Metabolic myopathy due to lactate transporter defect
ORPHA:171690· ICD-10 G72.8
Definition
Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
- Inheritance
- Autosomal dominant