Pompe Disease

Ever heard of pompe disease? Well I am sure most wouldn’t. This because it is a very rare disease. After reading this article, you would get to know all you really need to know about this disease.

Pompe disease is an inherited disorder caused by the buildup of complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs of the body, distort their ability to work properly.

Pompe disease is a rare multi system genetic disorder that is characterized by absence of the lysosomal enzyme alpha-glucosidase. This enzyme breaks down complex carbohydrate glycogen and converts it to simple sugar glucose.

This disease occurs in mostly infants. The infantinal form is characterized by severe muscle weakness, and hypotonia. It normally manifests itself within the first few months of the baby’s life. It also comes with some more life threatening complications like enlargement of the heart and liver.

If not treated, it would degenerate into the stage of threatening the individuals life and this occurs around 12 to 18 months after birth. This killer isn’t restricted to only infants, it is also seen in children and adults.

1. Signs and symptoms

This disease is classified in two categories, infantile form and lateonset form.

• Infantile form, individuals in this class are seriously affected. In an infant, the disease may not appear until after 2 or 3 months after the birth of the infant. Like stated earlier, it comes with muscle weakness, hypotonia and a heart disease which results in the thickening in the walls of the heart, which causes obstruction in the flow of blood to and from the heart.

Infants most times experience shortness of breath, excessive sweating, fatigue, lack of appetite which ultimately leads to poor growth. Infants born with this disease, don’t live so long, as affected infants would start experiencing chest pain, irregular beats, dizziness and fainting. In the long run, the child may suffer from cardiac arrest and ultimately in most cases die.

• Lateonset form, in this form the disease may not be noticed until later in life. At this stage, its complications are not as severe as that of the infantile stage and the chances of it affecting the heart are low.

But like the infantile stage, individuals would experience progressive muscle weakness especially in the trunk, breathing problems which would eventually lead to respiratory failure.

Individuals with the late onset may also experience dropping of the eye lid, enlargement of the liver, scoliosis, difficulty chewing and swallowing. Approximately, about one-third of the late onset cases present respiratory failure and difficulty in sleeping.

2. Causes

This disease is hereditary and so is gotten from the parent. For an individual to get it, he or she has to inherit two flawed genes, one from each parent.
Other symptoms include are.

3. Early onset

• Trouble eating
• Poor head and neck control
• Rolling over and sitting up later than expected
• Breathing problems
• Enlarged tongue

4. Late onset

• Feeling weak in the leg, trunk and arms
• Trouble breathing while sleeping
• Enlarged liver
• Stiff joints
• Difficulty in chewing and swallowing.

5. Here are 5 things you must know about this killer

 It is caused by a recessive gene
 It affects the muscle
 It occurs mostly in infants
 The severity of the disease depends on the mutation
 There is no cure yet discovered for this killer

Image Courtesy by: smugmug.com, rdss.org.sg, wsj.net,

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