Kearns-Sayre syndrome , KSS (Abkürzung)

Kearns-Sayre syndrome occurs spontaneously in the majority of cases.

The few patients who survive into adulthood often develop symptoms of Kearns-Sayre syndrome.

The presentation of some cases is similar to that of Kearns-Sayre syndrome.

The muscle, as in progressive external ophthalmoplegia or Kearns-Sayre syndrome.

The mutation is similar to those encountered in human pathologies such as the Kearns-Sayre syndrome.

Kearns-Sayre syndrome, a disease of the mitochondria, involves abnormal mitochondria in eccrine sweat glands.

Clinical manifestations of cardiac disease occur in 57% of patients with Kearns-Sayre syndrome [ 17 ] .

Kearns-Sayre syndrome, is characterized by onset before 15 years of age of CPEO, heart block and pigmentary retinopathy.

It is important to have a dilated eye exam to determine if there is pigmentary retinopathy that may signify Kearns-Sayre syndrome which is associated with cardiac abnormalities.

In other people suffering from mitochondrial disease, CPEO occurs as part of a syndrome involving more than one part of the body, such as Kearns-Sayre syndrome.

In human pathology, this kind of mutation has been correlated with severe diseases such as the Kearns-Sayre syndrome, but the mutant strain, does not seem to be affected by the mutation (1).

Diseases caused by mutation in the mtDNA include Kearns-Sayre syndrome, MELAS syndrome and Leber's hereditary optic neuropathy.

RP combined with opthalmoplegia, dysphagia, ataxia, and cardiac conduction defects is seen in the mitochondrial DNA disorder Kearns-Sayre syndrome (also known as Ragged Red Fiber Myopathy)

Kearns-Sayre syndrome (abbreviated KSS) also known as oculocraniosomatic disease or Oculocraniosomatic neuromuscular disease with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age.

Mutations of mitochondrial DNA can lead to a number of illnesses including exercise intolerance and Kearns-Sayre syndrome (KSS), which causes a person to lose full function of heart, eye, and muscle movements.

Paralytic strabismus has many causes including Oculomotor nerve palsy, Fourth nerve palsy, Congenital fourth nerve palsy, Sixth nerve palsy, Progressive external ophthalmoplegia, and Kearns-Sayre syndrome.

The complete AV block in Kearns-Sayre syndrome may also be associated less commonly with ventricular tachycardia, torsade de pointes and ventricular fibrillation as the ultimate and often fatal stage of the condition [ 18 ] .

Her major achievements were the classification of the peripheral neuropathies and hereditary ataxias, the first identification of a mitochondrial DNA mutation in human disease (in Kearns-Sayre syndrome) and the identification of trinucleotide repeats in degenerative neurologic diseases (e.g. Huntington's disease).