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Neuroaxonal Dystrophy

Neuroaxonal Dystrophy. By Jeaneane P. Kozlowski Presented June 24, 2003 Temple University- Ambler. What is Neuroaxonal Dystrophy?. Neuroaxonal Dystrophy (NAD) is a rare inherited disorder.

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Neuroaxonal Dystrophy

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  1. Neuroaxonal Dystrophy By Jeaneane P. Kozlowski Presented June 24, 2003 Temple University- Ambler

  2. What is Neuroaxonal Dystrophy? • Neuroaxonal Dystrophy (NAD) is a rare inherited disorder. • It affects the nerve axons, which carry messages in the brain and other parts of the body, causing progressive loss of vision, and physical and mental skills.

  3. NAD is an autosomal recessive disorder; both parents are carriers of the disease. Most people carry different faulty genes but in NAD parents, though healthy themselves, carry the same faulty genes, and risk passing them on to their children. Each pregnancy carries a 25 percent chance of the child being affected Prenatal testing is not available The NAD gene has not been found What Causes NAD?

  4. Mother rR Father rR Child 1 r r Child 2 r R Child 3 R R Child 4 R r Genetic Possibility of inheriting NAD from parents who are carriers.

  5. NAD is caused by an abnormal build-up of substances in the nerves throughout the brain and body, which prevents them working properly. Deposits found in the nerve endings going to muscles, skin and around the eyes (conjunctiva). It is not certain how or why these deposits build up on the nerves. Likely that the body clearing unwanted chemicals is not working properly due to a fault in the gene responsible for this action. What are the Genetic Features of NAD?

  6. How Does the Disease Progress? • Development will start to slow down between the ages of six months and two years. • Child will proceed to lose skills previously learned. • Vision will become increasingly impaired and eventually lost. • Child will become “floppy”. • Child will become as dependent as a newborn baby again.

  7. Eventually child will lose all understanding or real awareness of his or her surroundings. • The condition not painful; child will be unaware of what is happening. • Brain’s control of muscles are severely affected. • Assistance with a feeding tube may be needed. • Increase in infections and physical weakness. • Death usually occurs between the ages of 5 to 10 years.

  8. What does a child with NAD look like? Child with NAD at 9 years old

  9. Progression of NAD 15 Months 2 Years 8 Years

  10. Treatment • No treatment available that can stop the disease. • Symptoms treated as they occur. *Drugs to treat infections * pain relief and sedative drugs if required *feeding can be assisted • Comfort can be provided through positioning, seating and exercising

  11. How Do Children With NAD Communicate? • Can not communicate verbally. • Because of regression and degeneration unable to communicate through body language or sign language. • Communicate with a SCATIRSwitch SCATIR http://www.msu.edu/%7Eartlang/SCATIR.html

  12. Providing an Education to Those with NAD. • Placed in a Multiple Disabilities Classroom • Eligible for Inclusion; varies by district • Every child is entitled to an free and appropriate education regardless of disability!!

  13. Research • Research is progressing in ‘mapping’ and understanding genes • NAD gene has not been found. • Unlikely to be discovered quickly enough to help children already affected.

  14. Bibliography Marlow, Eileen. Interview. 9 June 2003. National Institute of Neurological Disorders and Stroke. 22 June 03. http://www.ninds.nih.gov/ “NeuroaxonalDystrophy.” Institute of Child Health. 10 June 2003. http://www.gosh.nhs.uk/ich/index.html “Neuroaxonal Dystrophy.” Yale New Haven Health. 15 June 2003. http://yalenewhavenhealth.org/s_frontpage/index.html

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