Pompe disease is characterized by progressive muscle weakness and disability. A number of adaptive devices are available to maintain patients’ quality of life.
What is Pompe disease?
Pompe disease is a rare genetic disorder caused by mutations in the GAA gene. This gene contains the instructions necessary for the production of the acid alpha-glucosidase enzyme. This enzyme plays a role in the breakdown of the complex sugar molecule glycogen into simple sugars called glucose. Cells use glucose to produce energy. The body normally stores glycogen primarily in the muscles and the liver until it is needed. Because of one or more mutations in the GAA gene, a patient’s body cannot break down glycogen efficiently, and it builds in the muscles and liver to cause damage.
Pompe disease is usually divided into three types: classic infantile-onset, non-classical infantile-onset, and late-onset Pompe disease (LOPD). In classic infantile-onset Pompe disease, symptoms usually occur within the first three months of life. Affected babies rarely live past their first birthday without treatment. Non-classic infantile-onset Pompe disease occurs slightly later in infancy than the classic form, and doctors sometimes group these two forms together as infantile-onset Pompe disease (IOPD).
LOPD can appear anywhere after the first year of life, including adulthood. The earlier the disease appears, the less of a properly working enzyme is being produced in a patient’s body, and muscle weakness sets in more quickly.
Adaptive devices for IOPD
Infants with symptoms evident very early in life tend to have very low muscle strength, difficulty breathing, and enlarged chambers of the heart. There are aids and adaptations available for these patients to support them with breathing, feeding, and mobility.
A mechanical ventilator can help with breathing at night, during respiratory infections, or continuous breathing if that’s necessary. Ventilation can be temporary, such as the BiPAP or CPAP masks often used for sleep apnea, or more permanent such as ventilation given through a tracheostomy.
Pompe disease can also cause difficulties with chewing and swallowing, and it may be necessary to use a feeding tube to ensure that patients are receiving enough nutrition. Feeding tubes can be temporary and taken in and out; with nasogastric tubes, where the tube goes through the nose and into the stomach. Or they can be more permanent, such as gastrostomy tubes (G tubes) in which a port is surgically implanted through the abdomen directly into the stomach.
Diminished strength in the skeletal muscles can lead to difficulty with mobility, including walking, and patients may require walkers or wheelchairs to move about. Infants and children with weak neck muscles may also need adaptive car seats to keep them safe while traveling in the car.
Adaptive devices for LOPD
People with LOPD often deteriorate much more slowly than do those with infant-onset Pompe disease. However, as the disease progresses, they may need adaptive devices to help with daily life and to stay as independent as possible.
One of the first sets of muscles that LOPD affects are those of the legs. As the disease progresses, these muscles weaken and activities such as walking and climbing stairs become increasingly difficult. Weakness in the legs can also lead to problems with balance. Some adaptive devices to aid in walking and balance include canes, walkers, wheelchairs, and power scooters. You may also find it helpful to install ramps, chairlifts, or elevators to assist with movement around the house and other buildings.
Due to leg muscle weakness, patients may spend more time sitting or lying down. Various adaptive devices can help make them more comfortable and prevent pressure sores, such as cushions and adjustable mattresses. There are also devices that can make it easier to stand up, like beds and chairs that can incline or raise up.
Basic hygiene and bodily care
As the disease progresses, it may also become harder for LOPD patients to care for basic hygiene on their own. Adaptive devices or aids, like using a stool while brushing your teeth or taking a shower, can help make these tasks easier. Grab bars to safely get in and out of the shower, and handheld shower heads can also be helpful when bathing. Elevated toilets or raised seats can be of help to patients.
The paraspinal muscles (muscles along the spine) often become weaker as the disease progresses. As these muscles weaken, they cannot support the spine as well and scoliosis (sideways curvature of the spine) can occur, especially in children that are still growing. To avoid this, specially made braces can help with keeping the torso upright to prevent scoliosis.
A lack of movement and muscle wasting can also lead to contractures (tightness of muscles or connective tissue). To prevent this, many patients are given orthotic devices that help to ensure that connective tissue doesn’t shrink or shorten. These include ankle-foot orthosis (AFO) to keep the calf muscles from shortening , or finger splints to prevent finger contractures that prevent the hands from opening fully.
If a patient has trouble chewing and swallowing food, changing the way in which food is prepared can help. Chewing and swallowing issues can also put patients at risk of choking or aspirating (breathing in small pieces of food or drink into the lungs). As these difficulties advance, patients may need to use feeding tubes, such as the nasogastric tube or a gastrostomy tube, to meet their nutritional needs.
Pompe disease can affect muscles that are important for speech. Speech therapy can help strengthen the muscles of the mouth and face to aid in communication. At later disease states, patients may need to resort to other ways of communicating, such as pen and paper, picture boards, or technical communication aids like text-to-speech programs.
As with IOPD patients, those with LOPD may start to have trouble breathing as the muscles of the diaphragm and rib cage weaken. Various physical therapy exercises may be able to help strengthen muscles necessary for breathing. In more severe cases, physicians may prescribe adaptive devices such as BiPAPs, CPAPs, or ventilation via a tracheostomy.
Last updated: Oct. 13, 2020
Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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