Disease Information for Glycogen storage muscle disease/Pompe: Clinical Manifestations

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Signs & Symptoms
Hyperextensable Joints Infant
Cardiac Symptoms/Signs
Cardiomegaly/Heart dilatation
Failure to thrive/infant sign
Feeding/swallowing difficulties/infant
Large tongue/macroglossia
Tongue Protrudes Infant
Palpable Liver/Hepatomegaly
Acute Motor Weakness
Central hypotonia, infants
Cramping in Extremities
Dark urine with exertion
Delay Sitting Unsupported Infant
Exertional Muscle Pain
Head Lag Infant Sign
Hypotonia
Mouth Hangs Open Infant
Muscle cramps/spasms
Muscle Pain
Muscle weakness
Muscles Soft/Doughy Infant
Myalgias
Neck weakness/head nodding
Proximal muscle weakness
Proximal upper extremity weakness
Rolling Over Delay Infant
Symmetrical muscle involvement/stiffness
Tender or painful muscles/Myalgias
Weakness, trunk muscles
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Hyporeflexia/DTRs decreased
Infant Head Support Delay
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Spasms in Both Legs
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Weak lower extremities
Hypoventilation Signs
Recurrent chest infections/bronchitis/sign
Shallow breathing
Shallow Breathing Infant
Snoring
Dark urine
Exertion/physical stress relapse/illness/complaint
Weakness
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset Infant Severe Adult Mild
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