How common are genetic muscle diseases
What is the relative prevalence of genetic muscle diseases?
The combined prevalence of genetic muscle disease has been estimated with a minimum prevalence of ∼50/100,000. Metabolic myopathies comprise ∼5/100,000, whereas the MMs are thought to include another ∼5/100,000. The remainder of genetic muscle diseases consists of the following disorders: dystrophinopathies (Duchenne and Becker muscular dystrophies) at ∼10/100,000; myotonic dystrophies (type 1 and type 2) at ∼10/100,000; facioscapulohumeral muscular dystrophy at ∼5/100,000; the LGMDs at ∼5/100,000; and the remainder of genetic muscle diseases make up the final ∼5/100,000. Thus, one should always keep in mind the full spectrum of disorders presenting with symptoms related to muscles.
