Pompe disease clinical and laboratory diagnosis optimization among other hereditary neuromuscular diseases (literature review, own observations)

N.O. Pichkur


Background. Analysis of Pompe disease (PD) clinical features, determination of myopathic syndromes main characteristics according to the results of clinical, laboratory and instrumental studies allowing to select such patients into screening group for PD enzyme diagnosis. Materials and methods. In 2002–2016, in the Center of orphan diseases a comprehensive clinical and laboratory study was conducted in 614 patients with clinical manifestations of hereditary neuromuscular disease. There were 314 male and 300 female patients aged 2 months to 34 years. Results. In 78 patients, myopathy with dominant inheritance was detected, further laboratory tests on PD haven’t been conducted. In 98 patients, spinal muscular atrophy was diagnosed, in 70 — Duchenne primary muscular dystrophy, in 123 — different forms of hereditary neurosensory neuropathy. Screening group for PD detection using enzyme diagnosis method consisted of 421 patients, who had unclassified myopathic syndromes characterized by a heterogeneous clinical picture, in particular, general muscle weakness without hypertrophy. Electroneuromyography was performed in 187 patients: all of them showed patterns of myopathic process without signs of denervation and spontaneous activity (fibrillation or myotonic phenomena). In 25 patients aged 2 to 18 months, increased levels of creatine phosphokinase, lactate dehydrogenase, and liver transaminases were detected. Moreover, in 10 patients, hypertrophic cardiomyopathy, respiratory distress were revealed. According to enzyme diagnosis results, PD in dried blood spot was diagnosed in 5 patients. Conclusions. Main characteristics for the selective search group on PD were determined, in which enzyme diagnosis in dried blood spot was effective. Such characteristics are: autosomal recessive type of disease inheritance; wide age intervals; increased levels of creatine phosphokinase, hepatic transaminases; myopathic lesion localization (predominantly in muscles of proximal parts of the extremities and body), characteristic electroneuromyography changes; hypertrophic cardiomyopathy.


Pompe disease; enzyme diagnosis; dried blood spot method


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