Disorders A - Z:   A    B   C    D    E    F    G    H    I    J    K    L    M    N    O    P    Q    R    S    T    U    V    W    X    Y    Z

Skip secondary menu

NINDS Infantile Neuroaxonal Dystrophy Information Page

Synonym(s):   Seitelberger Disease

Table of Contents (click to jump to sections)


Listen to this page using ReadSpeaker


What is Infantile Neuroaxonal Dystrophy ?

Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes.  Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech.  Some children may have seizures.  Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears.  INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child. Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons. 

Is there any treatment?

There is no cure for INAD and no treatment that can stop the progress of the disease.  Treatment is symptomatic and supportive.  Doctors can prescribe medications for pain relief and sedation.  Physiotherapists and other physical therapists can teach parents and caregivers how to position and seat their child, and to exercise arms and legs to maintain comfort. 

What is the prognosis?

INAD is a progressive disease.  Once symptoms begin, they will worsen over time.  Generally, a baby’s development starts to slow down between the ages of 6 months to 3 years.  The first symptoms may be slowing of motor and mental development, followed by loss or regression of previously acquired skills.  Rapid, wobbly eye movements and squints may be the first symptoms, followed by floppiness in the body and legs (more than in the arms). For the first few years, a baby with INAD will be alert and responsive, despite being increasingly physically impaired.  Eventually, because of deterioration in vision, speech, and mental skills, the child will lose touch with its surroundings.   Death usually occurs between the ages of 5 to 10 years.

What research is being done?

Researchers continue to search for the defective gene that causes INAD in hopes of developing drugs that can stop the disease.  The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to INAD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country.  Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as INAD. 

NIH Patient Recruitment for Infantile Neuroaxonal Dystrophy Clinical Trials

Organizations

Column1 Column2
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

NBIA Disorders Association
2082 Monaco Court
El Cajon, CA   92019-4235
info@NBIAdisorders.org
http://www.NBIAdisorders.org
Tel: 619-588-2315
Fax: 619-588-4093



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated April 27, 2012