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Genetic and Rare Diseases Information Center (GARD)

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Juvenile amyotrophic lateral sclerosis


Other Names for this Disease
  • Amyotrophic lateral sclerosis, juvenile
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Overview



What is juvenile amyotrophic lateral sclerosis?

What are the signs and symptoms of juvenile amyotrophic lateral sclerosis?

What causes juvenile amyotrophic lateral sclerosis?

How might juvenile amyotrophic lateral sclerosis be treated?


What is juvenile amyotrophic lateral sclerosis?

Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement.[1][2] Signs and symptoms of juvenile ALS tend to present by age 25 years or younger.  Unlike other types of ALS, juvenile ALS is not rapidly progressive.[3][4] People with juvenile ALS can have a normal life expectancy. Juvenile ALS is often genetic and may be inherited in an autosomal dominant or autosomal recessive fashion.[3][4]

Last updated: 7/8/2013

What are the signs and symptoms of juvenile amyotrophic lateral sclerosis?

Signs and symptoms of juvenile ALS vary but include slowly to very slowly progressive muscle weakness, increased muscle tone, Babinski reflex, muscle spasm (clonus), exaggerated reflexes, muscle wasting, and muscle twitching. Juvenile ALS usually does not affect thinking or mental processing, nor does it tend to cause sensory dysfunction (e.g., numbness or tingling). As the condition progresses muscle involvement can be severe. Some people with juvenile ALS, eventually experience muscle weakness in the face and throat. Some have experienced emotional liability (involuntary crying or laughing) and/or respiratory weakness.[1][3][4]
Last updated: 7/8/2013

What causes juvenile amyotrophic lateral sclerosis?

Juvenile amyotrophic lateral sclerosis (ALS) is often genetic and may be caused by mutations in the ALS2 or SETX genes. In some cases the underlying gene abnormality cannot be determined. Juvenile ALS may be inherited in an autosomal dominant (as in ALS type 4) or autosomal recessive (as in ALS type 2) fashion.[1][3]
Last updated: 7/8/2013

How might juvenile amyotrophic lateral sclerosis be treated?

Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful. Multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; and social workers can help to develop personalized treatment plans.[2]

While the Food and Drug Administration (FDA) has approved riluzole (Rilutek) for treatment of ALS, we found limited information regarding its use for juvenile ALS. We recommend that you discuss any questions regarding the risk/benefits of this drug with your healthcare provider.

Last updated: 7/8/2013

References
  1. Amyotrophic Lateral Sclerosis. Genetics Home Reference Web site. August 2007; http://ghr.nlm.nih.gov/condition=amyotrophiclateralsclerosis. Accessed 2/7/2008.
  2. Donkervoort S, Siddique T. Amyotrophic Lateral Sclerosis. GeneReviews . 2009; http://www.ncbi.nlm.nih.gov/books/NBK1450/. Accessed 4/12/2011.
  3. Orban P, Devon RS, Hayden MR, Leavitt BR. Juvenile Amyotrophic Lateral Sclerosis. Handbook of Clinical Neurology. . 2007;82(3):301-312; http://www.ncbi.nlm.nih.gov/pubmed/18808900. Accessed 7/8/2013.
  4. Rabin BA, Griffin JW, Crain BJ, Scavina M, Chance PF, Cornblath DR. Brain . Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain. 1999;122(8):1539-1550; http://brain.oxfordjournals.org/content/122/8/1539.long. Accessed 7/5/2013.