weakness¹⁶