Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
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Neuralgic amyotrophy--also known as Parsonage-Turner syndrome or brachial plexus neuritis--is a distinct and painful peripheral neuropathy that causes episodes of multifocal paresis and sensory loss in a brachial plexus distribution with concomitant involvement of other PNS structures (such as the lumbosacral plexus or phrenic nerve) in a large number of patients. The phenotype can be limited or extensive and the amount of disability experienced also varies between patients, but many are left with residual disabilities that affect their ability to work and their everyday life. Both idiopathic and hereditary forms exist. The latter form is genetically heterogeneous, but in 55% of affected families, neuralgic amyotrophy is associated with a point mutation or duplication in the SEPT9 gene on chromosome 17q25. The disease is thought to result from an underlying genetic predisposition, a susceptibility to mechanical injury of the brachial plexus (possibly representing disturbance of the epineurial blood-nerve barrier), and an immune or autoimmune trigger for the attacks. The precise pathophysiological mechanisms are still unclear; treatment is empirical, and preventive measures are not yet available. This Review provides an overview of the current clinical and pathophysiological concepts and research topics in neuralgic amyotrophy.
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PMID:Clinical and pathophysiological concepts of neuralgic amyotrophy. 2155 32

Parsonage-Turner syndrome (PTS) is a distinct clinical syndrome, characterized by acute and severe (mostly) unilateral shoulder pain, followed by paresis and atrophy of the shoulder girdle, while the pain decreases. Most authors consider it as an immune-mediated disorder. PTS is notoriously unrecognised and is usually diagnosed with delay. A PTS may also occur following a surgical procedure. Postsurgical PTS is an under-recognised and challenging clinical entity, as illustrated in the case reported here of a 59-year-old man, 4 weeks after anterior discectomy and fusion C5C7. In such cases, the differential diagnosis must be made with a complication of surgery, such as postoperative C5 palsy due for instance to a migrated bone graft. Arguments for PTS are: a certain delay between surgery and symptoms, intolerable pain followed by weakness and improvement of pain complaints, divergent distribution of weakness, sensory deficit and pain, which may be confirmed by electrodiagnosis. Early recognition of postsurgical PTS may avoid unnecessary investigations or surgical exploration. It allows to treat the patient properly, leading to greater satisfaction of both surgeon and patient; pain management, physical therapy and reassurance are the cornerstones.
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PMID:Postsurgical Parsonage-Turner syndrome: a challenging diagnosis. 2354 10

Neuralgic amyotrophy (NA, also known as Parsonage-Turner syndrome) is a distinct peripheral nervous system (PNS) disorder, characterized by sudden attacks of severe neuropathic pain usually in the shoulder and/or arm. The neuralgia commonly disappears after a few days to weeks, and consequently patchy paresis with amyotrophy appears. The available evidence suggests that NA is essentially idiopathic immune-mediated neuritis of the brachial plexus, and also has a complex pathogenesis that includes an underlying predisposition, susceptibility to dysfunction of some PNS structure, and a trigger for the attacks, such as viral infection, vaccination, trauma, surgery, and strenuous exercise. Genetic factors also contribute to the pathogenesis of NA, and thus, this disorder occurs in both idiopathic and hereditary forms, but hereditary one is considered to be 10 times less common than idiopathic one. NA has been considered to be self-limiting, benign disorder showing good recovery without specific treatments. However, recent studies have indicated that the long-term prognosis of NA is less favorable than has been assumed. In 2009, a Cochrane review identified one open label, retrospective series, the results of which suggested that administration of corticosteroids in the acute phase of NA could shorten the duration of painful symptoms and also accelerate recovery in some patients. We recently have reported that intravenous immunoglobulin (IVIg) with methylpredonisolone pulse therapy is effective for motor impairment of NA.
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PMID:[Pathogenesis and treatment of brachial plexus neuritis]. 2429 49

We report the case of a 49-years-old patient who presented to the accident and emergency department with sudden onset dyspnea associated with acute shoulder pain. He was breathless at rest with supine hypoxemia. He had an amyotrophic left shoulder with localized paresis of the shoulder. Both hemi-diaphragms were elevated on chest X-rays. Pulmonary function tests showed a restrictive pattern and both phrenic nerve conduction velocities were decreased. At night, alveolar hypoventilation was evidenced by elevated mean capnography (PtcCO2: 57mmHg). Neuralgic amyotrophy, Parsonage-Turner syndrome was the final diagnosis. This syndrome is a brachial plexus neuritis with a predilection for the suprascapular and axillary nerves. Phrenic nerve involvement is rare but where present can be the most prominent clinical feature as in our case report.
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PMID:[Bilateral diaphragmatic paralysis due to Parsonage-Turner syndrome]. 2553 71

Brachioradial pruritus is a chronic sensory neuropathy of unknown etiology which affects the skin of the shoulders, arms and forearms on the insertion of the brachioradialis muscle. We describe the case of a 60-year old woman recently diagnosed with multiple myeloma who refers paresis, severe pruritus and itching lesions on the right arm with 6 months of evolution. Investigation led to a diagnosis of Brachioradial pruritus consequent to the presence of cervical disc herniation and Parsonage-Turner syndrome. The patient started gabapentin 900 mg/day with good control of itching. Corticosteroids and antihistamines are often ineffective in the treatment of BP. Gabapentin has been used with encouraging results. All patients with Brachioradial pruritus should be evaluated for cervical spine injuries.
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PMID:Brachioradial pruritus in a patient with cervical disc herniation and Parsonage-Turner syndrome. 2613 74

We report a 59-year-old male who, three weeks after a coronary revascularization surgery, reported a sudden intense burning pain in his left upper limb. Two weeks later, he reports a paresis with difficulty to extend his left wrist and fingers. The electromyography showed a severe axonal damage of the radial nerve with distal denervation signs. This clinical picture probably corresponds to a neuralgic amyotrophy, an inflammatory disorder of the brachial plexus known by a number of terms, including Parsonage-Turner syndrome.
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PMID:[Parsonage-Turner syndrome. Report of one case]. 3218 43

Neuralgic amyotrophy (NA), also known as Parsonage-Turner syndrome, is characterised by sudden pain attacks, followed by patchy muscle paresis in the upper extremity. Recent reports have shown that incidence is much higher than previously assumed and that the majority of patients never achieve full recovery. Traditionally, the diagnosis was mainly based on clinical observations and treatment options were confined to application of corticosteroids and symptomatic management, without proven positive effects on long-term outcomes. These views, however, have been challenged in the last years. Improved imaging methods in MRI and high-resolution ultrasound have led to the identification of structural peripheral nerve pathologies in NA, most notably hourglass-like constrictions. These pathognomonic findings have paved the way for more accurate diagnosis through high-resolution imaging. Furthermore, surgery has shown to improve clinical outcomes in such cases, indicating the viability of peripheral nerve surgery as a valuable treatment option in NA. In this review, we present an update on the current knowledge on this disease, including pathophysiology and clinical presentation, moving on to diagnostic and treatment paradigms with a focus on recent radiological findings and surgical reports. Finally, we present a surgical treatment algorithm to support clinical decision making, with the aim to encourage translation into day-to-day practice.
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PMID:Neuralgic amyotrophy: a paradigm shift in diagnosis and treatment. 3248 26

Introduction The hepatitis E virus (HEV) is the leading cause of acute hepatitis around the world. In recent years, knowledge has increased concerning extrahepatic manifestations caused by HEV, including neurological manifestations such as Parsonage-Turner syndrome (PTS). PTS is characterized by severe shoulder or arm pain and patchy paresis with muscle weakness. The aim of the present study was to assess the association between HEV and PTS. Materials and Methods We reported two cases of PTS associated with HEV, which were diagnosed in a short period of time in the same village. PTS was diagnosed by physical examination and electrophysiological studies, and serology testing for IgM, low-avidity IgG, and RNA of HEV established the diagnosis of acute HEV infection. Results A 44-year-old man who presented cervicobrachial pain accompanied by paresthesia, dyspnea, and isolated derangement of liver enzymes and 57-year-old women with cervical pain radiated to upper limbs, paresthesia, and liver cytolysis, although, this patient was initially diagnosed as having drug-induced hepatitis. Finally, the diagnosis was Parsonage- Turner syndrome associated with hepatitis e virus. In both patients, symptoms were bilateral and they required hospital admission. Both consumed vegetables are grown in a local patch and the phylogenetic analysis showed genotype 3f. Then, we reviewed the literature on PTS and HEV and we found 62 previously described cases that were more likely to be men (86.20 %) with more frequent bilateral symptoms (85.71 %). Genotype 3 is the most commonly associated. Three of those cases were diagnosed in Spain. Conclusions According to our findings, HEV should be considered in patients with neuralgic amyotrophy, including those with the absence of liver cytolysis.
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PMID:Parsonage-Turner syndrome associated with hepatitis E infection in immunocompetent patients. 3300 43