What causes INAD disease?

What causes INAD disease?

INAD is caused by a mutation or genetic alteration in the PLA2G6 gene. This gene produces an enzyme called A2 phospholipase. This enzyme is necessary to break down a type of fat called lipids.

Are you born with INAD?

Infantile: INAD is present at birth (a congenital disease). Symptoms typically appear during infancy and before a child is 3 years old. Neuroaxonal: The disease affects axons in nerve cells. Axons carry messages from your brain to the rest of your body.

How does INAD cause death?

Many children with INAD do not live beyond age 10, but some do survive into their teens and early twenties. Death usually occurs due to secondary problems, such as aspiration pneumonia or other infections.

When is Infantile Neuroaxonal Dystrophy diagnosed?

Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disease that often cuts short the life span of a child to 10 years. With a typical onset at 6 months of age, INAD is characterized by regression of acquired motor skills, delayed motor coordination and eventual loss of voluntary muscle control.

Can INAD be cured?

There is no cure for INAD and no treatment that can stop the progress of the disease. Treatment is symptomatic and supportive.

Does INAD cause pain?

The condition is not a painful one and the child will be unaware of what is happening in the later stages of the disease.

Does INAD run in families?

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.

How many cases of INAD are there in the world?

Prevalence is unknown, but more than 150 cases have been described, of which the majority are classic INAD.

Can you test for INAD?

DIAGNOSIS & TESTING An MRI of the brain and an ophthalmologic exam are key tests used to establish the clinical symptoms of INAD.

What is the life expectancy of someone with INAD?

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.

Can you recover from INAD?

Infantile Neuroaxonal Dystrophy Fast Facts Children with INAD usually begin to show symptoms between the ages of six and 18 months. However, a juvenile-onset form of the disorder emerges later in childhood or adolescence. INAD is fatal. Most children with the disorder do not survive past the age of 10.

Is INAD curable?

The neurodegenerative condition, called Infantile Neuroaxonal Dystrophy (INAD), has no known treatment or cure.