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Don’t fight Juvenile amyotrophic lateral sclerosis alone.
Find your community on the free RareGuru App.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:
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.
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.
Source: GARD Last updated on 05-01-20
Signs and symptoms of juvenile amyotrophic lateral sclerosis (JALS) begin before age 25 (which defines the juvenile form). All people with JALS eventually develop symptoms of both upper and lower motor dysfunction, but the symptoms, rate of progression, and severity varies from person to person.
Signs of upper motor neuron dysfunction include the Babinski sign, muscle spasms, and overactive reflexes (hyperreflexia). Lower motor neuron signs include muscle wasting (atrophy), weakness, and muscle twitches. Facial spasticity, slurred speech (dysarthria), and a spastic gait are common. Some people with JALS have uncontrolled laughter or crying, bladder dysfunction, and/or sensory disturbances. Cognitive function is not affected. The disease is usually slowly progressive but the rate of progression varies. People with JALS may become unable to move by age 12 to age 50.
Last updated on 05-01-20
Juvenile amyotrophic lateral sclerosis (JALS) can be caused by mutations in any of several genes including ALS2 , SIGMAR1 , SPG11 , SETX , SOD1 , UBQLN2 , FUS, _and TARDBP_. Mutations bay be inherited from a parent or occur for the first time in a person with the disease. Inheritance may be autosomal recessive or autosomal dominant depending on the gene involved.
Genes responsible for amyotrophic lateral sclerosis (ALS) are important for normal functioning of motor neurons and other cells. It isn't always clear how mutations in these genes cause ALS.
Last updated on 05-01-20
There is no specific treatment for juvenile amyotrophic lateral sclerosis (JALS). Management generally involves strategies to to relieve symptoms and to promote mobility and independence. Medications may include those for specific symptoms such as fatigue and muscle cramping. Physical therapy and special equipment can be helpful. Multidisciplinary teams of various health care professionals can help to develop personalized treatment plans.
Last updated on 05-01-20
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