What is Neuroaxonal dystrophy?

Definition. 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.

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.

What is the life expectancy of someone with INAD?

Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disease that often cuts short the life span of a child to 10 years.

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.

What is IRD disease?

Definition. Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements. PBDs are part of a larger group of disorders called the leukodystrophies.

What are leukodystrophies?

Leukodystrophies are a group of rare neurological (nervous system) diseases. They affect the white matter in the brain and spinal cord. White matter is tissue made of insulated nerve fibers. Leukodystrophies target myelin, which is the protective insulation covering nerve cells.

What is NBIA disorder?

See all related organizations. Order NINDS Publications. Definition. 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.

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. MRI stands for magnetic resonance imaging.

When is INAD diagnosed?

The symptoms of INAD usually start to appear between the ages of 6 months and 2 years. A common pattern in young children is loss of previously acquired skills, mental and physical ability and progression of the disease over time.

Can you screen for INAD?

Now, a diagnosis of INAD is confirmed through genetic testing of the PLA2G6 gene to find two gene changes. At least one PLA2G6 gene change is found through DNA sequence analysis in ~85% of individuals.

Can INAD be diagnosed before birth?

Amniocentesis is a diagnostic test. It usually is done between 15 weeks and 20 weeks of pregnancy, but it also can be done up until you give birth.

What are the different kinds of eye diseases?

Common Eye Disorders and Diseases

• Refractive Errors.
• Age-Related Macular Degeneration.
• Cataract.
• Diabetic Retinopathy.
• Glaucoma.
• Amblyopia.
• Strabismus.

How does infantile neuroaxonal dystrophy affect the brain?

Infantile neuroaxonal dystrophy (INAD) is a rare inherited disorder affecting the nerve axons (which are responsible for conducting messages) in the brain and other parts of the body, causing a progressive loss of vision and of physical and mental skills. What is the cause?

Where can I find information on neuroaxonal dystrophy?

NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. The University College London Institute of Child Health has an information page on neuroaxonal dystrophy, infantile.

Where is the National Institute of neurological disorders and stroke?

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to INAD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country.