Pompe disease
Shown below are possible signs and symptoms of Pompe disease. Absence of a particular symptom does not rule out this disease.
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Musculoskeletal
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- Progressive muscle weakness
- Profound hypotonia
- Macroglossia
- Floppiness in infantile-onset (“floppy baby”), head lag
- Unsteady gait, toe walking
- Abnormal spinal curvature, lower back pain
- Scapular winging
- Failure to meet developmental motor milestones (climbing stairs, exercise intolerance)
- Fatigue
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Other Symptoms
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Pulmonary:
- Respiratory insufficiency/failure
- Frequent respiratory infections
- Orthopnoea
- Sleep apnoea
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Patient with requirement for non-invasive ventilatory support
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Cardiac:
- Cardiomegaly (massive)
- Left ventricular hypertrophy
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Visceral/Gastrointestinal:
- Difficult swallowing and chewing
- Hepatomegaly
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Other:
- Morning headaches
- Daytime somnolence
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Do you recognise any of these symptoms in your patients?
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