How long can you live with infantile Neuroaxonal dystrophy?
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 is the cause of death for INAD?
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.
Is there a cure for infantile Neuroaxonal dystrophy?
An inherited gene change (mutation) causes INAD. It’s a type of lipid storage disorder. Unfortunately, there isn’t a cure for this life-threatening condition.
How rare is infantile Neuroaxonal dystrophy?
What is its prevalence? The prevalence of INAD is not known. It is believed to be a very rare disorder. The prevalence for PLA2G-associated neurodegeneration as a group is estimated to be about 1 in 1,000,000 in the general population.
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.
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.
What is the PLA2G6 gene?
The PLA2G6 gene provides instructions for making a type of enzyme called an A2 phospholipase. This type of enzyme is involved in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is important for many body processes, including helping to maintain the integrity of the cell membrane.
What does Neuroaxonal mean?
[ nur′ō-ăk′sə-nəl, -ăk-sŏn′əl ] adj. Of, relating to, or being the axon of a neuron.
How do you know if you’re an INAD carrier?
DIAGNOSIS & TESTING An MRI of the brain and an ophthalmologic exam are key tests used to establish the clinical symptoms of INAD. MRI stands for magnetic resonance imaging. An MRI produces a picture of the body that is created using a magnetic field and a computer.
What is NBIA disorder?
Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system.
How is infantile Neuroaxonal dystrophy inherited?
Inheritance. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.