Discuss the biology of muscular dystrophy

The first 200 words of this essay...

Discuss the biology of muscular dystrophy

One of the most baffling diseases is muscular dystrophy. Muscular dystrophy (MD) is a group of genetic disease that causes weakness and progressive degeneration of skeletal muscles. There are 9 major forms of MD - Duchenne, Becker, myotonic, limb-girdle, facioscapulohumeral, oculopharyngeal, Emery-Dreifuss, distal and congenital(Parker 2002). This essay will focus on the causes and pathological effects of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) which are the most prevalent form of muscular dystrophy.

DMD and BMD are the most common childhood forms of muscular dystrophy. DMD was first described by the French physician Duchenne de Boulogne in 1868 (Hendriksen & Vles 2006). Beggs & Kunkel (1990) noted that DMD affects 1 in 3500 males while one third of the cases are sporadic with no previous family history of DMD. DMD and BMD are X-linked recessive muscle-wasting disorders which normally occur in man. They are caused by mutation in a gene located on the X-chromosome which codes for a protein called dystrophin (Cyrulnik & Hinton 2008). Campbell (1995) stated that the gene is extremely large and complex. Its locus extends over 2400 kb and approximately 14 kb is transcribed into an