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Disease Profile
Locked-in syndrome
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
All ages
ICD-10
G83.8
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)
Locked in syndrome; Cerebromedullospinal disconnection
Categories
Nervous System Diseases
Summary
Locked-in
There is no cure or specific treatments for locked-in syndrome.[1][4] Supportive therapy for breathing and feeding is very important, especially early on.
Many people with locked-in syndrome do not live beyond the early (acute) stage due to medical complications. However, others may live for another 10-20 years and report a good quality of life despite the severe disabilities caused by the syndrome.[6]
Symptoms
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 | ||
Abnormality of the voice |
Voice abnormality
|
0001608 |
Anarthria |
Loss of articulate speech
|
0002425 |
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Cerebral palsy | 0100021 | |
Diplopia |
Double vision
|
0000651 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Tetraparesis | 0002273 | |
Tetraplegia |
Paralysis of all four limbs
|
0002445 |
30%-79% of people have these symptoms | ||
Excessive salivation |
Mouth watering
Oversalivation
Watery mouth
[ more ] |
0003781 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
5%-29% of people have these symptoms | ||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
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 diagnosis includes coma, vegetative state/unresponsive wakefulness or minimally conscious states.
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
-
Brain Foundation
P O Box 579
Crows Nest, NSW
1585 Suite 21
Regent House 37-43
Alexander Street Crows Nest, NSW 2065
Australia
Telephone: 61 2 9437 5967
Fax: 61 2 9437 5978
E-mail: https://brainfoundation.org.au/contact
Website: https://www.brainfoundation.org.au/ -
National Rehabilitation Information Center
8201 Corporate Drive, Suite 600
Landover, MD 20785
Toll-free: 800-346-2742
Telephone: 301-459-5900
TTY: 301-459-5984
E-mail: [email protected]
Website: https://www.naric.com/ -
National Stroke Association
9707 E Easter Lane
Suite B
Centennial, CO 80112
Telephone: 800-787-6537
Fax: 303-649-1328
E-mail: [email protected]
Website: https://www.stroke.org/
Organizations Providing General Support
-
American Stroke Association
National Center
7272 Greenville Avenue
Dallas, TX 75231
Telephone: 888-478-7653
Website: https://www.strokeassociation.org/ -
Family Caregiver Alliance
785 Market Street
Suite 750
San Francisco, CA 94103
Toll-free: 800-445-8106
Telephone: 415-434-3388
Fax: 415-434-3508
E-mail: [email protected]
Website: https://www.caregiver.org -
National Family Caregivers Association
10400 Connecticut Avenue
Suite 500
Kensington, MD 20895-3944
Toll-free: 800-896-3650
Telephone: 301-942-6430
Fax: 301-942-2302
E-mail: [email protected]
Website: https://www.thefamilycaregiver.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
- 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
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- 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 Locked-in syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Rousseau MC, Baumstarck K, Alessandrini M, Blandin V, Billette de Villemeur T, Auquier P. Quality of life in patients with locked-in syndrome: Evolution over a 6-year period. Orphanet J Rare Dis. 2015 Jul 19;10:88.
- Chisholm N, Gillett G. The patient's journey: living with locked-in syndrome. BMJ. 2005 Jul 9;331(7508):94-7.
- Smith E, Delargy M. Locked-in syndrome. BMJ. 2005 Feb 19;330(7488):406-9.
- Santosh C. Locked-in syndrome. J Neurol Neurosurg Psychiatry. 2001 Sep;71 Suppl 1:i2. You will need to register to view the article, but registration is free.
- Gawryluk JR, D'Arcy RC, Connolly JF, Weaver DF. Improving the clinical assessment of consciousness with advances in electrophysiological and neuroimaging techniques. BMC Neurol. 2010 Jan 29;10:11.
- Plotkin A, Sela L, Weissbrod A, Kahana R, Haviv L, Yeshurun Y, Soroker N, Sobel N. Sniffing enables communication and environmental control for the severely disabled. Proc Natl Acad Sci U S A. 2010 Jul 26.
References
- Locked-In Syndrome Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Locked-Syndrome-Information-Page. Accessed 2/1/2017.
- Bruno MA, Laureys S. Locked-in syndrome. Orphanet. December 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406.
- Rousseau MC, Baumstarck K, Allessandrini M, Blandin V, Billette de Villemeur T, Auquier P. Quality of life in patients with locked-in syndrome: Evolution over a 6-year period. Orphanet J Rare Dis. 2015; 10:88. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506615/.
- Maiese K. Locked-in Syndrome. Merck Manual Professional Version. April 2016; https://www.merckmanuals.com/professional/neurologic-disorders/coma-and-impaired-consciousness/locked-in-syndrome.
- Pistoia F, Carolei A. The Role of Neuroimaging in the Diagnosis, Prognosis and Management of Disorders of Consciousness and Locked-in Syndrome. Open Neuroimag J. 2016; 10:20-22. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894861/.
- Kolic Z, Kukuljan M, Vukas D, Bonifacic D, Vrbanec K, Franic IK. Locked-in syndrome in a patient with acute obstructive hydrocephalus, caused by large unruptured aneurysm of the basilar artery (BA).. Br J Neurosurg. 2016 Sept 15; 1-3. https://www.ncbi.nlm.nih.gov/pubmed/27633006.
- Hocker S, Wijdicks EF. Recovery From Locked-in Syndrome. JAMA Neurol. 2015 Jul; 72(7):832-3. https://www.ncbi.nlm.nih.gov/pubmed/26167898.