Update on hematological abnormalities in neuromuscular genetic pathologies

American researchers examined the presence and type of blood abnormalities existing in certain hereditary myopathies.

  • These abnormalities may be of interest for the positive diagnosis, used as biomarkers, but also for the differential diagnosis.
  • Anaemias, abnormalities of all kinds of white blood cells and thrombocytopenias are most often encountered.
  • Many mitochondrial pathologies with muscular expression or rare metabolic myopathies (such as Chanarin’s disease) are associated with it.
  • Not to mention muscular dystrophies (blood and/or muscular eosinophilia encountered in certain calpainopathies) and myopathies with tubular aggregates (thrombocytopenia).


Hereditary myopathies associated with hematological abnormalities. Beecher G, Fleming MD, Liewluck T. Muscle Nerve. 2022 Jan 5.