Locked-in syndrome

Información en español Title

Other Names:

Locked in syndrome; Cerebromedullospinal disconnection

Categories:

Nervous System Diseases

Summary Summary

Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles, except for those that control the eyes.^[1]^[2]^[3]^[4] People with locked-in syndrome are conscious and can think and reason, but are unable to speak or move. Vertical eye movements and blinking can be used to communicate.^[1]^[2]^[4]^[5]^[6] Locked-in syndrome may be caused by brain stem stroke, traumatic brain injury, tumors, diseases of the circulatory system (bleeding), diseases that destroy the myelin sheath surrounding nerve cells (like multiple sclerosis), infection, or medication overdose.^[1]^[2]^[6]

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. Physical therapy, comfort care, nutritional support, and prevention of systemic complications such as respiratory infections are the mainstay of treatment.^[3]^[4] While partial recovery of muscle control is possible, it is somewhat dependent on the cause.^[4] Speech therapists can help people with locked-in syndrome communicate more clearly with eye movements and blinking. However, electronic communication devices, including patient-computer interfaces such as infrared eye movement sensors and computer voice prosthetics, are allowing people with locked-in syndrome to communicate more freely and have access to the internet.^[2]^[3] Motorized wheelchairs have also increased independence.^[7]

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]

Last updated: 2/1/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the voice	Very frequent (present in 80%-99% of cases)
Anarthria	Very frequent (present in 80%-99% of cases)
Behavioral abnormality	Very frequent (present in 80%-99% of cases)
Cerebral palsy	Very frequent (present in 80%-99% of cases)
Diplopia	Very frequent (present in 80%-99% of cases)
Respiratory insufficiency	Very frequent (present in 80%-99% of cases)
Spasticity	Very frequent (present in 80%-99% of cases)
Tetraparesis	Very frequent (present in 80%-99% of cases)
Tetraplegia	Very frequent (present in 80%-99% of cases)
Excessive salivation	Frequent (present in 30%-79% of cases)
Feeding difficulties	Frequent (present in 30%-79% of cases)
Recurrent respiratory infections	Frequent (present in 30%-79% of cases)
Hearing impairment	Occasional (present in 5%-29% of cases)

Last updated: 9/1/2017

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Research Research

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Locked-in syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

American Stroke Association
National Center
7272 Greenville Avenue
Dallas, TX 75231
Telephone: 888-478-7653
Website: http://www.strokeassociation.org/
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: http://brainfoundation.org.au/contact
Website: http://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: naricinfo@heitechservices.com
Website: http://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: Info@stroke.org
Website: http://www.stroke.org/

Organizations Providing General Support

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: info@caregiver.org
Website: http://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: info@thefamilycaregiver.org
Website: http://www.thefamilycaregiver.org

Do you know of an organization? Send us your suggestions.

Learn More 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.

News & Events News & Events

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References 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; http://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; http://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.