How Do You Spell KEARNS SYNDROME?

Pronunciation: [kˈi͡ənz sˈɪndɹə͡ʊm] (IPA)

Kearns Syndrome, a rare genetic disorder, is pronounced /kɜːrnz sɪndroʊm/. The first word, Kearns, is pronounced with a long e sound (/kɜːrnz/), rhyming with learn. The second word, Syndrome, is pronounced with a short i sound (/sɪndroʊm/), rhyming with win-drome. The spelling of this word follows English phonetics, where each letter corresponds to a sound. Proper pronunciation is important for effective communication with doctors and caregivers in managing the condition.

Meaning and Definition
Common Misspellings
Etymology
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KEARNS SYNDROME Meaning and Definition

  1. Kearns Syndrome is a rare genetic disorder that primarily affects the mitochondria, the structures within cells that are responsible for generating energy. This condition is characterized by a diverse range of symptoms involving the eyes and muscles, along with other potential organ involvement.

    Individuals with Kearns Syndrome often present with a variety of ophthalmic manifestations, including progressive external ophthalmoplegia, which is the weakness or paralysis of the eye muscles that control eye movements. Ptosis, or drooping of the eyelids, may also be observed. Vision impairment can progressively worsen over time, leading to significant visual disturbances such as reduced acuity, color vision abnormalities, and even blindness.

    Muscle weakness and exercise intolerance are commonly observed in affected individuals. Affected individuals may experience difficulty performing physical activities, such as walking or running, due to fatigue and muscle weakness. Skeletal muscle weakness, particularly in the proximal muscles, is a hallmark of Kearns Syndrome.

    Other potential symptoms of Kearns Syndrome may include hearing loss, heart rhythm abnormalities, diabetes mellitus, impaired kidney function, and growth delays. The age of onset and severity of symptoms can vary widely among affected individuals.

    Kearns Syndrome is caused by mutations in the mitochondrial DNA (mtDNA) and is inherited in a mother-to-child pattern. Diagnosis is often made based on clinical presentation, genetic testing, and evaluation of muscle biopsies.

    There is no known cure for Kearns Syndrome; management primarily focuses on addressing specific symptoms and complications. This may involve a multidisciplinary approach, including ophthalmologists, neurologists, and other specialists. Genetic counseling may be recommended for affected individuals and their families to discuss the inheritance pattern and potential risks for future generations.

Common Misspellings for KEARNS SYNDROME

  • jearns syndrome
  • mearns syndrome
  • learns syndrome
  • oearns syndrome
  • iearns syndrome
  • kwarns syndrome
  • ksarns syndrome
  • kdarns syndrome
  • krarns syndrome
  • k4arns syndrome
  • k3arns syndrome
  • kezrns syndrome
  • kesrns syndrome
  • kewrns syndrome
  • keqrns syndrome
  • keaens syndrome
  • keadns syndrome
  • keafns syndrome
  • keatns syndrome
  • kea5ns syndrome

Etymology of KEARNS SYNDROME

The term "Kearns Syndrome" is named after Dr. Sir Archibald Garrod Kearns, a British ophthalmologist who first described the condition now known as Kearns-Sayre syndrome. The syndrome is a rare genetic disorder characterized by a combination of symptoms including progressive external ophthalmoplegia (paralysis of the eye muscles), ptosis (droopy eyelids), and pigmentary retinopathy (abnormalities in the pigmented layer at the back of the eye). The etymology of the term is based on the last name of the scientists who first identified and described the syndrome, in this case, Dr. Kearns.