Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time.

[1] The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin.

[1][2] Of those, Duchenne muscular dystrophy (DMD) accounts for approximately 50% of cases and affects males beginning around the age of four.

[1] Physical therapy, braces, and corrective surgery may help with some symptoms[1] while assisted ventilation may be required in those with weakness of breathing muscles.

[1] Many affected people will eventually become unable to walk[2] and Duchenne muscular dystrophy in particular is associated with shortened life expectancy.

[9][10] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing.

A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy.

[11] An MRI can be used to assess the white matter of the nervous system and measure the merosin levels in young boys.

[14] Several forms of the congenital muscular dystrophies are caused by defects in proteins thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure.

[29] The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine.

[2] In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals.

Disability rights advocates, however, have criticized the telethon for portraying those living with the disease as deserving pity rather than respect.