Question

Infantile Pompe disease is another AR disorder that presents with:

a) Excessive sweating
b) Progressive muscle weakness and cardiomegaly
c) Cognitive impairment
d) Gastrointestinal bleeding

Answer 1

Infantile Pompe disease is an AR disorder characterized by progressive muscle weakness and cardiomegaly due to the accumulation of glycogen in lysosomes.

Step-by-step explanation:

Infantile Pompe disease, an autosomal recessive (AR) disorder, presents with progressive muscle weakness and cardiomegaly. This condition affects the muscular system and is a type of glycogen storage disease characterized by the accumulation of glycogen in the lysosomes due to a deficiency in the enzyme acid alpha-glucosidase. This leads to the progressive weakening of muscles, including the heart muscle, which is why cardiomegaly is a key symptom. Other signs and symptoms of early-onset Pompe disease may include difficulty feeding, irritability, and limpness, while late-onset disease can involve seizures, bulging fontanel, and hemiparesis.