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Juvenile amyotrophic lateral sclerosis


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Other Names:
Amyotrophic lateral sclerosis, juvenile; JALS; Juvenile Charcot disease; Amyotrophic lateral sclerosis, juvenile; JALS; Juvenile Charcot disease; Juvenile Lou Gehrig disease See More
Categories:
Congenital and Genetic Diseases; Nervous System Diseases
Subtypes:
Amyotrophic lateral sclerosis type 10; Amyotrophic lateral sclerosis type 2; Amyotrophic lateral sclerosis type 4; Amyotrophic lateral sclerosis type 10; Amyotrophic lateral sclerosis type 2; Amyotrophic lateral sclerosis type 4; Amyotrophic lateral sclerosis type 5; Amyotrophic lateral sclerosis type 6 See More
This disease is grouped under:
Amyotrophic lateral sclerosis

Summary Summary


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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.[1] Symptoms of JALS typically begin before age 25, but often in early childhood.[1][2] 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.[1] The disease is usually slowly progressive but rate of progression varies.[2] People with JALS may become unable to move by age 12 to age 50.[1]

JALS includes several subtypes, distinguished by the specific variations (mutations) in any of several genes, including:[1][2]
  • 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.[1][2][3][4]

Mutations may be inherited from a parent or may occur for the first time in a person with the disease.[2] Inheritance may be autosomal recessive or autosomal dominant depending on the gene involved.[1][2]

There is no specific treatment for JALS. Management generally involves physical and occupational therapy to promote mobility and independence.[1]

Last updated: 5/24/2018

Symptoms Symptoms


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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.[5]

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.[5] 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.[1] Cognitive function is not affected.[5] The disease is usually slowly progressive but the rate of progression varies.[2] People with JALS may become unable to move by age 12 to age 50.[1]
Last updated: 5/11/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 41 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Amyotrophic lateral sclerosis 0007354
Distal amyotrophy
Distal muscle wasting
0003693
Lower limb spasticity 0002061
Upper limb spasticity
Uncontrollable movement in upper arms
0006986
30%-79% of people have these symptoms
Arm dystonia 0031960
Brisk reflexes 0001348
Bulbar signs 0002483
CNS hypomyelination 0003429
Contractures of the joints of the lower limbs 0005750
Contractures of the joints of the upper limbs 0100360
Delayed ability to walk 0031936
Difficulty walking
Difficulty in walking
0002355
Distal muscle weakness
Weakness of outermost muscles
0002460
Inability to walk 0002540
Muscle fiber atrophy
Muscle fiber degeneration
0100295
Spastic diplegia 0001264
5%-29% of people have these symptoms
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ]
0001317
Anarthria
Loss of articulate speech
0002425
Ataxia 0001251
Axial dystonia 0002530
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
0000708
Cachexia
Wasting syndrome
0004326
Chorea 0002072
Clonus 0002169
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
0100543
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Gastrostomy tube feeding in infancy 0011471
Global developmental delay 0001263
Head titubation 0002599
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Neck flexor weakness
Neck flexion weakness
0003722
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Opisthotonus 0002179
Oromandibular dystonia 0012048
Parkinsonism 0001300
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Retrocollis 0002544
Scoliosis 0002650
Supranuclear gaze palsy 0000605
Toe walking
Toe-walking
0040083
Urinary incontinence
Loss of bladder control
0000020
Showing of 41 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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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.[1][2] Mutations bay be inherited from a parent or occur for the first time in a person with the disease.[2] Inheritance may be autosomal recessive or autosomal dominant depending on the gene involved.[1][2]

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.[6]
Last updated: 5/11/2017

Treatment Treatment


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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.[1] 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.[7]

 

Last updated: 5/11/2017

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include juvenile primary lateral sclerosis and, to a lesser extent, infantile-onset ascending hereditary spastic paralysis (see these terms).
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • The Clinical Research in Amyotrophic Lateral Sclerosis and Related Disorders for Therapeutic Development (CREATE) Consortium is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research involving sporadic and familial forms of amyotrophic lateral sclerosis, frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and progressive muscular atrophy (PMA). The CREATE Consortium has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the research projects.

    For more information on the registry see: https://www.rarediseasesnetwork.org/registry/index.htm

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Amyotrophic Lateral Sclerosis Society of Canada
    265 Yorkland Boulevard
    Suite 300
    Toronto Ontario M2J 1S5
    Canada
    Telephone: 800-267-4ALS (800-267-4257)
    Fax: 416-497-1256
    E-mail: SI@als.ca
    Website: http://www.als.ca
  • Muscular Dystrophy Association - ALS Division
    3300 East Sunrise Drive
    Amyotrophic Lateral Sclerosis
    Tucson, AZ 85718-3208
    Telephone: 800-572-1717 or 800-344-4863
    Fax: 520-529-5300
    E-mail: mda@mdausa.org
    Website: https://www.mda.org/disease/amyotrophic-lateral-sclerosis
  • The ALS Association
    1275 K Street, N.W.
    Suite 250
    Washington, DC, 20005
    Toll-free: 1-800-782-4747
    Telephone: 202-407-8580
    Fax: 202-464-8869
    E-mail: alsinfo@alsa-national.org
    Website: http://www.alsa.org
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • Patient Services, Inc (PSI) provides financial support and guidance for qualified patients with specific chronic diseases. PSI helps patients find solutions to the social and economic problems confronting patients with chronic conditions.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Juvenile amyotrophic lateral sclerosis. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • NIH Announces New Transformative Research Award Program for ALS
    September 1, 2020

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Bertini E. Juvenile amyotrophic lateral sclerosis. Orphanet. February, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605.
  2. Liu ZJ, Lin HX, Liu GL, Tao QQ, Ni W, Xiao BG, Wu ZY. The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis. Clin Genet. April, 2017; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28429524.
  3. Zou ZY, Cui LY, Sun Q, Li XG, Liu MS, Xu Y, Zhou Y & Yang XZ. De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. Neurobiol Aging. April, 2013; 34(4):1312.e1-8. https://www.ncbi.nlm.nih.gov/pubmed/23046859.
  4. Teyssou E, Chartier L, Amador MD & cols. Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. Neurobiol Aging. October, 2017; 58:239.e11-239.e20. https://www.ncbi.nlm.nih.gov/pubmed/28716533.
  5. Orban P, Devon RS, Hayden MR, Leavitt BR. Juvenile Amyotrophic Lateral Sclerosis. Handbook of Clinical Neurology. Elsevier; 2007; 82(3):301-312. http://www.ncbi.nlm.nih.gov/pubmed/18808900.
  6. Amyotrophic Lateral Sclerosis. Genetics Home Reference. March, 2016; http://ghr.nlm.nih.gov/condition=amyotrophiclateralsclerosis.
  7. Kinsley L, Siddique T. Amyotrophic Lateral Sclerosis Overview. GeneReviews. February 12, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1450/.
Do you know of a review article? We want to hear from you.
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You can help advance rare disease research!
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