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SUMMER 2024 InTouch | 23 Pompe Disease Inheritance Carrier parent Parent with Pompe Affected Unaffected Carrier parent Carrier parent Offspring No Pompe Carrier Carrier Carrier Carrier Pompe Pompe Pompe Each person has two copies of this gene, and both must be defective for the disease to manifest. Typically, each parent carries one defective copy, making them carriers without symptoms. POMPE DISEASE (ACID MALTASE DEFICIENCY) administered with caution by experienced anaesthesiologists. As the disease progresses, weakening muscles can lead to low lung volumes, impaired cough, blood gas abnormalities, and sleep- disordered breathing, similar to other neuromuscular conditions like Duchenne muscular dystrophy and spinal muscle atrophy. Patients are at increased risk for aspiration pneumonia due to impaired cough and secretion retention. As respiratory muscle weakness progresses, exhalation of carbon dioxide becomes difficult, and oxygen levels drop, often first during sleep. Immunizations should be up to date, and patients and household members should receive the influenza vaccine during flu season. Nutrition and Feeding Individuals with Pompe disease often face feeding and swallowing difficulties, leading to poor growth. In infantile Pompe disease, factors include facial hypotonia, an enlarged tongue, poor oral range of motion, and difficulty managing saliva. In late-onset Pompe disease, jaw muscle fatigue and difficulty swallowing and chewing can lead to inadequate intake of calories, vitamins, and minerals, resulting in muscle protein breakdown. These patients are also at increased risk for aspiration. Osteopenia and Osteoporosis Osteopenia and osteoporosis are recognized complications of Pompe disease, seen in patients as young as four months old. This may be due to chronic immobilization and weakness, although it also occurs in patients with good motor strength and nutrition, warranting further study. Diagnosis Diagnosing Pompe disease can be challenging due to its rarity and symptom variability. Diagnostic tests include chest X-rays, electrocardiograms, echocardiograms, assessments of muscle function, electromyogram, and muscle biopsy. Elevations of creatine kinase and liver enzymes are commonly seen in blood draws. A blood test measuring GAA enzyme activity confirms the diagnosis, with levels between <1% and 40% of normal indicating Pompe disease. DNA testing can also confirm the diagnosis and, if indicated, be used to test family members. Genetics Pompe disease results from defects in the gene responsible for GAA production. Each person has two copies of this gene, and both must be defective for the disease to manifest. Typically, each parent carries one defective copy, making them carriers without symptoms. Two carrier parents have a 25% chance of having an affected child with each pregnancy. Genetic counselling provides information and support to affected families, aiding in understanding inheritance patterns, and making informed family-planning decisions. Management As a multi-system disorder, Pompe disease is best managed by a multidisciplinary team led by a physician experienced in managing the condition. The teammight include a metabolic disease specialist, cardiologist, pulmonologist, neurologist, orthopaedist, respiratory therapist, physiotherapist, occupational therapist, speech therapist, genetic counsellor, and a dietitian. Continued over ...