Skip to main content

Infantile Neuroaxonal Dystrophy (INAD)

Infantile Neuroaxonal Dystrophy (INAD)



Overview

Infantile neuroaxonal dystrophy (INAD) is a rare disease that causes fat substances (lipids) to build up on nerves. It affects nerve signals, leading to a gradual loss of muscle control, vision, speech and intellectual development. These symptoms typically appear in infancy but may occur as late as adolescence.

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.

What does “infantile neuroaxonal dystrophy” mean?

You may better understand this disease when you break down each word’s meaning:

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.

Dystrophy: Dystrophy is the medical term for disorders that cause tissues, organs and muscles to waste away.

What are the types of INAD?

Infantile neuroaxonal dystrophy is the most common type. Healthcare providers may call it the classic form of INAD. As the name implies, symptoms are evident during infancy.

With atypical INAD (aNAD), symptoms appear around age 4, or more rarely, as late as the teen years. Your child may have speech delays or appear to have autism spectrum disorder. The disease progression is slower.

Symptoms

With classic INAD, your infant is often on track for normal child development for the first six months to three years of life. Then, they slowly begin to lose acquired skills like sitting, crawling, walking and talking. This regression is often due to muscle wasting, which leads to low muscle tone (hypotonia). Your child may appear floppy, especially in their trunk area. As the disease progresses, muscle stiffness or spasticity occurs.

Children with INAD may also experience:

Ataxia (coordination and balance problems).

Difficulty swallowing (dysphagia).

Hearing loss.

Inability to hold up or control their heads.

Loss of cognitive function that leads to dementia.

Seizures.

Speech problems (dysarthria) due to muscle weakness.

Squinting, wobbly eye movements (nystagmus) or other problems like loss of vision.

Infants with INAD often have distinct facial changes noticeable at birth, such as:

Crossed eyes (strabismus).

Large, low-setting ears.

Prominent forehead.

Small nose or jaw.

Causes

Children with INAD inherit a changed or mutated PLA2G6 gene from each parent. This gene helps make an enzyme (a type of protein) called A2 phospholipase that breaks down fats called phospholipids. This type of fat metabolism keeps nerve cells intact so they function properly.

In children with INAD, the changed PLA2G6 gene hinders enzyme production and function. Sphere-shaped substances called spheroid bodies build up on nerves. These deposits often accumulate on nerve endings that connect to their eyes, muscles and skin. Iron may also build up on their brain.

Diagnosis

If this disease runs in your family, a prenatal test can determine whether a developing fetus has inherited the mutated gene. A chorionic villus sampling (CVS) test checks placenta cells for the genetic mutation.

Tests for infants, children and adults include:

Blood test to look for the mutated PLA2G6 gene. A genetic test identifies the disease in 8 of 10 children with INAD.

Electroencephalogram (EEG) to look for seizure activity.

MRI to look for changes to the brain.

Nerve conduction test like an electromyogram.

Skin biopsy or a biopsy on nerves or tissue to look for spheroid bodies in nerve axons.

Treatment

There isn’t a medical treatment or cure for infantile neuroaxonal dystrophy. Treatments focus on easing symptoms to keep your child comfortable. These therapies include:

Anticonvulsants (seizure medications).

Feeding tube (enteral nutrition).

Medications to ease stiff muscles.

Pain relievers.

Physical therapy and proper positioning to support a child’s head and weakened muscles.

Sedatives.

Medical experts are conducting research and clinical trials to find new ways to stop the disease progression and potentially cure INAD. Potential therapies in development include:

Enzyme replacement therapy.

Gene therapy.

Type of Doctor Department : A pediatric neurologist

Comments

Post a Comment

Popular posts from this blog

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...
7 comments
Read more

Sjogren's syndrome

Sjogren's syndrome Overview Sjogren's (SHOW-grins) syndrome is a disorder of your immune system identified by its two most common symptoms — dry eyes and a dry mouth. The condition often accompanies other immune system disorders, such as rheumatoid arthritis and lupus. In Sjogren's syndrome, the mucous membranes and moisture-secreting glands of your eyes and mouth are usually affected first — resulting in decreased tears and saliva. Although you can develop Sjogren's syndrome at any age, most people are older than 40 at the time of diagnosis. The condition is much more common in women. Treatment focuses on relieving symptoms. Symptoms The two main symptoms of Sjogren's syndrome are: Dry eyes . Your eyes might burn, itch or feel gritty — as if there's sand in them. Dry mouth. Your mouth might feel like it's full of cotton, making it difficult to swallow or speak. Some people with Sjogren's syndrome also have one or more of the following: Joint pain, swel...
Post a Comment
Read more

Aarskog syndrome

  Aarskog syndrome is a very rare disease that affects a person's height, muscles, skeleton, genitals, and appearance. It can be passed down through families (inherited). Causes Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGD1). Symptoms Symptoms of this condition include: Belly button that sticks out Bulge in the groin or scrotum Delayed sexual maturity Delayed teeth Downward palpebral slant to eyes (palpebral slant is the direction of the slant from the outer to inner corner of the eye) Hairline with a "widow's peak" Mildly sunken chest Mild to moderate mental problems Mild to moderate short height which may not be obvious until the child is 1 to 3 years old Poorly developed middle section of the face Rounded face Scrotum surrounds the penis (shawl scrotum) Short fingers and to...
Post a Comment
Read more