Rare Endocrinology News
Disease Profile
Primary 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.
1-9 / 100 000
Age of onset
Elderly
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)
Adult-onset PLS; Adult-onset primary lateral sclerosis
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Primary lateral sclerosis (PLS) is a rare
Symptoms
- Muscle weakness
- Muscle stiffness and
spasticity - Difficulty with balance and clumsiness
- Slowed movement
- Problems with speech
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 | ||
Abnormal upper motor neuron morphology |
Abnormal shape of upper motor neuron
|
0002127 |
Babinski sign | 0003487 | |
Generalized hyperreflexia | 0007034 | |
30%-79% of people have these symptoms | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
EMG: chronic denervation signs | 0003444 | |
Loss of speech | 0002371 | |
Progressive spastic paraparesis | 0007199 | |
Pseudobulbar signs | 0002200 | |
Spastic |
0002464 | |
Spastic gait |
Spastic walk
|
0002064 |
5%-29% of people have these symptoms | ||
Cervical spinal cord atrophy | 0010873 | |
Motor axonal neuropathy | 0007002 | |
Percent of people who have these symptoms is not available through HPO | ||
Adult onset |
Symptoms begin in adulthood
|
0003581 |
0000006 | ||
Hyperreflexia |
Increased reflexes
|
0001347 |
Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
Spastic tetraparesis | 0001285 |
Diagnosis
- Blood work
Magnetic resonance imaging (MRI) of the brain and spine- Motor and sensory nerve conduction studies
- Electromyogram (EMG)
- Cerebrospinal fluid (CSF) analysis
Although a preliminary diagnosis of PLS can be made after other conditions are ruled out, it may take repeated testing over three to four years to confirm the diagnosis.[1]
Treatment
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
-
Motor Neurone Disease Association
PO Box 246
Northampton Intl NN1 2PR
United Kingdom
Telephone: 44 160 4 250505
E-mail: [email protected]
Website: https://www.mndassociation.org -
Spastic Paraplegia Foundation (SPF)
1605 Goularte Place
Fremont, CA 94539-7241
Telephone: 1-877-773-4483
Fax: 1-877-773-4483
E-mail: [email protected]
Website: https://sp-foundation.org/ -
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.
Where to Start
- Mayo Clinic has an information page on Primary lateral sclerosis.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Primary lateral sclerosis. Click on the link to view a sample search on this topic.
References
- Primary lateral sclerosis (PLS). Mayo Clinic. October 2016; https://www.mayoclinic.org/diseases-conditions/primary-lateral-sclerosis/symptoms-causes/dxc-20214456.
- Carmel Armon, MD, MSc, MHS. Primary Lateral Sclerosis. Medscape Reference. December 2015; https://emedicine.medscape.com/article/1171782-overview.
- Primary Lateral Sclerosis Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Primary-Lateral-Sclerosis-Information-Page. Accessed 4/13/2017.
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