Myopathy due to Myoadenylate Deaminase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase.

**Synonyms:** - MMDD