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Autosomal dominant myoglobinuria

ORPHA:99846· ICD-10 R82.1

Definition

A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
No data available