Pompe Disease

Clinical manifestations

The clinical manifestations of Pompe disease may present individually or as a suspicious cluster of symptoms, depending on the patient. The following are among the most common signs and symptoms recorded in the literature for the two phenotypes. In the infantile-onset form, the signs and symptoms tend to present swiftly while in the late-onset form, the disease is more slowly progressive. Cognitive function is generally normal in patients with Pompe disease.

Progressive muscle weakness

Profound hypotonia

Macroglossia (and in some cases, protrusion of the tongue)

Cardiomegaly (massive) and/or cardiac failure

Respiratory insufficiency

Failure to meet developmental motor milestones

Hepatomegaly (moderate)

Difficulty swallowing, sucking, and/or feeding

Laxity of facial muscles

Areflexia

Progressive proximal muscle weakness, especially in the trunk

Progressive muscle weakness in the lower limbs

Respiratory insufficiency

Exercise intolerance

Exertional dyspnea

Orthopnea

Sleep apnea

Morning headaches

Somnolence

Lordosis and/or scoliosis

Hypotonia