View source for Juvenile primary lateral sclerosis

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'''Juvenile Primary Lateral Sclerosis''' is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs and face. The disorder damages [[motor neurons]], which are the specialized nerve cells in the brain and spinal cord that control movement. 

==Symptoms==
Early symptoms of the disorder begin in early childhood. They include clumsiness, muscle spasms, weakness and stiffness in legs, and difficulty with balance. As these symptoms progress over a period of 15 to 20 years, they become more serious. These later symptoms include [[weakness]] and [[stiffness]] in the arms and hands, slurred speech, drooling, difficulty swallowing, and an inability to walk.

==Genetics==


Juvenile Primary Lateral Sclerosis is inherited in an [[autosomal recessive]] pattern, and most often, parents of affected individuals do not show any signs or symptoms. Mutations in the ALS2 gene, found on [[Chromosome 2]], are responsible for causing Juvenile Primary Lateral Sclerosis. Mutations in the ALS2 gene in this disorder 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 currently unknown how the loss of functional alsin protein causes the death of [[motor neurons]] and the symptoms of juvenile primary lateral sclerosis.[http://ghr.nlm.nih.gov/condition=juvenileprimarylateralsclerosis;jsessionid=FEAA139AE9E62722DCC03C4052757023]
Mutations in the ALS2 gene cause juvenile primary lateral sclerosis. 

The ALS2 gene provides instrutions for making a protien called aslin.Alsin is abundant in moter neurons,but its function is not fully understood.Mutations in the ASL2 gene alter the instructions for producing aslin.

[[Image:Autorecessive.svg|thumb|left|200px|This condition is inherited in an [[autosomal recessive]] pattern, meaning two copies of the gene in each cell are altered.]]
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== See also ==
* [[List of genetic disorders]]

==External links==
* [http://www.ghr.nlm.nih.gov/condition=juvenileprimarylateralsclerosis/ Genetics Home Reference - JPLS]



[[Category:Genetic disorders]]


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