Légzészavarral járó myopathia: Diagnosztikai nehézségek egy felnottkori Pompe-eset kapcsán

Translated title of the contribution: Myopathy associated respiratory insufficiency: Diagnostic difficulties in an adult form of acid maltase deficiency

Hajnalka Merkli, Endre Pál, Ferenc Nagy, Rita Horváth, Visy Katalin Várdi, Sámuel Komoly, Zsolt Illés

Research output: Contribution to journalArticle

2 Citations (Scopus)


Introduction: Adult-onset acid maltase deficiency myopathy is a rare lysosomal storage disease with an autosomal recessive pattern of inheritance. The disease can be manifested with respiratory insufficiency and fatigue. Methods: A case of a 45-year-old male patient is presented, and difficulty in diagnosis is discussed. Results: The patient had been repeatedly examined because of hypersomnia, dyspnoe and fatigue for a full year before a neurological consultation was requested. Arteficial ventilation resulted in a dramatic improvement of his symptoms. Neurological examination revealed myopathy. Electrophysiological myotonia and glycogen storage in muscle biopsy specimen suggested acid maltase deficiency. The diagnosis was established by genetic testing detecting the previously described homozygous c.-45T>G mutation in the alpha-glucosidase gene. Discussion: Rare hereditary neurological diseases can be also suspected as cause of chronic unexplained respiratory insufficiency resulted in hypersomnia and fatigue due to hypercapnia and myopathy. A proper diagnosis can contribute to early diagnosis and introduction of enzyme replacement therapy may reduce or stop clinical progression. Genetic diagnosis can also provide a possibility for prenatal testing.

Original languageHungarian
Pages (from-to)1421-1424
Number of pages4
JournalOrvosi hetilap
Issue number30
Publication statusPublished - Jul 30 2006


ASJC Scopus subject areas

  • Medicine(all)

Cite this

Merkli, H., Pál, E., Nagy, F., Horváth, R., Várdi, V. K., Komoly, S., & Illés, Z. (2006). Légzészavarral járó myopathia: Diagnosztikai nehézségek egy felnottkori Pompe-eset kapcsán. Orvosi hetilap, 147(30), 1421-1424.