This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Juvenile amyotrophic lateral sclerosis (JALS) is a rare motor neuron disease characterized by progressive degeneration of upper and lower motor neurons. Motor neurons are nerve cells that control voluntary muscle activity. Symptoms of JALS typically begin before age 25, but often in early childhood. Symptoms include facial spasticity, dysarthria, and a spastic gait (manner of walking). Some people have uncontrolled laughter and weeping, mild wasting of the legs and hands, bladder dysfunction, and/or sensory disturbances. The disease is usually slowly progressive but rate of progression varies. People with JALS may become unable to move by age 12 to age 50.
JALS includes several subtypes, distinguished by the specific variations (mutations) in any of several genes, including:
Mutations may be inherited from a parent or may occur for the first time in a person with the disease. Inheritance may be autosomal recessive or autosomal dominant depending on the gene involved.
There is no specific treatment for JALS. Management generally involves physical and occupational therapy to promote mobility and independence.
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