What is Canavan disease?
Canavan is a progressive neurological genetic disorder caused by the absence of a vital enzyme known as aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly. It is one of over 50 genetically inherited disorders known as Leukodystrophies Diseases. A cure for Canavan does not yet exist but there are many strategies for managing life with Canavan disease.
The disease is named for Myrtelle Canavan who first described the disorder in 1931. She was one of the first female pathologists and is best known for her description of Canavan.
In 1993 Dr. Rueben Matalon discovered the gene that causes Canavan from tissues provided by several Canavan families. This discovery led to carrier screening and prenatal testing for the disease.
Who is at risk of having Canavan disease?
Anyone can be a carrier of Canavan disease and not have any symptoms. When both parents are carriers, each child has a 25% of having the disease. The carrier rate for the general population is 1/300. Ashkenazi Jews are at high risk with a carrier rate of 1/55. Read more About Inheritance.
Talk to your doctor about Genetic Counseling to discuss your options before starting your family.
What are the symptoms of Canavan disease?
A baby with Canavan may appear normal at birth and typically develops normally for several months. Sometimes symptoms are noticeable at birth. As development slows, parents may notice a reduction in vision and tracking.
What causes Canavan disease?
Canavan disease is caused by the absence of a vital enzyme called aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly.
How is Canavan disease diagnosed?
Canavan disease is diagnosed through a combination of biochemical and DNA tests. Increased amounts of N-acetylaspartic acid (NAA) is found in the urine. Profound deficiency of aspartoacylase is found in cultured skin fibroblasts. Known disease-causing mutations are frequently found through DNA testing. Occasionally, known mutations are not found suggesting novel (or unknown) mutations.
Support: Coping with Canavan disease
There is no treatment or cure for Canavan disease but there are ways to manage symptoms.
NTSAD is the largest organization dedicated to supporting families with members having Canavan, GM1, Sandhoff, or Tay-Sachs - allied diseases that have common symptoms and ways to manage them. We have compiled many resources for family members, provide weekly and monthly updates on events and research, and organize an annual family conference specifically for family members.
Explore the Support web pages: Infantile & Juvenile Support
What research is being done to find a cure for Canavan disease?
To date, there is no treatment or cure for Canavan disease but research is making exciting advances towards a treatment and a cure. Research includes gene therapy, stem cell therapy and acetate supplement.
Where can I research more about Canavan disease?
Orphanet, Online Rare Disease & Orphan Drugs
Canavan Summary and Online Resources
OMIM database of of human genes and genetic phenotypes
Canavan Research Foundation
Ugonjwa wa Canavan ni nini? Kanavan ni ugonjwa wa urithi wa neva unaosababishwa na ukosefu wa enzyme muhimu inayojulikana kama aspartoacylase (ASPA). ASPA huvunja asidi ya N-acetylaspartate (NAA) katika vipande muhimu vya ujenzi wa myelin. Myelin ni membrane ya mafuta (pia inajulikana kama nyenzo nyeupe) ambayo huunda kifuniko cha proactive karibu na kila neva kuhakikisha kazi za neva vizuri. Ni mojawapo ya magonjwa zaidi ya 50 ya urithi yanayoitwa Leukodystrophy. Dawa ya ugonjwa wa Canavan haijapatikana bado lakini kuna mbinu nyingi za kusimamia maisha na ugonjwa wa Canavan. Ugonjwa huo ulipewa jina la Myrtle Canavan, ambaye alifafanua ugonjwa huo kwa mara ya kwanza mwaka wa 1931. Alikuwa mmoja wa wataalamu wa kwanza wa magonjwa ya wanawake na anajulikana zaidi kwa maelezo yake ya Canavan. Mwaka 1993 Dr. Ruben Matalon alivumbua jeni linalohusisha ugonjwa wa Canavan kutokana na tishu zilizotolewa na familia kadhaa za Canavan. Ugunduzi huo uliongoza kwenye uchunguzi wa wabebaji na upimaji wa kabla ya kuzaliwa kwa ugonjwa huo. Ni nani walio katika hatari ya kupatwa na ugonjwa wa Canavan? Mtu yeyote aweza kuwa mtoaji wa ugonjwa wa Canavan na asionekane na dalili zozote. Ikiwa wazazi wote wawili ni wabebaji, kila mtoto ana uwezekano wa asilimia 25 ya kuambukizwa. Kiwango cha wabebaji kwa idadi ya watu kwa ujumla ni 1⁄3. Wayahudi wa Ashkenazi wana hatari kubwa ya kuwa na virusi hivyo. Soma zaidi Kuhusu Urithi. Zungumza na daktari wako kuhusu ushauri wa maumbile ili kuzungumzia chaguzi zako kabla ya kuanzisha familia yako. Dalili za ugonjwa wa Canavan ni zipi? Mtoto mwenye ugonjwa wa Canavan anaweza kuonekana kuwa wa kawaida anapozaliwa na kwa kawaida huendelea kwa kawaida kwa miezi kadhaa. Nyakati nyingine dalili hizo huonekana wakati wa kuzaliwa. Kadiri ukuzi unavyozidi kupungua, huenda wazazi wakagundua kwamba uwezo wa kuona na kufuatilia vitu unazidi kupungua. Ni nini husababisha ugonjwa wa Canavan? Ugonjwa wa Canavan unatokana na ukosefu wa enzyme muhimu inayoitwa aspartoacylase (ASPA). ASPA huvunja asidi ya N-acetylaspartate (NAA) katika vipande muhimu vya ujenzi wa myelin. Myelin ni membrane ya mafuta (pia inajulikana kama nyenzo nyeupe) ambayo huunda kifuniko cha proactive karibu na kila neva kuhakikisha kazi za neva vizuri. Ugonjwa wa Canavan hugunduliwaje? Ugonjwa wa Canavan hugunduliwa kwa kutumia mchanganyiko wa vipimo vya biokemia na DNA. Kiasi kikubwa cha asidi ya N-acetylaspartic (NAA) hupatikana katika mkojo. Upungufu mkubwa wa aspartoacylase hupatikana katika fibroblasts za ngozi zilizopandwa. Mara nyingi mabadiliko yanayojulikana kusababisha magonjwa hupatikana kupitia upimaji wa DNA. Mara kwa mara, mabadiliko yanayojulikana hayapatikani yakidokeza mabadiliko mapya (au yasiyojulikana). Msaada: Kukabiliana na ugonjwa wa Canavan Hakuna matibabu au tiba ya ugonjwa wa Canavan lakini kuna njia za kudhibiti dalili. NTSD ni shirika kubwa zaidi la kusaidia familia zilizo na wanachama wenye ugonjwa wa Canavan, GM1, Sandhoff, au Tay-Sachs - magonjwa yanayohusiana ambayo yana dalili za kawaida na njia za kuyashughulikia. Tumeandaa rasilimali nyingi kwa ajili ya washiriki wa familia, kutoa taarifa za kila wiki na kila mwezi juu ya matukio na utafiti, na kuandaa mkutano wa kila mwaka wa familia hasa kwa ajili ya washiriki wa familia. "Kuchunguza ""Usaidizi wa Watoto na Vijana"" ni utafiti gani unaofanywa ili kupata tiba ya ugonjwa wa Canavan?" Kwa sasa hakuna tiba ya ugonjwa wa Canavan, lakini utafiti unaendelea kwa kasi. Utafiti unatia ndani tiba ya jeni, tiba ya chembe za msingi na nyongeza ya aseti. Ninaweza kufanya utafiti zaidi kuhusu ugonjwa wa Canavan wapi? Orphanets, Online Rare Disease & Orphan Drugs (ORD) ni orodha ya dawa za kawaida zinazopatikana katika jamii ya binadamu na zinazotumiwa na jamii ya binadamu.