====== Calpainopathy ======

//Calpainopathy // (a.k.a. LGMDR1) is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD)  It affects the muscles of the hip girdle and shoulder girdle.

Symptoms usually appear between the ages of 8 and 15.<sup> </sup>In severe cases, patients lose the ability to walk 10 - 20 years after symptoms first show.

It is linked to a mutation in the gene CAPN3, but the pathophysiology - the mechanism which leads to the disease - is unknown. To date, there is no effective treatment for this disease.

A 2019 [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770289/|research paper]]{{:oa_padlock_grn.png?16&nolink|open access}} in the //International Journal of Molecular Sciences// suggests that it may be related to faulty calcium regulation -  //"Ca<sup>2+</sup> dysregulation seems to play a central pathogenic role in this disease."//