Zaspopathy

Zaspopathy
Other namesLate-onset distal myopathy, Markesbery-Griggs type
Zaspopathy has an autosomal dominant pattern of inheritance.

Zaspopathy,[1] also called ZASP-related myofibril myopathy,[2] is a novel autosomal dominant[3] form of progressive muscular dystrophy, first described in 2005.

Cause

The disease encompasses multiple forms of both distal and proximal myopathies, and is caused by mutations in the gene referred to as ZASP.[3]

Pathophysiology

The ZASP gene is located at chromosome 10, and encodes also-called Z-disk-associated protein. Mutations in this protein causes disintegration of the Z-disk of contractile elements (myofibrils) in muscle cells.[citation needed]

Mutations of several other Z-disk related proteins, such as desmin, alfa-B-crystallin and myotilin can cause disorders similar to zaspopathy.[citation needed]

Diagnosis

Treatment

References

  1. ^ Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B (Jun 2007). "Zaspopathy in a large classic late-onset distal myopathy family" (Free full text). Brain: A Journal of Neurology. 130 (Pt 6): 1477–1484. doi:10.1093/brain/awm006. PMID 17337483.
  2. ^ Online Mendelian Inheritance in Man (OMIM): 609452
  3. ^ a b Selcen D, Engel AG (Feb 2005). "Mutations in ZASP define a novel form of muscular dystrophy in humans". Annals of Neurology. 57 (2): 269–276. doi:10.1002/ana.20376. PMID 15668942. S2CID 25733755. Archived from the original on 2012-12-17.


This article about a disease of musculoskeletal and connective tissue is a stub. You can help Wikipedia by expanding it.