Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Adult-onset acid maltase deficiency is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency. We present a case of a 53-year-old woman who presented with several years of severe, diffuse myalgia and no evidence of weakness on examination. Further testing revealed a mildly elevated serum creatine kinase, a subtle vacuolar myopathy, decreased skeletal muscle α-glucosidase activity, and causative mutations in the responsible . GAA gene. While likely very uncommon, adult-onset acid maltase deficiency may present with diffuse strength-sparing myalgia.

Original languageEnglish (US)
Pages (from-to)763-766
Number of pages4
JournalNeuromuscular Disorders
Volume22
Issue number8
DOIs
StatePublished - Aug 2012

Fingerprint

Glycogen Storage Disease Type II
Myalgia
Muscle Strength
Glucosidases
Phenotype
Muscle Weakness
Creatine Kinase
Respiratory Insufficiency
Skeletal Muscle
Mutation
Serum
Genes
Vacuolar myopathy

Keywords

  • Acid maltase deficiency
  • Glycogen storage disease II
  • Myalgia
  • Myofascial pain
  • Pompe disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

Cite this

Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency. / Jones, Lyell; Liewluck, Teerin; Gavrilova, Ralitza M.

In: Neuromuscular Disorders, Vol. 22, No. 8, 08.2012, p. 763-766.

Research output: Contribution to journalArticle

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