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Disease Profile

Central pain 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.

Unknown

Age of onset

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ICD-10

#N/A

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)

Thalamic syndrome (former); Dejerine Roussy syndrome (former); Posterior thalamic syndrome (former);

Categories

Nervous System Diseases

Summary

Central pain syndrome (CPS) is a rare neurological disorder caused by damage to or dysfunction of the pain-conducting pathways of the central nervous system (in the brain, brainstem, and spinal cord). Symptoms of CPS can vary greatly from one person to another, partly because the cause may differ. Primary symptoms are pain and loss of sensation, usually in the face, arms, and/or legs. Pain or discomfort may be felt after being touched, or even in the absence of a trigger. The pain may worsen by exposure to heat or cold and by emotional distress.[1] CPS is usually associated with strokemultiple sclerosis, tumorsepilepsy, brain or spinal cord trauma, or Parkinson's disease.[2] Treatment typically includes pain medications, but complete relief of pain may not be possible. Tricyclic antidepressants or anticonvulsants can sometimes be useful. Lowering stress levels appears to reduce pain.[2]

Many different names have been used for this disorder, including Dejerine-Roussy syndrome, thalamic pain syndrome, central post-stroke syndrome and others. The current name acknowledges that damage to various areas of the central nervous system can cause central pain, and that a stroke is not necessarily the cause. When CPS is due to a stroke, it may be referred to as the more specific term "central post-stroke pain."[1]

Symptoms

Central pain syndrome (CPS) often begins shortly after the injury or damage that caused it. However, it may be delayed by months or even years, especially if it is related to post-stroke pain. The characteristics of the pain associated with CPS differ widely, partly because of the variety of potential causes. It may affect a large portion of the body, or be restricted to specific areas such as the hands or feet.

The severity of pain is usually related to the cause of the central nervous system (CNS) injury or damage. Pain is typically constant, may be moderate to severe in intensity, and is often made worse by touch, movement, emotions, and temperature changes (usually cold temperatures).

People with CPS experience one or more types of pain sensations, the most prominent being burning. Mingled with the burning may be sensations of pins and needles, pressing, lacerating, aching, or brief, intolerable bursts of sharp pain. Some people also experience numbness. The burning and loss-of-touch sensations are usually most severe on the distal parts of the body, such as the feet or hands.[2]

Diagnosis

A diagnosis of central pain syndrome (CPS) is based on the characteristic symptoms, a detailed patient history, a thorough clinical exam and a variety of specialized tests. CPS is suspected in people who complain of pain or other abnormal sensations following injury to the central nervous system. Other conditions that cause pain may need to be ruled out before a diagnosis of CPS is made.[1] The clinical exam may include sensory testing to confirm and pinpoint the presence of sensory abnormalities, but also to rule out other causes of pain.[3] Imaging tests such as a CT scan and MRI may be used to see tumors, infarcts, cerebral bleeding, and other lesions that may cause pain. MRI is the preferred technique when CPS is suspected.[1]

Treatment

Treatment of central pain syndrome (CPS) is known to be challenging.[4] The method of treatment may vary depending on the cause of the neurological damage. Pain medications (analgesics) often provide only some relief of pain.[4]

In general, first-line management includes the use of tricyclic antidepressants such as nortriptyline, anticonvulsants such as gabapentin, or topical lidocaine. Second-line management involves the use of opioid analgesics such as tramadol, along with first-line medication. Third-line management may include other antidepressant or anticonvulsant medications.[5] 

Lowering stress levels appears to reduce pain.[2] Other treatment alternatives have included the administration of a sympathetic blockade (a type of nerve block) and a guanethidine block, as well as psychological evaluation and treatment. Rarely, surgery is necessary.[6] Stereotactic radiosurgery of the pituitary has been used with some success.[4] Other forms of potential treatments that have been discussed in the literature include transcutaneous electrical nerve stimulation (TENS); deep brain stimulation; and motor cortex stimulation.[1][7]

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

        • 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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Central pain syndrome. Click on the link to view a sample search on this topic.

          References

          1. Central Pain Syndrome. National Organization for Rare Disorders. 2015; https://rarediseases.org/rare-diseases/central-pain-syndrome/.
          2. NINDS Central Pain Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/disorders/central_pain/central_pain.htm.
          3. Klit H, Finnerup NB, Jensen TS. Central post-stroke pain: clinical characteristics, pathophysiology, and management. Lancet Neurology. 2009; 8:859-868. https://www.ncbi.nlm.nih.gov/pubmed/19679277.
          4. YiLi Zhou. CHAPTER 48 – Principles of Pain Management. Bradley: Neurology in Clinical Practice, 5th ed.[Electronic version]. Deutschland: Butterworth-Heinemann; 2008 ; 905.
          5. Jay GW. Classic Central Pain Syndromes: Review of Neurologic Causes of Pain. Practical Pain Manag. 2015; https://www.practicalpainmanagement.com/classic-central-pain-syndromes-review-neurologic-causes-pain.
          6. Gould R, Barnes SS. Shoulder Pain and Hemiplegia. Medscape. 2015; https://emedicine.medscape.com/article/328793-overview.
          7. Schott GD. From thalamic syndrome to central poststroke pain. Journalof Neurology, Neurosurgery, and Psychiatry. December, 1996; 61(6):560-564. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC486645/pdf/jnnpsyc00012-0002.pdf.

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