Juvenile amyotrophic lateral sclerosis

Disease Overview

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.[13408] Symptoms of JALS typically begin before age 25, but often in early childhood.[13408][13409] 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.[13408] The disease is usually slowly progressive but rate of progression varies.[13409] People with JALS may become unable to move by age 12 to age 50.[13408]

JALS includes several subtypes, distinguished by the specific variations (mutations) in any of several genes, including:[13408][13409]

• ALS2 caused by mutations in the ALS2 gene
• ALS16 caused by mutations in the SIGMAR1 gene
• ALS5 caused by mutations in the SPG11 gene
• ALS4 caused by mutation in the SETX gene

There are some reports of  JALS caused by mutations in the  UBQLN2 (related to ALS15), FUS (related to ALS6) and TARDBP (related to ALS10) genes.[13408][13409][14655][14656]

Mutations may be inherited from a parent or may occur for the first time in a person with the disease.[13409] Inheritance may be autosomal recessive or autosomal dominant depending on the gene involved.[13408][13409]

There is no specific treatment for JALS. Management generally involves physical and occupational therapy to promote mobility and independence.[13408]

Synonyms

• Amyotrophic lateral sclerosis, juvenile
• JALS
• Juvenile Charcot disease
• Juvenile Lou Gehrig disease