What is the classification of Acid Maltase Deficiency?

April 21 22:48 2019 Print This Article

This disorder is divided into three forms depending upon the age of onset and the progression of symptoms.

This disorder is mainly divided into the infantile and late onset form.

In the infantile form there is a large enlargement of the heart and in the late form there is no such large enlargement. The infantile form is also known as the early onset. It occurs shortly after the birth. It includes the absence of muscle tone, weakness, enlarged liver and heart. The enlarged liver is known as the hepatomegaly. It does not affect the mental ability of the patient. In the first few weeks the development is normal but it decreases as the disease progresses. There is a difficulty in the swallowing and the tongue protrudes and becomes large in size.

The majority of the children die before 2 years of age from respiratory or cardiac complications. There is a juvenile onset which appears in early to late childhood. It includes increase in the weakness of respiratory muscles which are present in the trunk. The diaphragm and lower limbs are also involved. There is intolerance to the exercise. They have a normal intelligence.

The adult symptoms include the generalized muscle weakness along with the wasting of respiratory muscles. It involves the trunk, lower limb and diaphragm. There is a respiratory distress along with the head ache at night or upon walking. The tendon reflexes are diminished. There is a weakness in the proximal muscles. There is a difficulty in the climbing stairs. They have a normal intelligence. There are few adult patients which do not have any major symptoms. The restrictive cardio myopathy is caused due to the infiltrative nature of Pomp’s disease.

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