Neuroaxonal dystrophy
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What is Infantile Neuroaxonal Dystrophy ?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
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?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
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Last updated February 14, 2007