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