Infantile neuroaxonal dystrophy
Infantile Neuroaxonal Dystrophy (INAD, pronounced: in-fan-tile neu-ro-ax-on-al dis-tro-phy) is a rare and severe neurodegenerative disorder that primarily affects infants and young children. The term is derived from the Greek words infant (meaning young child), neuro (referring to the nervous system), axon (a part of the nerve cell where electrical impulses are transmitted), and dystrophy (indicating abnormal growth or development).
Definition
Infantile Neuroaxonal Dystrophy is characterized by the progressive loss of vision, mental and motor skills. This condition is caused by an abnormal accumulation of substances in the nerve endings, leading to the destruction of neurons in the brain and spinal cord.
Symptoms
The symptoms of INAD usually appear between the ages of 6 months and 2 years. They may include slow development, loss of previously acquired skills, weak muscle tone (hypotonia), and small, involuntary eye movements (nystagmus). Over time, affected children may develop seizures, become completely disabled, and lose their ability to interact with their environment.
Causes
Infantile Neuroaxonal Dystrophy is caused by mutations in the PLA2G6 gene. This gene provides instructions for making an enzyme that is found in neurons and is involved in the metabolism of certain fats in the body.
Diagnosis
Diagnosis of INAD is based on the observation of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests such as MRI and genetic testing.
Treatment
There is currently no cure for Infantile Neuroaxonal Dystrophy. Treatment is symptomatic and supportive, and may include physical therapy, medication to control seizures, and other measures to help manage symptoms.
Prognosis
The prognosis for individuals with INAD is poor, with most children not surviving past their tenth birthday. However, research is ongoing and new treatments are being explored.
See Also
External links
- Medical encyclopedia article on Infantile neuroaxonal dystrophy
- Wikipedia's article - Infantile neuroaxonal dystrophy
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