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Canavan Disease

What is Canavan Disease?

Canavan Disease is a rare neurological disorder that is caused by an inherited genetic abnormality which results in the degeneration of the white matter in the brain.The condition begins in infancy with symptoms typically developing between 3-6 months following birth. Symptoms can vary but may include an abnormally large head (macrocephaly), lack of head control, developmental problems including “floppiness” from reduced muscle tone and an inability to walk, sit or talk. Although symptoms and signs may vary initially, children typically develop life-threatening complications by 10 years. Myrtelle Canavan, a pathologist, first described Canavan Disease in 1931, but it wasn’t until 1993 that Dr. Rueben Matalon discovered the gene responsible for causing the disease.

 

Canavan Disease is a rare neurological disorder that is caused by an inherited genetic abnormality which results in the degeneration of the white matter in the brain.The condition begins in infancy with symptoms typically developing between 3-6 months following birth. Symptoms can vary but may include an abnormally large head (macrocephaly), lack of head control, developmental problems including “floppiness” from reduced muscle tone and an inability to walk, sit or talk. Although symptoms and signs may vary initially, children typically develop life-threatening complications by 10 years. Myrtelle Canavan, a pathologist, first described Canavan Disease in 1931, but it wasn’t until 1993 that Dr. Rueben Matalon discovered the gene responsible for causing the disease.

Acknowledgement of Canavan Disease has not been added yet.

Canavan Disease affects both males and females, and all ethnic groups. However, the disease is much more prevalent in individuals of Ashkenazi (German & Eastern European) Jewish descent. 1 in 40-58 individuals in this population carry at least one defective copy of the gene associated with Canavan Disease. The overall carrier frequency and incidence of the disease in the general population is unknown.

Synonyms for Canavan Disease has not been added yet.

Individuals with Canavan Disease have a mutation in the gene for an enzyme called aspartoacylase (ASPA), which is responsible for breaking down N-acetylaspartic acid (NAA). NAA is a compound that is believed to play a key role in the maintenance of the brain’s white matter. As a result of NAA not being broken down efficiently by ASPA, NAA starts to accumulate in brain tissue and the high levels of this compound cause damage to the white matter. 

Canavan Disease belongs to a group of disorders called Leukodystrophies, which are rare, progressive, metabolic, genetic disorders that can affect the brain, spinal cord and nerves outside the central nervous system (peripheral nerves). Each type of leukodystrophy is the result of a specific gene abnormality that causes abnormal development of one of at least 10 different chemicals that make up the brain’s white matter.

The gene mutation is inherited as an autosomal recessive trait, meaning that a dysfunctional copy of the gene needs to be inherited from both parents. The defective gene has been associated with chromosome 17 (17pter-p13). 

 

Symptoms and progression of Canavan Disease can vary, but the following are common symptoms and signs:

  • Extremely poor head control

  • Macrocephaly (large head)

  • Severely diminished muscle tone (hypotonia)

  • Difficulty swallowing, which in turn leads to feeding difficulties

  • Unresponsiveness, fatigue or irritability

  • Delays in significant developmental milestones, such as sitting or walking independently ( most affected infants never walk independently)

  • Seizures

  • Sleeping problems

  • Nasal regurgitation (when food and liquids move up the nose with swallowing)

  • Acid reflux

  • Deterioration of the nerves in the eyes resulting in optic atrophy and reduced visual responsiveness.

  • Hearing loss may occur

As affected infants age, hypotonia can progress into muscle spasms, slow, stiff leg movements, and can even worsen to paralysis. The severity and rate of disease progression vary, and the life-threatening complications associated with the disease may develop in infancy or later in teenage years in some cases. 

Affected infants are suspected to have Canavan Disease with the characteristic signs and symptoms as listed above. A diagnosis may be confirmed through clinical assessment, detailed patient history and through a range of specialized tests. 

Prenatal diagnosis is also available through amniocentesis in which the level of NAA in the amniotic fluid, fluid surrounding the developing fetus, is measured. This is measured at 16-18 weeks of gestation. If both parents are known to have ASPA gene mutations, prenatal testing is available using chorionic villus sampling which involves taking a sample of placental cells at 10-12 weeks gestation.

 

Specialized tests that may be used to confirm diagnosis include:

  • Gas chromatography-mass spectrometry, a device used to detect high levels of NAA in the urine.

  • Blood and cerebrospinal fluid samples may also be collected as these can also detect elevated levels of NAA.

  • Connective tissue cell samples from the skin (cultured fibroblasts) may also be collected to reveal ASPA deficiency. 

Unfortunately, there is no cure or specific treatment for the disease. However, symptoms can be managed through professional support and supportive care. Physical therapy and early intervention may be helpful in improving posture or communication skills. Feeding tubes may be used for any swallowing problems, and anti-seizure medications may be used to treat associated seizures. 

 

Although the prognosis for Canavan Disease is poor and individuals typically do not live beyond the age of 10, some children may live into their teens and twenties.

Tips or Suggestions of Canavan Disease has not been added yet.

Canavan Foundation. About Canavan Disease. 2021. Available from: https://www.canavanfoundation.org/about_canavan_disease#:~:text=Canavan%20disease%20is%20a%20progressive,proper%20transmission%20of%20nerve%20signals. 

National Institute of Neurological Disorders and Stroke. Canavan Disease Information Page. 2019. Available from: https://www.ninds.nih.gov/Disorders/All-Disorders/Canavan-Disease-Information-Page 

National Organization for Rare Disorders. Canavan Disease. 2015. Available from: https://rarediseases.org/rare-diseases/canavan-disease/ 

National Tay-Sachs & Allied Diseases Association (NTSAD). Canavan Disease. 2016. Available from: https://www.ntsad.org/index.php/canavan 

 

Community Details Update Created by RareshareTeam
Last updated 28 Mar 2021, 12:18 AM

Posted by RareshareTeam
28 Mar 2021, 12:18 AM

Hi everyone,

The Canavan Disease community details have been updated. We added more information about the cause, prevalence, symptoms, diagnosis, and treatment. Hopefully, you find it helpful. 

 

Community Resources
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Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Pediatric Physical Therapist specializing in rare conditions and multiple disabilities
I'm mother of a 3 years old girl.

 

she have canavan disorder,im looking for help and support.
i am the parent of a 8 month old Canavan child looking for support.

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Community Details Update

Created by RareshareTeam | Last updated 28 Mar 2021, 12:18 AM


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