Home Metabolic myopathy: Mitochondrial myopathy

Metabolic myopathy: Mitochondrial myopathy

Types

Defining Characteristics

Maternal transmission, extra-muscular manifestations (in tissues/organs w/ high met rates)
Furrowed brow, high-arched eyebrows
Progressive External Opthalmoplegia (PEO) – ptosis,
opthalmoparesis
MELAS – stroke <40, encephalopathy, RRF, lactic acidosis MERRF- myoclonus, epilepsy, ataxia, ragged red fibers

Disease Development

Abnormal amounts of mitochondria

Lab/Imaging

Histology? Ragged red fibers representing abnl excess mitochondria