Angelman Syndrome
Description of the Disease
An extremely rare and uncommon disease known as Angelman Syndrome is a very complex neurodevelopmental and monogenic disorder (Bailus, 2014). The term neurodevelopmental refers to the shape, reshape, state and generation of the nervous system during the embryonic stages of life, while the term monogenic can be explained as a disease, which is controlled and inherited, by a single pair of genes (Gentile, 2009). It is estimated that Angelman Syndrome effects approximately one in every fifteen to twenty thousand individuals around the world, and is known by medical professionals to be one of the most uncommon diseases to date (Duca, 2013). The disease was named after a British pediatrician, Dr. Harry Angelman. In 1960, Dr. Angelman consulted with multiple …show more content…
There are many common characteristics of Angelman Syndrome, which can be signs and symptoms of the disease and often include ataxia, microcephaly and epilepsy. Ataxia is a condition that affects movement, balance and motor control of an individual. Microcephaly is a condition where small and abnormal head sizes are present. Various types of epilepsy’s, which is displayed as recurrent seizures of the body (Leung, 2013). Angelman Syndrome causes individuals to appear continuously happy all the time, with a smile upon their faces and have uncontrollable spurts of excitement (Panda, 2013). AS does not follow general inheritance patterns. Due to its monogenic properties, Angelman Syndrome does not have sex preferences and both females and males have the same probability of inheriting the disease (Gupta, 2014). Unlike many diseases where the disorder favors one sex, known as sex-linked or sex-limited disorders, the chromosomes associated with Angelman Syndrome do not correlate to the sex chromosomes and is not influenced by
Description of the Disease
An extremely rare and uncommon disease known as Angelman Syndrome is a very complex neurodevelopmental and monogenic disorder (Bailus, 2014). The term neurodevelopmental refers to the shape, reshape, state and generation of the nervous system during the embryonic stages of life, while the term monogenic can be explained as a disease, which is controlled and inherited, by a single pair of genes (Gentile, 2009). It is estimated that Angelman Syndrome effects approximately one in every fifteen to twenty thousand individuals around the world, and is known by medical professionals to be one of the most uncommon diseases to date (Duca, 2013). The disease was named after a British pediatrician, Dr. Harry Angelman. In 1960, Dr. Angelman consulted with multiple …show more content…
There are many common characteristics of Angelman Syndrome, which can be signs and symptoms of the disease and often include ataxia, microcephaly and epilepsy. Ataxia is a condition that affects movement, balance and motor control of an individual. Microcephaly is a condition where small and abnormal head sizes are present. Various types of epilepsy’s, which is displayed as recurrent seizures of the body (Leung, 2013). Angelman Syndrome causes individuals to appear continuously happy all the time, with a smile upon their faces and have uncontrollable spurts of excitement (Panda, 2013). AS does not follow general inheritance patterns. Due to its monogenic properties, Angelman Syndrome does not have sex preferences and both females and males have the same probability of inheriting the disease (Gupta, 2014). Unlike many diseases where the disorder favors one sex, known as sex-linked or sex-limited disorders, the chromosomes associated with Angelman Syndrome do not correlate to the sex chromosomes and is not influenced by