Gyrate atrophies is a medical term used to describe a group of inherited disorders that result in muscle weakness and degeneration. The word "gyrate" is spelled with a hard "g" sound and is pronounced /dʒaɪˈreɪt/. The word "atrophy" is spelled with a silent "h" and is pronounced /ˈætrəfi/. When combined, these words create a complex term that can be difficult to pronounce and spell correctly. However, with the help of correct phonetic transcription, one can master the spelling and pronunciation of this word.
Gyrate atrophies, also known as gyrate atrophic retinopathy, refer to a group of rare inherited retinal disorders characterized by progressive degeneration and atrophy of the retina, the light-sensitive layer located at the back of the eye.
Gyrate atrophies are caused by mutations in the ornithine decarboxylase (ODC) gene, which results in the deficiency or absence of the enzyme ornithine decarboxylase. This enzyme plays a crucial role in the breakdown of the amino acid ornithine. Without functional ODC, ornithine accumulates to toxic levels within the cells of the retina, leading to retinal degeneration and vision loss.
The condition is typically characterized by symptoms such as night blindness, narrowed visual field, decreased visual acuity, and progressive loss of peripheral vision. As the disease progresses, individuals may experience a gradual decline in central vision, leading to significant visual impairment or even legal blindness.
There are two main forms of gyrate atrophy: Type I and Type II. Type I usually develops in childhood and progresses more rapidly than Type II, which typically presents in adulthood.
Due to the progressive nature of the condition, there is currently no cure for gyrate atrophies. However, treatment options aim to manage symptoms and slow disease progression. These may include dietary modifications to limit the intake of arginine, which is a precursor of ornithine, and vitamin B6 supplementation to support the function of the remaining ODC enzyme. Regular ophthalmologic follow-ups may also be recommended to monitor the progression of the disease and address any emerging complications.
The term "gyrate atrophies" consists of two components: "gyrate" and "atrophies".
The word "gyrate" is derived from the Latin word "gyratus", which means to "circular motion" or "to turn around or revolve". It comes from the Latin verb "gyrare", meaning "to turn" or "to revolve". The term "gyrate" describes a spiral or circular movement.
The term "atrophies" is derived from the Greek word "atrophia", which means "a wasting away" or "lack of nourishment". It comes from the Greek words "a-" (without) and "trophos" (nourishment or food). "Atrophy" refers to the degeneration or shrinkage of a tissue or organ due to a lack of nourishment or stimulation.