Desmosterolosis

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Desmosterolosis

Desmosterolosis (pronounced: des-mo-ster-ol-o-sis) is a rare genetic disorder characterized by an accumulation of desmosterol in the body. It is caused by mutations in the DHCR24 gene, which is responsible for the final step in cholesterol synthesis.

Etymology

The term "Desmosterolosis" is derived from the Greek words "desmos" meaning bond and "sterol" which refers to any of a group of natural steroids. The "-osis" suffix indicates a condition or disease.

Symptoms

Desmosterolosis is associated with a wide range of symptoms, including microcephaly, intellectual disability, growth retardation, and congenital anomalies. The severity and combination of symptoms can vary greatly among affected individuals.

Diagnosis

Diagnosis of desmosterolosis is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as genetic testing and biochemical testing.

Treatment

There is currently no cure for desmosterolosis. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage specific symptoms.

Prognosis

The prognosis for individuals with desmosterolosis varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management, while others may experience severe complications.

See also

External links

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