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Disease Profile
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.
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Age of onset
Childhood
ICD-10
G12.2
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
Amyotrophic lateral sclerosis, juvenile; JALS; Juvenile Charcot disease;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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
JALS includes several subtypes, distinguished by the specific variations (
- 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
There is no specific treatment for JALS. Management generally involves physical and occupational therapy to promote mobility and independence.[1]
Symptoms
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
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 |
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 |
0031960 | |
Brisk reflexes | 0001348 | |
Bulbar signs | 0002483 | |
0003429 | ||
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 |
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 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Gastrostomy tube feeding in infancy | 0011471 | |
Global |
0001263 | |
Head titubation | 0002599 | |
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 |
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 | |
0002650 | ||
Supranuclear gaze palsy | 0000605 | |
Toe walking |
Toe-walking
|
0040083 |
Urinary incontinence |
Loss of bladder control
|
0000020 |
Cause
Genes responsible for amyotrophic lateral sclerosis (ALS) are important for normal functioning of motor neurons and other
Treatment
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.
|
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: [email protected]
Website: https://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: [email protected]
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: [email protected]
Website: https://www.alsa.org
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.
References
- 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/.
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