The diagnosis is made based on the combination of typical symptoms and the appearance on biopsy (tissue sample) from muscle. The name derives from the typical appearance of the biopsy on light microscopy, where the muscle cells have<unk> s that are devoid of mitochondria and specific enzymes. Respiratory insufficiency develops in a small proportion of cases. Creatine kinase tend to be normal and electromyography (EMG) shows short duration, short amplitude motor unit action potentials.
Central core disease
Synucleinopathy
Tauopathy
Vascular myelopathy
Surfer's myelopathy
Basal ganglia disease
Multiple system atrophy
Amyotrophic lateral sclerosis