Kearns-Sayre syndrome
Kearns-Sayre syndrome (pronunciation: KEERNS-SAYR) is a rare, neuromuscular disorder. It is named after two American ophthalmologists, Thomas Kearns and George Pomeroy Sayre, who first described the condition in 1958.
Etymology
The syndrome is named after Thomas Kearns and George Pomeroy Sayre, who first described the condition in 1958. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Definition
Kearns-Sayre syndrome is a mitochondrial disease, which means it is caused by mutations in the mitochondrial DNA. It is characterized by progressive weakness and wasting of the skeletal muscles, particularly those muscles that control eye movement (ophthalmoplegia) and eyelid drooping (ptosis). Other symptoms may include heart block, retinitis pigmentosa, and cerebellar ataxia.
Symptoms
The symptoms of Kearns-Sayre syndrome typically appear before the age of 20 and may include:
- Progressive external ophthalmoplegia (PEO)
- Ptosis (drooping of the upper eyelid)
- Retinitis pigmentosa (a group of genetic disorders that affect the retina’s ability to respond to light)
- Heart block (a disease of the electric system of the heart)
- Cerebellar ataxia (lack of muscle coordination)
Diagnosis
Diagnosis of Kearns-Sayre syndrome is based on clinical symptoms and confirmed by genetic testing to identify mutations in the mitochondrial DNA.
Treatment
There is currently no cure for Kearns-Sayre syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and occupational therapy. In some cases, pacemakers may be used to treat heart block.
See also
- Mitochondrial disease
- Progressive external ophthalmoplegia
- Ptosis
- Retinitis pigmentosa
- Heart block
- Cerebellar ataxia
External links
- Medical encyclopedia article on Kearns-Sayre syndrome
- Wikipedia's article - Kearns-Sayre syndrome
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