Late Infantile Neuroaxonal Dystrophy (LINAD) is a rare neurodegenerative disorder that primarily affects infants and young children. It is characterized by the progressive degeneration and destruction of nerve fibers in the brain and other parts of the nervous system. LINAD belongs to a group of disorders known as neuroaxonal dystrophies, which are characterized by abnormal accumulation of axonal swellings or spheroids.
Symptoms of late infantile neuroaxonal dystrophy typically begin to manifest between the ages of 1 and 2 years. Affected children typically experience a delay or regression in developmental milestones, such as sitting, crawling, and walking. They may demonstrate muscle weakness, poor muscle tone, and difficulty with coordination and balance. Vision problems, including optic atrophy and retinal degeneration, are also common in LINAD. Additionally, affected individuals may experience cognitive decline and intellectual disability, seizures, and speech difficulties.
The exact cause of late infantile neuroaxonal dystrophy is currently unknown, although it is believed to have a genetic basis. LINAD is inherited in an autosomal recessive manner, meaning that affected individuals have inherited two copies of the mutated gene, one from each parent, who are typically carriers of the disorder.
Unfortunately, there is currently no cure for LINAD. Treatment options aim to manage symptoms and improve an affected individual's quality of life. Supportive care, including physical and occupational therapy, may help to maintain mobility and enhance overall function. Additionally, medications may be prescribed to manage specific symptoms such as seizures or movement difficulties.
The prognosis for individuals with late infantile neuroaxonal dystrophy is generally poor, with most affected children experiencing a progressive, severe decline in neurological function over time. Life expectancy is typically reduced, with many individuals succ
