Neutral lipid storage disease with myopathy
ORPHA:98908· ICD-10 E75.5
Definition
A form of neutral lipid storage disease characterized by adult onset of slowly progressive muscular weakness of the limbs and axial muscles, and accumulation of lipid droplets in the muscles and leukocytes.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adult