Pompe Disease Physiotherapy | Arunalaya Healthcare

Best Pompe Disease Treatment in Delhi

What is Pompe Disease?

Pompe disease, also known as glycogen storage disease type II (GSDII) or acid maltase deficiency (AMD), is a rare and progressive genetic disorder that affects the body’s ability to break down a complex sugar called glycogen. This leads to the accumulation of glycogen in the lysosomes of cells, particularly in muscle tissue, including skeletal muscles, the heart, and respiratory muscles.

Causes of Pompe Disease

Pompe disease is caused by mutations in the GAA gene. This gene provides instructions for producing an enzyme called acid alpha-glucosidase (GAA), also known as acid maltase. The GAA enzyme is crucial for breaking down glycogen in lysosomes, which are essentially the “recycling centers” within cells.
When the GAA gene has mutations, the body either produces insufficient amounts of the GAA enzyme, or the enzyme produced does not function correctly. This deficiency prevents glycogen from being properly broken down, leading to its accumulation to toxic levels within the lysosomes. This buildup primarily affects muscle cells, causing progressive damage and dysfunction.
Pompe disease is an autosomal recessive inherited condition. This means that an individual must inherit two copies of the mutated GAA gene (one from each parent) to develop the disease. If a person inherits only one mutated copy, they are a carrier and typically do not show symptoms, but can pass the gene to their children.
There are different forms of Pompe disease, largely categorized by the age of onset and severity:-
- Infantile-onset Pompe Disease (IOPD): This is the most severe form, with symptoms appearing shortly after birth, usually within the first few months. It involves severe muscle weakness, significant heart enlargement (cardiomyopathy), and respiratory difficulties. Without treatment, infants often do not survive beyond their first year.
- Late-onset Pompe Disease (LOPD): This form can appear at any age from childhood to adulthood. It progresses more slowly and typically has less severe cardiac involvement than IOPD, although it can still affect the heart. The primary symptoms are progressive muscle weakness and respiratory insufficiency.

Symptoms of Pompe Disease

The symptoms of Pompe disease vary widely depending on the age of onset and the severity of the enzyme deficiency.

Symptoms of Infantile-Onset Pompe Disease (IOPD):-
- Profound muscle weakness (hypotonia): Often referred to as “floppy baby syndrome.”
- Poor feeding and weight gain (failure to thrive).
- Enlarged heart (cardiomyopathy): This can lead to heart failure and is a major cause of mortality.
- Breathing difficulties: Due to weakness of the diaphragm and other respiratory muscles, often leading to recurrent respiratory infections and respiratory failure.
- Enlarged tongue (macroglossia).
- Enlarged liver (hepatomegaly) (less common than cardiac or muscle involvement).
- Delayed motor milestones: Inability to lift head, roll over, or sit independently.
Symptoms of Late-Onset Pompe Disease (LOPD):
- Progressive muscle weakness: This is often the most prominent symptom. It typically affects proximal muscles (shoulders, hips, thighs) more than distal muscles (hands, feet) and can be asymmetrical.
- Difficulty climbing stairs, rising from a chair, running.
- Waddling gait.
- Frequent falls.
- Difficulty raising arms.
Scapular winging (shoulder blade sticking out).
Weakness of neck flexors (difficulty lifting head).
Involvement of trunk muscles can lead to lordosis (excessive inward curve of the spine) or scoliosis (sideways curve of the spine).
Respiratory problems: Weakness of the diaphragm and intercostal muscles can lead to:
- Shortness of breath, especially with exertion.
- Trouble sleeping flat (orthopnea).
- Morning headaches.
- Daytime fatigue due to restless sleep and insufficient breathing at night.
- Recurrent chest infections.
- Ultimately, respiratory failure.
Fatigue and exercise intolerance: Due to muscle weakness and respiratory compromise
- Muscle pain and cramping.
- Cardiac involvement: Can occur in LOPD, though typically less severe than in IOPD, and may include arrhythmias or heart thickening.

Advanced Physiotherapy for Pompe Disease

Respiratory Physiotherapy:-
- Inspiratory Muscle Training (IMT): Using specific devices (e.g., threshold inspiratory muscle trainers) to strengthen the diaphragm and intercostal muscles, improving lung capacity and reducing respiratory fatigue. This is crucial given the high risk of respiratory failure.
- Breathing Exercises: Diaphragmatic breathing, segmental breathing, and pursed-lip breathing to optimize lung mechanics and improve ventilation.
- Assisted Cough Techniques: Teaching and performing techniques like manual cough assist or using mechanical insufflation-exsufflation devices to clear airways, especially for patients with weak cough reflexes.
- Postural Drainage and Percussion: For managing secretions and preventing chest infections, particularly in patients with recurrent respiratory issues.
- Non-invasive Ventilation (NIV) Management: Assisting patients in adapting to and effectively using NIV (e.g., BiPAP) for nocturnal or daytime respiratory support.
Strength and Endurance Training:-
- Strengthening: Focusing on key muscle groups affected by Pompe disease, particularly proximal muscles (hips, shoulders, trunk, neck flexors). This includes:
- Low-resistance, high-repetition exercises: To build endurance without causing excessive muscle damage.
- Eccentric training: Carefully implemented to strengthen muscles while lengthening, if appropriate and well-tolerated .
- Functional strengthening: Exercises that mimic daily activities (e.g., sit-to-stand, stepping, reaching).
- Aerobic Conditioning: Low-impact activities like stationary cycling, walking (with or without support), or swimming/hydrotherapy. This helps improve cardiovascular fitness, muscle endurance, and overall well-being without over-stressing weakened muscles.
Flexibility and Range of Motion (ROM):
- Stretching : Regular stretching to prevent or reduce muscle contractures, which are common due to muscle weakness and disuse. Focus areas often include hip flexors, hamstrings, ankle plantarflexors, and iliotibial bands.
Mobility and Balance Training:-
- Gait Training: Retraining walking patterns, improving balance, and optimizing efficiency of movement, often with the use of assistive devices.
- Balance Exercises: Static and dynamic balance activities to improve stability and reduce fall risk.
- Transfer Training: Teaching safe and efficient techniques for moving between different surfaces (e.g., bed to chair, floor to stand).

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