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Life expectancy is around 50 to 60 years in the developed world, with proper health care. [9] [10] Regular screening for health issues common in Down syndrome is recommended throughout the person's life. [9] Down syndrome is the most common chromosomal abnormality, [25] occurring in about 1 in 1,000 babies born worldwide, [1] and one in 700 in ...
The spindle assembly checkpoint (SAC) is an active signal produced by improperly attached kinetochores, which is conserved in all eukaryotes. The SAC stops the cell cycle by negatively regulating CDC20, thereby preventing the activation of the polyubiquitynation activities of anaphase promoting complex (APC).
9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q 34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip.
Leukodystrophy is characterized by specific symptoms, including decreased motor function, muscle rigidity, and eventual degeneration of sight and hearing. While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset.
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination (ataxia). The condition typically manifests in childhood or adolescence, with initial ...
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2] However, Beals and Hecht discovered in 1972 that ...
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons). [1] Where known, these disorders are inherited in an autosomal recessive fashion.
Frequency. 2 to 4 per 100,000 births in the US [1] Batten disease is a fatal disease of the nervous system that typically begins in childhood. [1] Onset of symptoms is usually between 5 and 10 years of age. [1] Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). [1]