A Rare Inherited Disorder By Kelly Feite

Seitelberger Disease

ANOTHER NAME FOR NEUROAXONAL DYSTROPHY (NAD)

In 1950, Dr. Seitelberger described the disorder.

Both parents are carriers of the disease. (Recessive disorder)

Less than one in every 200,000 people are affected.

This is an extremely rare inherited disorder of the nervous system characterized by abnormalities of nerve ends (axons) within the brain and spinal cord and outside the central nervous system.

Click below to see these axons under a microscope.http://www.mnepilepsy.org/PDFs/Infantile_Neuroaxonal.pdf

Infants and Children With Neuroaxonal Dystrophy Develops normally until

approximately 14 to 18 months of age. They begin to experience progressively

increased difficulties in walking. Delays in coordination of mental and physical

activities. May then begin to lose previously acquired

skills like sitting and standing. The condition is not painful; child will be

unaware of what is happening.

In some cases… The child may experience involuntary

movements of the face and hands, sudden involuntary muscle spasms of the lower arms and legs.

Neurological impairment including involuntary rapid, side-to-side movements of the eyes.

Vision will become increasingly impaired and eventually lost.

Child will become as dependent as a newborn baby again.

Life-threatening complications may develop by the end of the first decade.

Complications occur due to swelling of nerve endings in certain areas of the brain and spinal cord and outside the central nervous system.

Treatment

No treatment is available that can stop this disease.

Symptoms treated as they occur.

Comfort can be provided through positioning, seating and exercising the child.

Eventually the combination of the diseased brain and physical weakness leads to death usually between the ages of 5 to 10.

Outcome of this disease…

Special Education Placed in a multiple disabilities classroom

Important for the child to have a stimulating environment and social contact.

Child will need his/her limbs exercised to maintain control.

Every child is entitled to a free education regardless of disability.

What a teacher can do to promote learning:

A controlled environment. Low pupil-teacher ratio. Integrated instructional therapies. Children with NAD can not communicate verbally.

Communicate with a SCATIR Switch• (Self-Calibrating Auditory Tone Infrared Switch) • Is an experimental multipurpose momentary-contact optical

switch with auditory feedback designed for people who experience difficulty in activating mechanical switches.

• It works by detecting a beam of reflected pulsed infrared light. • It is suitable for use with a variety of control gestures,

including eye-blink, eyebrow movement, finger movement, head movement, and facial muscle movement.

Support Groups

CLIMB (Children Living with Metabolic diseases)

Provides written information, telephone advice, support and contact with other families.

http://www.climb.org.uk/

BibliographyFrost, Michael M.D., “Infantile Neuroaxonal Dystophy: Early,

Accurate Diagnosis by Nerve/Muscle Biopsy”. 20 September 2003.

http://www.mnepilepsy.org/PDFs/Infantile_Neuroaxonal.pdf

“Infantile Neuroaxonal Dystrophy”. Institute of Child Health. 16 September 2003.

http://www.ich.ucl.ac.uk/factsheets/diseases_conditions/infantile_neuroaxonal_dystrophy/

“Seitelberger Disease”. Northwestern Memorial Hospital. 16 September 2003.

http://www.health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=nord374