How Do You Spell CANAVAN VAN BOGAERT BERTRAND DISEASE?

Pronunciation: [kˈanɐvˌan vˈan bˈɒɡe͡ət bˈɜːtɹand dɪzˈiːz] (IPA)

Canavan van Bogaert Bertrand Disease is a rare genetic disorder that affects the nervous system. The word is spelled using the International Phonetic Alphabet transcription system as kəˈnævən væn bəʊˈɡɑːrt bɛrˈtrænd dɪˈziːz. The phonetic transcription helps people to better understand the pronunciation of the word, which can be difficult to spell due to the multiple consonant clusters and the use of vowels that are not commonly used in English. This disease primarily affects infants and young children and can cause brain damage, muscle weakness, and developmental delays.

CANAVAN VAN BOGAERT BERTRAND DISEASE Meaning and Definition

1. Canavan van Bogaert Bertrand Disease, commonly known as Canavan disease, is a rare and severe genetic disorder that affects the central nervous system. It is a progressive disorder that primarily affects the brain's white matter, which is responsible for transmitting signals between different regions of the brain and spinal cord. The disease is inherited in an autosomal recessive pattern, meaning that it occurs when an individual inherits two copies of the mutated gene - one from each parent.

   The disease is caused by a genetic mutation affecting the ASPA gene, which encodes an enzyme called aspartoacylase. This enzyme's primary function is to break down a substance called N-acetylaspartic acid (NAA) in the brain. In individuals with Canavan disease, the absence or deficiency of functional aspartoacylase leads to an abnormal accumulation of NAA within the brain, resulting in progressive damage to the myelin sheath - the protective covering surrounding nerve fibers.

   Infants born with Canavan disease generally appear normal at birth, but symptoms often start to manifest within the first few months of life. Common symptoms include developmental delays, lack of motor skills, worsened muscle tone, and an inability to reach motor milestones. Additionally, most individuals with Canavan disease experience weak muscle control (hypotonia), feeding difficulties, and ultimately severe intellectual disability.

   While there is no cure for Canavan disease, treatment mainly focuses on managing symptoms and providing supportive care. Physical therapy, speech therapy, and special education programs may help to maximize a patient's potential and improve quality of life. Research into potential treatments and gene therapies is ongoing, offering hope for future interventions.

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