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

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

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.

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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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

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Cause Cause

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

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

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

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

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

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

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

News

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

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References References

Bertini E. Juvenile amyotrophic lateral sclerosis. Orphanet. February, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605.
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.
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.
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.
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.
Amyotrophic Lateral Sclerosis. Genetics Home Reference. March, 2016; http://ghr.nlm.nih.gov/condition=amyotrophiclateralsclerosis.
Kinsley L, Siddique T. Amyotrophic Lateral Sclerosis Overview. GeneReviews. February 12, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1450/.