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The clinician is advised to think of late-onset Pompe disease as a limb girdle syndrome with early respiratory involvement (especially orthopnea and nocturnal hypoventilation). Failure to consider this diagnosis is all too frequent; most patients are symptomatic for more than 5 years before the diagnosis of late-onset Pompe disease is made. Symptomatic respiratory weakness usually occurs years after limb girdle weakness is established, but patients may have respiratory symptoms as their initial complaint. Muscle biopsy is usually helpful in confirming the diagnosis of late-onset Pompe disease. Indeed, the muscle biopsy may reveal the classic changes of Pompe disease in patients in whom the disease was never clinically suspected. The classic muscle biopsy findings are those of non-rimmed vacuoles in muscle fibers caused by intra-lysosomal glycogen storage. There is increased deposition of PAS positive material (Figure 5). The vacuoles also stain with acid phosphatase, confirming that the vacuoles are lysosomal structures. Free glycogen, as well as membrane-bound glycogen, is defined by electron microscopy. In advanced disease, the end-stage findings of muscle fiber atrophy and excessive connective tissue are present. It is the common wisdom that fibrosis indicates a stage at which muscle is incapable of subsequent regeneration.
Figure 5: Left, hematoxylin and eosin stain showing vacuolated muscle fibers.
Figure 5. Left, hematoxylin and eosin stain showing vacuolated muscle fibers. Right, periodic acid-Schiff (PAS) increased glycogen (From Pestronk: Neuromuscular Home Page)

A minority of patients with late-onset Pompe disease will not exhibit the classic muscle biopsy findings. Vacuolated fibers are not found on every biopsy. Excess glycogen accumulation may not be apparent if specific glycogen staining with PAS is not used. Failure to perform muscle ultrastructure studies with electron microscopy robs the opportunity to define the characteristic membrane-bound glycogen. Even if all studies are performed, the muscle biopsy is occasionally non diagnostic in late-onset Pompe disease.

The diagnostic challenge of late-onset Pompe disease has doubtlessly resulted in failure to diagnose a substantial number of these patients. The slowly progressive nature of the disease leads to compensatory behaviors that delay medical consultation. In every large neuromuscular clinic there are patients with undefined limb girdle myopathies. The availability of dry blood spot technology affords a second chance to diagnose these patients.[5,6] Testing patients with undefined limb girdle myopathy syndromes should also include pulmonary function tests performed in both the seated and supine position. As noted, a greater than 10% drop in VC when going from seated to supine indicates diaphragm muscle weakness. Although not pathognemonic of Pompe disease, the finding of diaphragm weakness should make the clinician reconsider this diagnosis. Late-onset Pompe disease is an insidiously progressive disorder.[11,12] The disease has a dramatic impact on motor ability and quality of life.[10] Throughout the course of the disease, pelvic girdle weakness exceeds shoulder girdle weakness.

The management of both infants and late-onset patients requires a team approach to supportive care. The services of physical and occupational therapists, nutritionists, respiratory therapists, and genetic counselors play an important role in the management of nearly every patient. The patient with classic infantile-onset disease requires close management by pediatric cardiology specialists. In patients with late-onset Pompe disease, disease duration is the greatest predictor of severity. Even patients in the early stages of disease exhibit diminished walking ability and compromised muscle power and pulmonary function compared with healthy age-matched peers.

The role of exercise and nutrition in Pompe disease has been carefully studied. An hour a day of treadmill walking coupled with a high-protein, low-carbohydrate diet retards disease progression when compliant patients were compared with patients who failed to follow this regimen.[13]

The advent of recombinant GAA therapy has had a significant impact on the longevity and quality of life in patients with classic infantile-onset Pompe disease. Pivotal studies comparing these infants with a natural history cohort of untreated patients demonstrates a dramatic impact on longevity, motor development, and somatic body growth.[7,14] Early therapies using GAA produced from the milk of transgenic rabbits has been replaced by rhGAA derived from Chinese hamster ovary cells.[8,14] Current treatment uses intravenous infusion of recombinant GAA at a dose of 20 mg/kg on alternate weeks. A growing body of evidence suggests efficacy in those with late-onset disease as well. Small pilot trials suggest improved power and endurance of both limb and respiratory muscles. A double-blind, controlled study using recombinant GAA in patients with late-onset Pompe disease is nearing completion (personal communication).

Future therapeutic directions will include second-generation recombinant GAA. Gene therapy with adeno-associated virus and other vectors carrying the cDNA of the GAA gene[15] and chaperone protein therapy to direct native and recombinant GAA to the lysosome[16] will be studied in the future. These treatments offer hope for patients and families living with Pompe disease.

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