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Disease Profile

Parsonage Turner 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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Adult

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ICD-10

G54.5

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.

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)

Acute brachial neuritis; Acute brachial neuritis syndrome; Acute brachial radiculitis syndrome;

Categories

Nervous System Diseases

Summary

Parsonage Turner syndrome (PTS) is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. The pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in this syndrome is called the brachial plexus and it controls movement and sensation in the shoulders and arms. The cause is still unknown (idiopathic). However, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. Suspected triggers include viral and bacterial infections, surgery, vaccinations, injury, childbirth, strenuous exercise, certain medical procedures, and various health conditions. Treatment is symptomatic and may include pain relievers, corticosteroids and physical therapy.[1][2]

PTS is one of two forms of neuralgic amyotrophy. The other form is hereditary and is caused by mutations in the SEPT9 gene in about 85% of cases.

Symptoms

Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp, aching, burning, stabbing, or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. Rarely, both sides of the body are involved. Affected people typically experience constant pain that may become worse with movement. Intense pain can last from a few hours to several weeks, at which point the pain usually begins to subside. However, mild pain may continue for a year or longer.[1][2] As the pain subsides, it typically is replaced by progressive weakness of the affected area, ranging from mild weakness to nearly complete paralysis. There may also be muscle wasting (atrophy), absent or reduced reflexes, or loss of sensation.[1][2]

In some cases, nerves and muscles outside of the shoulder and upper arm region are affected, such as the lumbosacral plexus (causing symptoms in the legs) or phrenic nerve (affecting the diaphragm).[3]

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
Arthralgia
Joint pain
0002829
EMG abnormality
0003457
Muscle weakness
Muscular weakness
0001324
Polyneuropathy
Peripheral nerve disease
0001271
30%-79% of people have these symptoms
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Scapular winging
Winged shoulder blade
0003691
Sprengel anomaly
High shoulder blade
0000912
5%-29% of people have these symptoms
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
0001063
Cleft palate
Cleft roof of mouth
0000175
Narrow mouth
Small mouth
0000160
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Respiratory insufficiency
Respiratory impairment
0002093
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Short stature
Decreased body height
Small stature

[ more ]

0004322
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360

Cause

The exact cause of Parsonage Turner syndrome is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to trigger some cases include:[1][2]

  • Infections (both viral and bacterial)
  • Surgery
  • Vaccinations
  • Childbirth
  • Certain medical procedures, such as a spinal tap or imaging studies that require administration of radiologic dye
  • Strenuous exercise
  • Certain medical conditions, including connective tissue disorders and autoimmune disorders
  • Injury

Some researchers believe that Parsonage Turner syndrome is a multifactorial condition, which means that it is caused by an interaction between environmental and genetic factors. In this case, a person may have a genetic susceptibility to PTS due to one or more genes, but won't develop the condition unless they are exposed to certain environmental triggers (such as one or more of those listed above).[1][2]

Diagnosis

A diagnosis of Parsonage Turner syndrome often is suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness, and to rule out other conditions that can cause similar features. These tests may include nerve conduction studies (tests that determine the ability of a specific nerve to relay a message to the brain), electromyography, magnetic resonance imaging (MRI scan), and/or an X-ray.[1][2]

Treatment

Treatment for Parsonage Turner syndrome (PTS) is focused on managing the signs and symptoms in each person. This may include imaging studies (such as MRI or high-resolution ultrasound) to identify any nerves that remain constricted or compressed. If compressed nerves are found, then surgery to de-compress the nerve may be an option. If nerve compression is ruled out, initial treatment involves pain control and physical and occupational therapy.[4][5]

Pain medications may be prescribed depending on the severity of the nerve pain. After the acute phase, different medications known as co-analgesics may be administered. These include gabapentin, carbamazepine, and amitriptyline. These drugs specifically treat nerve pain. Other techniques for pain management include application of heat or cold, and transcutaneous electrical nerve stimulation, a method of pain relief in which a special device transmits low-voltage electrical impulses through electrodes on the skin to an area of the body that is in pain.[1][2]

PTS symptoms may get better with time. However, it is not uncommon for some symptoms to persist. These symptoms are best treated by rehabilitation centers.[6] Surgeries such as nerve grafting or tendon transfer to restore movement and function to the shoulder muscles and joint may be considered if other treatment options are not effective.[1][2]

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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • 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.
        • 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 Parsonage Turner syndrome. Click on the link to view a sample search on this topic.

          References

          1. Parsonage Turner syndrome. NORD. Updated 2020; https://rarediseases.org/rare-diseases/parsonage-turner-syndrome/.
          2. Nigel L Ashworth. Brachial Neuritis. Medscape Reference. January 18, 2017; https://emedicine.medscape.com/article/315811-overview.
          3. Neuralgic amyotrophy. Orphanet. January 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2901.
          4. Joaquim AF, Makhni MC, Riew KD. Post-operative nerve injuries after cervical spine surgery. Int Orthop. Apr 2019; 43(4):791-795. https://pubmed.ncbi.nlm.nih.gov/30498911/.
          5. Gstoettner C, Mayer JA, Rassam S, Hruby LA, Salminger S, Sturma A, Aman M, Harhaus L, Platzgummer H, Aszmann OC. Neuralgic amyotrophy a paradigm shift in diagnosis and treatment. J Neurol Neurosurg Psychiatry. Aug 2020; 91(8):879-888. https://pubmed.ncbi.nlm.nih.gov/32487526/.
          6. Van Eijk JJ, Groothuis JT, Van Alfen N. Neuralgic amyotrophy: An update on diagnosis, pathophysiology, and treatment. Muscle Nerve. Mar 2016; 53(3):337-50. https://pubmed.ncbi.nlm.nih.gov/26662794/.

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