INFORMATION ON POMPE DISEASE

Pompe disease may be defined as a rare inherited metabolic disorder which is caused by lack of development of enzyme alpha-1, 4 glucosidase, which is required to break down glycogen, which is nothing but source of energy for the body. Alpha-1, 4 glucosidase enzyme deficiency results excess amounts of glycogen to accumulate in the lysosomes, as a result of which severe muscle weakness and abnormally low muscle tone can be found in a person.

CAUSES OF POMPE DISEASE

The only reason behind the development of Pompe disease is inheritance of two defective copies of genes.

SYMPTOMS OF POMPE DISEASE

The various symptoms that are shown by a subject with Pompe disease are:-

1. Muscles weakness.
2. Cardiac failure.
3. Difficulty in walking.
4. Difficulty in holding head up.

DIAGNOSIS OF POMPE DISEASE

The various clinical procedures available for diagnosis of Pompe disease are:-

1. ECG.
2. EMG.
3. Biopsy.
4. Echocardiography.

TREATMENT OF POMPE DISEASE

So far there is no specific cure or treatment available for Pompe disease. Some of the subjects are suggested to take high-protein diet, along with daily exercises schedule. Regular medical examinations are necessary as the disease step forward.