Infantile Neuroaxonal Dystrophy (INAD)

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Infantile Neuroaxonal Dystrophy (INAD), Alternate Names; Prenatal or Connatal Neuroaxonal Dystrophy, Seitelberger Disease, 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.

The U.S. Social Security Administration (SSA) has included Infantile Neuroaxonal Dystrophy (INAD) as a Compassionate Allowance to expedite a disability claim.

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 two 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.

Tissue diagnosis and the onset of symptoms in the first two years of age.

Electrophysiology (nerve conduction velocities) may be helpful for diagnosis. However, 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.

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.

INAD is a progressive disease. Once symptoms begin, they will worsen over time.

Generally, a baby's development starts to slow between 6 months to 3 years. The first symptoms may be slowing 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). A baby with INAD will be alert and responsive for the first few years, despite being increasingly physically impaired.

Eventually, the child will lose touch with their surroundings because of deterioration in vision, speech, and mental skills. Death usually occurs between the ages of 5 to 10 years.

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