1. Cockayne-Syndrom: Seltene Erbkrankheit mit fortschreitendem Verlauf.
- Author
-
Hüller, Marit
- Subjects
- *
GENETIC disorders , *SYMPTOMS , *HEARING disorders , *MUSCLE weakness , *WEIGHT gain - Abstract
Cockayne syndrome (CS) is a hereditary disease that is inherited in an autosomal recessive manner. The disease occurs only rarely. The course of the disease is progressive and affected individuals have a severely shortened life expectancy. On average, they die at the age of 12. The disease is divided into three types, which differ in the onset of the disease and the severity of symptoms. Microcephaly, impaired weight gain, and decreased growth are typical of CS. Other symptoms include hearing loss, cataracts, neurological abnormalities, photosensitivity, and muscle weakness. Affected children often initially acquire certain skills, such as walking and speaking simple sentences, but lose these skills. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF