Juvenile Primary Lateral Sclerosis

Juvenile primary lateral sclerosis (JPLS) ,also known as as primary lateral sclerois (PLSJ), is a rare genetic disorder, with a small number of reported cases, characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.

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Symptoms and progression

Symptoms of JPLS begin in early childhood and progress over a period of 15 to 20 years. Early symptoms include clumsiness, muscle spasms, weakness and stiffness in the legs, and difficulty with balance. As symptoms progress, they include weakness and stiffness in the arms and hands, slurred speech, drooling, difficulty swallowing, and an inability to walk.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.

Affected Genes

Mutations in the ALS2 gene cause JPLS. The ALS2 gene provides instructions for making a protein called alsin. Mutations in the ALS2 gene disrupt the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly. It is unknown how the loss of functional alsin protein causes the death of motor neurons and the symptoms of juvenile primary lateral sclerosis.

Treatment

Treatment of ALS2-related disorders includes physical and occupational therapy to promote mobility and independence and use of computer technologies and devices to facilitate writing and voice communication.

Prognosis

See also

• List of genetic disorders