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Canavan Disease is a rare genetic disorder that affects the brain. It can cause problems with movement, muscle tone, and development. Children with Canavan Disease may have difficulty reaching developmental milestones like sitting up, crawling, or talking.
How is Canavan Disease diagnosed?
Canavan Disease can be diagnosed through genetic testing, where a blood sample is taken to analyze the ASPA gene for mutations associated with the condition.
Is Canavan Disease inherited?
Yes, Canavan Disease is an autosomal recessive genetic disorder, meaning that both parents must carry a mutated copy of the ASPA gene to pass the condition on to their child. If both parents are carriers, there is a 25% chance of having an affected child in each pregnancy.
Can genetic testing be done before or during pregnancy to determine if a child will have Canavan Disease?
Yes, genetic testing can be performed before or during pregnancy to determine if both parents are carriers of the ASPA gene mutation. Preimplantation genetic diagnosis (PGD) and prenatal testing can help identify whether a child is at risk for Canavan Disease, allowing parents to make informed decisions about family planning and potential interventions.
Is Canavan Disease inherited?
Yes, Canavan Disease is an autosomal recessive genetic disorder, meaning that both parents must carry a mutated copy of the ASPA gene to pass the condition on to their child. If both parents are carriers, there is a 25% chance of having an affected child in each pregnancy.
Canavan Disease, also known as Canavan-Van Bogaert-Bertrand Disease, is an autosomal recessive genetic disorder characterized by the absence or malfunction of an enzyme called aspartoacylase. This enzyme breaks down a substance called N-acetylaspartic acid (NAA) in the brain. When the enzyme is deficient or nonfunctional, NAA accumulates in the brain, destroying myelin, the protective covering of nerve cells. This progressive destruction affects the brain’s white matter, leading to impaired motor skills, muscle stiffness, and intellectual disability. Canavan Disease typically becomes evident in early infancy, and its severity can vary from person to person.
Canavan Disease is characterized by various symptoms impacting a child’s physical and cognitive development. Understanding these symptoms is crucial for early detection and intervention.
Recognizing the symptoms of Canavan Disease is vital for timely diagnosis and accessing appropriate support and treatments. Goally, a tablet device, provides apps that assist kids with Canavan Disease develop essential life and language skills. Goally supports communication, executive functioning, emotional regulation, and social skills through visual schedules, AAC, gamified learning, and skill training videos.
