Adaptive equipment for Pompe disease patients
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There are a number of adaptive devices available to help people living with Pompe disease. These devices can help maintain quality of life and help with digestion, breathing, and mobility.
Pompe disease is a rare genetic disorder caused by mutations in the GAA gene that contains the instructions to make the acid alpha-glucosidase (GAA) enzyme. These genetic mutations make a patient’s body unable to effectively break down glycogen — a complex sugar molecule broken down into simple sugars, called glucose, that can be used by cells.
The disease is characterized by symptoms including progressive muscle weakness, breathing problems, and disability.
Types of Pompe disease
Pompe is usually divided into three types, based on the age at onset — when Pompe disease symptoms first become apparent — and the severity of the disease. These Pompe disease types are:
- classic infantile-onset form
- non-classic infantile-onset form
- late-onset form
Classic infantile-onset Pompe disease
In this form, Pompe disease symptoms usually occur within the first few months of life, and include poor muscle tone, delayed motor development, and difficulty feeding. Heart disease, or cardiomyopathy, can affect these babies in the first weeks after birth.
Non-classic infantile-onset Pompe disease
In the non-classic infantile onset form, Pompe disease symptoms appear later than in the classic form, but usually within the first year of life. Babies with this disease form exhibit muscle weakness and delayed motor development.
Late-onset Pompe disease
Late-onset Pompe disease can appear at any time after the first year of life, including in adulthood. Usually, a younger age at disease onset is linked to a more severe disease course. People with late-onset Pompe disease experience progressive weakness in muscles, with leg muscles being usually more affected than arm muscles. Breathing problems also may develop.
Adaptive devices for IOPD
Children with infantile-onset Pompe disease, known as IOPD, usually show decreased muscle tone (hypotonia), muscle weakness, delayed development of motor skills, difficulty breathing, and feeding problems.
Enzyme replacement therapy (ERT) is the only treatment approved for Pompe disease. ERT has been shown to reduce and slow the progression of muscle wasting that characterizes the disease, helping patients reach more developmental milestones.
Apart from ERT, some aids and adaptations are available to Pompe patients to help ease some of the difficulties associated with the disease.
Breathing
IOPD patients should undergo regular respiratory monitoring, as they are more prone to develop hypoventilation — breathing that is too shallow or too slow — and sleep-disordered breathing. Respiratory support to assist the weakened breathing muscles, through invasive or noninvasive ventilation, might be required.
Ventilation can be temporary or more permanent, including ventilation through a tracheostomy tube (through an opening on the neck connected directly to the main airway) with mechanical ventilation.
Respiratory therapies aim to improve patients’ breathing capacity via exercises to strengthen the breathing muscles and help clear airway secretions. These can be beneficial for IOPD patients.
Feeding
Pompe disease can cause difficulties with chewing and swallowing, due in part to weakness of the oropharyngeal muscles, which help food to move through the digestive track.
Some patients may require the use of a feeding tube to ensure they receive proper nutrition. Feeding tubes can be temporary, such as a nasogastric tube — where the tube goes through the nose and into the stomach. They also can be more permanent, such as gastrostomy tubes (G tubes) in which a port is surgically implanted through the abdomen directly into the stomach.
IOPD patients can have a higher risk of aspiration — that is, the entry of food or drink into the lungs — that may result in serious chest infections. Feeding modifications, including the use of a G tube, might be considered to reduce the risk of aspiration.
Mobility
Diminished strength in the skeletal muscles can lead to difficulty with mobility, including walking.
Orthopedic devices, including braces on the legs/ankles and wrist/hand/finger splints, may help support the functional capacity of IOPD patients and prevent further worsening of problems.
Some patients may require walkers or wheelchairs to be able to move around.
Seating devices, including strollers, wheelchairs, and specific car seats, should be adapted to the individual patient. That will help to prevent or minimize contractures, or permanent tightening of muscles or other tissues, and deformity, particularly spinal deformity. Specialized seat belts, head restraints, harnesses, and vests can be used for safe support in vehicles.
Adaptive devices for LOPD
Those with LOPD usually deteriorate more slowly than patients with infant-onset Pompe disease. However, as the disease progresses, these individuals may need adaptive devices to help with daily life and to stay as independent as possible.
Mobility
One of the first sets of muscles that late-onset Pompe 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 leg muscles also can lead to problems with balance.
Some adaptive devices to assist in walking and balance include canes, walkers, wheelchairs, and power scooters. Ramps, stair lifts, or elevators also can assist with movement around the house and other buildings.
People with LOPD may spend more time sitting or lying down. Various adaptive devices can help make these individuals more comfortable and prevent pain and pressure sores. Available options include proper cushions, adjustable mattresses, and beds and chairs that can incline or raise up.
Basic hygiene and bodily care
As the disease progresses, it may become harder for people with LOPD to care for basic hygiene on their own. Adaptive devices or aids, like using a stool while brushing one’s teeth or taking a shower, can help make these tasks easier. Grab bars to safely get in and out of the shower, handheld shower heads, and elevated toilets or raised seats also may be of help to patients.
Orthotics
The paraspinal muscles, or muscles along the spine, often become weaker as the disease progresses. As these muscles weaken, they can no longer support the spine, and scoliosis — a sideways curvature of the spine — can occur, particularly in children. Specially made braces can help with keeping the torso upright to prevent scoliosis.
Lack of movement and muscle wasting also can lead to contractures. Orthotics, for example ankle-foot orthosis and finger splints, can be used to prevent contractures.
Feeding
As in IOPD, late-onset Pompe patients also can experience difficulties in chewing and swallowing. In these cases, changing the way in which food is prepared — for example, by pureeing food — may help.
Chewing and swallowing issues can put patients at risk of choking, or aspirating food/drinks into the lungs. The use of feeding tubes, such as a nasogastric tube or a gastrostomy tube, might be required to avoid these risks and meet a patient’s nutritional needs.
Communication
Pompe disease can affect muscles that are important for speech. Speech therapy can help strengthen the muscles of the mouth and face, and therefore help improve communication. At more severe disease stages, patients may need to resort to other ways of communication, including the use of pen and paper, picture boards, or technical communication aids like text-to-speech programs.
Breathing
As with IOPD patients, those with LOPD may experience trouble breathing as the diaphragm and other muscles weaken. In fact, a review study published in 2013 estimated about 75% of children and adolescents with LOPD eventually require mechanical ventilation.
Various physical therapy exercises may help strengthen the muscles necessary for breathing. In more severe cases, respiratory support might be needed, including ventilation via a tracheostomy tube.
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.
FAQs about adaptive equipment for Pompe disease patients
The life expectancy of people with Pompe disease depends on several factors, including Pompe disease type, the severity of disease symptoms, and how well these symptoms are managed. The goal of using adaptive equipment is to increase a patient’s quality of life and functional status by helping ease some of the difficulties associated with the disease. In more severe cases, adaptive equipment such as respiratory support can be vital for extending the life expectancy of patients.
Pain can interfere with a person’s daily activities and quality of life, therefore pain management is an important element in Pompe disease treatment. Several adaptive devices can help patients to be more comfortable and avoid pain, including adapted seats and wheelchairs with adequate cushioning, and adjustable mattresses.
Children with infantile-onset Pompe disease usually show decreased muscle tone, delayed motor development, difficulty breathing, and feeding problems. Some aids and adaptive equipment are available to help ease some of these issues. These include feeding tubes to help children receive proper nutrition, orthopedic devices to help support their functional capacity, adapted wheelchairs and specific car seats, and equipment for respiratory support (invasive and non-invasive ventilation).
Pompe disease affects each person differently, therefore any treatment and care plan must be tailored to meet the individual patient’s needs. Different treatments exist based on the type of Pompe disease for infantile-onset or late-onset. Concerning adaptive equipment, it also differs based on patients’ needs, but options are available for both disease forms.
Not all Pompe patients require respiratory support, but when the disease affects the diaphragm and other muscles involved in breathing, such support likely will be required — be it invasive or non-invasive ventilation. In some cases, respiratory support is only required during sleep. It is estimated that about 75% of children and adolescents with late-onset Pompe disease eventually require mechanical ventilation.
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