Juvenile amyotrophic lateral sclerosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Amyotrophic lateral sclerosis, juvenile; JALS; Juvenile Charcot disease;
Congenital and Genetic Diseases; Nervous System Diseases
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
- 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
Mutations may be
There is no specific treatment for JALS. Management generally involves physical and occupational therapy to promote mobility and independence.
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
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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Amyotrophic lateral sclerosis||0007354|
Distal muscle wasting
|Lower limb spasticity||0002061|
|Upper limb spasticity||
Uncontrollable movement in upper arms
|30%-79% of people have these symptoms|
|Contractures of the joints of the upper limbs||0100360|
|Delayed ability to walk||0031936|
Difficulty in walking
|Distal muscle weakness||
Weakness of outermost muscles
|Inability to walk||0002540|
|Muscle fiber atrophy||
Muscle fiber degeneration
|5%-29% of people have these symptoms|
|Abnormal cerebellum morphology||
Abnormality of the cerebellum
[ more ]
Loss of articulate speech
[ more ]
Abnormality of cognition
[ more ]
[ more ]
|Gastrostomy tube feeding in infancy||0011471|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|Neck flexor weakness||
Neck flexion weakness
Involuntary, rapid, rhythmic eye movements
|Proximal muscle weakness||
Weakness in muscles of upper arms and upper legs
|Supranuclear gaze palsy||0000605|
Loss of bladder control
Genes responsible for amyotrophic lateral sclerosis (ALS) are important for normal functioning of motor neurons and other
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.
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.
Muscular Dystrophy Association ALS Division
3300 East Sunrise Drive
Amyotrophic Lateral Sclerosis
Tucson, AZ 85718-3208
Telephone: 800-572-1717 or 800-344-4863
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.
- 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.
- Bertini E. Juvenile amyotrophic lateral sclerosis. Orphanet. February, 2014; https://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. https://www.ncbi.nlm.nih.gov/pubmed/18808900.
- Amyotrophic Lateral Sclerosis. Genetics Home Reference. March, 2016; https://ghr.nlm.nih.gov/condition=amyotrophiclateralsclerosis.
- Kinsley L, Siddique T. Amyotrophic Lateral Sclerosis Overview. GeneReviews. February 12, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1450/.