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Pompe (Pom-PAY or pomp-uh) Disease
Pompe disease is a rare inherited neuromuscular disorder that causes progressive muscle weakness.
Pompe is a recessive trait carried through a recessive allele (p) on chromosome 17. The disease is
named after Johannes C. Pompe, a Dutch doctor who first described the disorder in 1932 in an infant
patient. The actual gene that causes Pompe was discovered in 1979. Pompe can affect people of all
ages, with symptoms first occurring at any time from infancy to adulthood. Without treatment, Pompe
is typically lethal in infants and young children.
If a person is homozygous dominant (PP), they do not have Pompe. If a person is heterozygous
(Pp), then they are carriers – they will not ever get Pompe, but they could pass the bad recessive
gene to their children. If you are homozygous recessive (pp), then you will show symptoms of Pompe
at some point in your life. Children who are pp are born with this genetic disease, but do not always
show symptoms of it until later in life.
Pompe disease is caused by a defective gene that causes people to not have enough of a chemical
called GAA. When you don’t have enough GAA in your body, then your body stores too much
glycogen, which is a form of sugar (glucose) that is stored in the lysosomes in your muscle cells.
One important thing to realize is the Pompe impacts each person who has it differently. Often, the
symptoms vary depending on the age that Pompe strikes. In every case, the muscles of the patient
get weaker over time. The muscle weakness can affect many different parts of the body and cause a
variety of health problems. In some cases, the initial impact may be very serious and progress
(worsen) rapidly, while in others it will be less extreme and progress more gradually.
Infants typically have extreme muscle weakness and a “floppy” appearance. X-rays usually reveal a
greatly enlarged heart. Other symptoms include breathing difficulties, trouble feeding, and a failure to
meet developmental milestones such as rolling over and sitting up.
Children and adults tend to have greater variety in their symptoms, often including weakness of the
leg and hip muscles, leading to difficulties with mobility, as well as breathing difficulties. Older patients
rarely have the heart problems typical in infants.
If you have Pompe, there are two ways to manage your disease; either way, many frequent doctor’s
visits are required:
1.
Receive medicine that replaces the chemical GAA that you are missing. The medicine that
replaces the chemical is called an Enzyme Replacement Therapy, and the movie we will watch
is the story of how that medicine came about.
2.
Manage your symptoms. Ways this can be done:

Physical therapy can help improve muscle strength and flexibility and improve mobility

Occupational therapy teaches people new ways to perform daily tasks and adapt to
changes in their body and environment

Use of supportive equipment such as wheelchairs lets people stay mobile and maintain
their independence as muscle weakness progresses

In some cases, surgery may be necessary to correct bone problems such as scoliosis (a
sideways curvature of the spine), which can develop as a result of weak muscles

Mechanical ventilation, using machines or devices to help get enough air into the lungs

Respiratory therapy, including exercises and techniques to help patients strengthen
muscles, better clear their lungs, and minimize infection risks

Close monitoring of the heart’s status and providing emergency care and resuscitation as
needed – most infants with Pompe die of heart failure before age 1

A registered dietician can plan well-balanced meals to provide enough calories and
nutrients

Changing the size, texture, or thickness of foods can make them easier to eat, and
minimize the risk of inhaling them

Special exercises may help strengthen eating-related muscles

In serious cases, such as infants who are too weak to eat at all on their own, older patients
who are severely underweight, or those whose breathing problems interfere with eating,
tube feeding may be necessary. A tube is inserted—either through the nose and down the
throat, or surgically into the stomach (called a gastrostomy, or g-tube)—in order to provide
liquid food directly to the stomach or intestines
Source: www.pompe.com