Rare Pulmonology News

Disease Profile

Locked-in syndrome

Prevalence
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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

All ages

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Locked in syndrome; Cerebromedullospinal disconnection

Categories

Nervous System Diseases

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]

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
Spasticity
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

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

    Organizations Providing General Support

      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

        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

            References

            1. 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.
            2. Bruno MA, Laureys S. Locked-in syndrome. Orphanet. December 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406.
            3. 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/.
            4. 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.
            5. 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/.
            6. 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.
            7. 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.