Mutations may be
There is no specific treatment for JALS. Management generally involves physical and occupational therapy to promote mobility and independence.
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
Cerebellar anomaly[ more ]
Loss of articulate speech
Psychiatric disturbances[ more ]
Abnormality of cognition
Mental impairment[ more ]
Swallowing difficulty[ 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
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 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.
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.
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.
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.
NIH Announces New Transformative Research Award Program for ALS
September 1, 2020
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