Random article ( of 1118 ) Latest updates

User Tools

Site Tools


content / medicine / diseases / a-f / calpainopathy

Wikenigma - an Encyclopedia of Unknowns Wikenigma - an Encyclopedia of the Unknown

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. 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 research paperopen access in the International Journal of Molecular Sciences suggests that it may be related to faulty calcium regulation - "Ca2+ dysregulation seems to play a central pathogenic role in this disease."

THIS WEBSITE DOES NOT USE TRACKING, ADVERTISING, OR ANALYTICAL COOKIES OF ANY KIND.
All essential cookies (for login status etc) are automatically deleted at the end of the session.
(full details here)

Show another (random) article

Suggestions for corrections and ideas for articles are welcomed : Get in touch!


Further resources :