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 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.
DIAGNOSTIC TESTING AND CODING
Tissue diagnosis and onset of symptoms in the first 2 years of age.
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
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.