How Do You Spell AMAUROTIC FAMILIAL IDIOCY?

Pronunciation: [ˌaməɹˈɒtɪk famˈɪlɪəl ˈɪdɪˌɒsi] (IPA)

Amaurotic Familial Idiocy is a rare genetic disorder that affects children. The word amauriotic is pronounced /ˌæmɔːrəʊtɪk/. The "au" sound is pronounced like "aw" and "r" is pronounced with a slight roll in some dialects. Familial is pronounced /fəˈmɪliəl/ with emphasis on the second syllable. Idiocy is pronounced /ˈɪdɪəsi/ and the "o" is pronounced with a short "i" sound. This complicated spelling highlights the complexity of the condition and the need for specialized medical care.

AMAUROTIC FAMILIAL IDIOCY Meaning and Definition

  1. Amaurotic Familial Idiocy, also known as Tay-Sachs disease, is a rare and devastating genetic disorder that primarily affects the nervous system. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry the faulty gene for their child to develop the disease.

    Individuals with Amaurotic Familial Idiocy lack a vital enzyme called hexosaminidase A, which plays a crucial role in breaking down a fatty substance called GM2 ganglioside. The accumulation of GM2 ganglioside in nerve cells results in progressive damage to the nervous system, leading to severe and irreversible neurological symptoms.

    The disease typically manifests in early infancy, and affected infants initially appear healthy. However, within a few months, developmental regression becomes apparent. These infants experience progressive loss of motor skills, such as crawling and sitting, along with a significant decline in their cognitive abilities.

    One of the most prominent features of Amaurotic Familial Idiocy is the degeneration of the macula, a region of the retina responsible for sharp central vision. Consequently, affected individuals experience a profound and progressive loss of vision, leading to blindness.

    Unfortunately, there is currently no cure for Amaurotic Familial Idiocy. Treatment options focus on managing symptoms and providing supportive care to improve the quality of life for affected individuals. Genetic counseling is crucial for families with a history of the disease, as the identification of carriers can help prevent its transmission to future generations.

    In summary, Amaurotic Familial Idiocy is a rare genetic disorder characterized by the absence of an enzyme necessary for the breakdown of a fatty substance in nerve cells. This leads to progressive neurological deterioration, vision loss, and profound cognitive impairment in affected individuals.

Common Misspellings for AMAUROTIC FAMILIAL IDIOCY

  • zmaurotic familial idiocy
  • smaurotic familial idiocy
  • wmaurotic familial idiocy
  • qmaurotic familial idiocy
  • anaurotic familial idiocy
  • akaurotic familial idiocy
  • ajaurotic familial idiocy
  • amzurotic familial idiocy
  • amsurotic familial idiocy
  • amwurotic familial idiocy
  • amqurotic familial idiocy
  • amayrotic familial idiocy
  • amahrotic familial idiocy
  • amajrotic familial idiocy
  • amairotic familial idiocy
  • ama8rotic familial idiocy
  • ama7rotic familial idiocy
  • amaueotic familial idiocy
  • amaudotic familial idiocy
  • amaufotic familial idiocy

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