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[McArdle's disease without typical symptoms].

M Watanabe1, E Matsubara, M Amari

  • 1Department of Neurology, Gunma University School of Medicine.

Rinsho Shinkeigaku = Clinical Neurology
|November 1, 1990
PubMed
Summary

McArdle's disease can present with only general fatigue and elevated serum creatinine kinase (CK) levels, without typical symptoms like muscle cramps. This case highlights the importance of considering this glycogen storage disease even with atypical presentations.

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Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • McArdle's disease, a glycogen storage disease type V, results from deficiency in muscle glycogen phosphorylase.
  • Typical symptoms include exercise-induced muscle pain, cramps, and dark urine, often leading to early diagnosis.

Observation:

  • A 25-year-old female presented with lifelong general fatigue, lacking classic McArdle's disease symptoms.
  • Neurological examination revealed no muscle atrophy or weakness, but laboratory tests showed elevated serum creatinine kinase (CK).

Findings:

  • Muscle biopsy confirmed McArdle's disease by demonstrating near-complete absence of muscle phosphorylase activity.
  • The ischemic forearm exercise test showed unchanged serum lactic acid levels, and skinned fiber tests revealed no enhanced calcium-induced calcium release (CICR).

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Implications:

  • This case broadens the clinical spectrum of McArdle's disease, emphasizing fatigue and elevated CK as potential diagnostic indicators.
  • Highlights the need for biochemical and genetic testing in patients with unexplained fatigue and elevated CK, even without pathognomonic symptoms.