Infantile Neuroaxonal Dystrophy (INAD)
What is infantile neuroaxonal dystrophy?
Infantile neuroaxonal dystrophy (INAD) is a neurological disorder that affects axons. Axons are responsible for carrying messages from the brain to other parts of the body. It is characterized by a progressive loss of mental skills, control of the muscles, and vision.
What are the symptoms of infantile neuroaxonal dystrophy?
Symptoms are typically noticeable within the first two years of life and progress as one ages. They include:
- The loss of head control
- Deterioration of vision
- Loss of speech
- Loss of ability to walk, crawl, and sit
- Difficulty swallowing
Facial abnormalities may be a symptom, and they include:
- Crossed eyes
- Prominent forehead
- Large and low ears
- Small nose and jaw
What causes infantile neuroaxonal dystrophy?
The PLA2G6 gene is mutated in affected individuals, and it is inherited in an autosomal recessive pattern. The mutation results in an accumulation of phospholipids in the axons. As the buildup continues throughout life, the symptoms progress.
How is infantile neuroaxonal dystrophy diagnosed?
An MRI is used to look for brain iron accumulation, and doctors will also use an ophthalmologic exam. Genetic testing can be used to confirm a diagnosis.
What are the treatments for infantile neuroaxonal dystrophy?
There is no cure or treatment specific to INAD. A team of specialists may be required to manage symptoms.