What genetic disorder is categorized by motor ataxia and epilepsy?

What genetic disorder is categorized by motor ataxia and epilepsy?

• A. Cystic Fibrosis
• B. Angelman Syndrome
• C. Down Syndrome
• D. Rett Syndrome

Answer: (B)

Angelman Syndrome is the correct choice because it is characterized by specific neurological and developmental features, including motor ataxia, which is a lack of voluntary coordination of muscle movements leading to unsteady movements, and epilepsy, which is common in individuals with the condition. Children with Angelman Syndrome often display developmental delays, intellectual disabilities, and difficulties with speech. Their movements can be jerky or clumsy, contributing to the ataxia seen in this disorder. Additionally, seizures are prevalent, occurring in about 80-90% of affected individuals. These features are key indicators of Angelman Syndrome and differentiate it from other genetic disorders. The other conditions mentioned have distinct features that do not align with the two key symptoms identified in the question. For instance, Cystic Fibrosis primarily affects the lungs and digestive system rather than presenting with motor ataxia and epilepsy. Down Syndrome is associated with a range of developmental and physical features but does not typically include motor ataxia or epilepsy as defining symptoms. Rett Syndrome involves repetitive hand movements and a regression in development after a period of normal development, but while it may have motor issues, its primary symptoms differ and do not emphasize the combination of ataxia and epilepsy in the same way that Angelman

Angelman Syndrome is the correct choice because it is characterized by specific neurological and developmental features, including motor ataxia, which is a lack of voluntary coordination of muscle movements leading to unsteady movements, and epilepsy, which is common in individuals with the condition.

Children with Angelman Syndrome often display developmental delays, intellectual disabilities, and difficulties with speech. Their movements can be jerky or clumsy, contributing to the ataxia seen in this disorder. Additionally, seizures are prevalent, occurring in about 80-90% of affected individuals. These features are key indicators of Angelman Syndrome and differentiate it from other genetic disorders.

The other conditions mentioned have distinct features that do not align with the two key symptoms identified in the question. For instance, Cystic Fibrosis primarily affects the lungs and digestive system rather than presenting with motor ataxia and epilepsy. Down Syndrome is associated with a range of developmental and physical features but does not typically include motor ataxia or epilepsy as defining symptoms. Rett Syndrome involves repetitive hand movements and a regression in development after a period of normal development, but while it may have motor issues, its primary symptoms differ and do not emphasize the combination of ataxia and epilepsy in the same way that Angelman