It is important to differentiate the symptoms of FMS from other conditions that may present as abdominal pain and fever. [clevelandclinicmeded.com]

Acronym FEPS2 Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

[…] should be suspected in patients who present with monocular diplopia, especially if the ocular funduscopic examination is normal. 35 The final pseudoneuro-ophthalmologic presentation is ptosis. [aafp.org]

Renowned researchers from around the world introduce the technical aspects of ion channel research, provide a modern guide to the properties of major ion channels, and present powerful methods for modeling ion channel diseases and performing clinical [books.google.com]

Presentations of recurrent abdominal pain in children [ 5, 6 ] Several symptom groups are seen in childhood RAP, allowing classification into commonly occurring presentations. [patient.info]

• Episodic Pain

  Entry H01391 Disease Name Familial episodic pain syndrome Description Familial episodic pain syndrome (FEPS) is an autosomal dominant neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities [genome.jp]

  Orpha Number: 391384 Disease definition Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in [rarediseases.info.nih.gov]

  ] 38,752,313(+) GAGGA(A/G)GAGGG intron-variant, reference, missense rs142173735 Pathogenic, Episodic pain syndrome, familial, 2 (FEPS2) [MIM:615551] 38,712,340(+) CCCTG(A/C/T)GAAGA reference, missense rs138413438 Likely benign 38,726,721(+) CAGTC(A/G) [genecards.org]

  A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet 2013;45(11):1399–8211 2 Zhang XY, Wen J, Yang W, et al. Gain-of-function mutations in SCN11A cause familial episodic pain. Am J Hum Genet 2013;93(5):957-966 [thieme-connect.com]

  < Back to Article Fig 2 Genome-wide linkage analysis in two Japanese familial episodic pain syndrome families. [journals.plos.org]

• Surgical Procedure

  Pain intensity on the first day after surgery: a prospective cohort study comparing 179 surgical procedures. Anesthesiology 2013;118:934–44. [34]. Juul RV, Rasmussen S, Kreilgaard M, et al. [journals.lww.com]

  Fractures are the precipitating event in about 5–14 % of cases and surgical procedures in 10–15 % [ 14 ]. Psychological factors Stress has an important role in inducing or perpetuating CRPS. [ped-rheum.biomedcentral.com]

• Failure to Thrive

  At her first presentation, she showed gastrointestinal problems with failure to thrive, enhanced sweating, hyperkinetic movement disorder, and muscle hypotonia. [thieme-connect.com]

  […] to thrive Abdominal bloating, diarrhea, and often steatorrhea Symptoms that worsen when gluten-containing products are ingested Serologic markers Small-bowel biopsy Chronic appendicitis Several previous discrete episodes of RLQ pain Abdominal CT Ultrasonography [merckmanuals.com]

  Diarrhea and failure to thrive are sometimes related to malabsorption. Irritable Bowel Syndrome (IBS) is a common problem among the general population. Chronic constipation alternating with diarrhea can occur. [mitoaction.org]

  […] to thrive-microcephaly due to ASXL3 deficiency syndrome Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-poor language-strabismus-grimacing [se-atlas.de]

• Photophobia

  Photophobia is a common affliction of migraine patients, but the mechanism via which light exacerbates migraine pain has been enigmatic. [jci.org]

  Migraine headaches may be dull or throbbing, may last for 4 to 72 hours and may/may not present with photophobia (sensitivity to light), phonophobia (sensitivity to sound), and may be aggravated by physical activity. [physio-pedia.com]

  Photophobia I have photophobia that ranges from moderate to severe. [inthefringes.wordpress.com]

  The pain is associated with two or more of: anorexia, nausea, vomiting, headache, photophobia, pallor. After appropriate medical evaluation the symptoms cannot be attributed to another medical condition. [patient.info]

• Visual Impairment

  impairment-urinary anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase [se-atlas.de]

• Myopathy

  Distal myopathy with anterior tibial onset Distal myopathy with early respiratory muscle involvement Distal myopathy with posterior leg and anterior hand involvement Distal myopathy, Welander type Distal myotilinopathy Distal nebulin myopathy Distal [se-atlas.de]

  ZASP related Myopathy Myopathy due to Muscle Phosphoglycerate Mutase Deficiency Myopathy, Desmin related Myopathy, Distal, with Rimmed Vacuoles Myopathy, Early-onset and Progeria Myopathy, Mitochondrial, Late-onset Myopathy, Mitochondrial, with Diabetes [sequencing.com]

  […] deficiency Addison disease Adie Syndrome Adiposis dolorosa ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Adrenal incidentaloma Adult hepatocellular carcinoma Adult idiopathic neutropenia Adult-onset distal myopathy [sanfordresearch.org]

  GENERALIZED IDIOPATHIC EPILEPSY, TYPE 9 Clcn5 (N237/24) DENT DISEASE TYPE 1 NEPHROLITHIASIS, X-LINKED RECESSIVE HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS Contactin (K73/20) MYOPATHY [neuromab.ucdavis.edu]

• Euphoria

  This may include hyper- or hyposexuality, depression, euphoria, marked increased or decreased appetite, and extreme fatigue or high energy. Allodynia secondary to central sensitization is not uncommon. [practicalpainmanagement.com]

• Pelvic Pain

  Comprehensive pelvic floor physical therapy program for men with idiopathic chronic pelvic pain syndrome: a prospective study. Transl Androl Urol. 2017 Oct. 6 (5):910-5. [Medline]. [Full Text]. [emedicine.medscape.com]

  pelvic pain, diabetic peripheral neuropathy 10 IL13 interleukin 13 5 131,993,864: 131,996,800 anti-inflammatory cytokine breast pain in women with breast cancer 1 IL16 interleukin 16 (lymphocyte chemoattractant factor) 15 81,489,219: 81,605,101 stimulates [painresearchforum.org]

• Seizure

  An anoxic seizure identical to that seen in reflex anoxic seizures may occur. [epilepsydiagnosis.org]

  […] of the epileptic seizure in 96 percent of generalized tonic-clonic seizures and 60 percent of complex partial seizures without generalization. [aafp.org]

  PLUS, TYPE 2 SEVERE MYOCLONIC EPILEPSY OF INFANCY FAMILIAL HEMIPLEGIC MIGRAINE, TYPE 3 INTRACTABLE CHILDHOOD EPILEPSY, WITH GENERALIZED TONIC-CLONIC SEIZURES FAMILIAL FEBRILE CONVULSIONS, TYPE 3A Nav1.2 (K69/3) FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE [neuromab.ucdavis.edu]

  Gain-of-function mutations in SCN1A have been linked to childhood epilepsy or generalized epilepsy with febrile seizures, and childhood seizures have been reported in some affected individuals in families with FHM3 ( 53 ). [jci.org]

  Benign hereditary chorea Benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile seizures associated with mild gastroenteritis Benign nocturnal alternating hemiplegia of childhood Benign non-familial infantile seizures [se-atlas.de]

• Stroke

  The syndrome can be caused by a stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or Parkinson's disease. [qualityhealth.com]

  However, because the absolute risk of stroke is low in patients with migraine with aura, and migraine without aura is likely not associated with ischemic stroke, most migraine patients will not experience a stroke event.. [6] According to large series [physio-pedia.com]

  […] plasma α-Gal A activity Deletions/Insertions: 15% Splice site mutations: 5% Specific mutations Most families have private mutation Taiwan Mutation: IVS4+919G>A Frequency: 1:875 male & 1:399 female live births Phenotype: Mild Incidence Higher: Young stroke [neuromuscular.wustl.edu]

  […] symptoms during the aura phase, I don’t worry about a stroke risk and feel that at this point in my life, it is no longer a particularly significant risk factor for me. [inthefringes.wordpress.com]

  […] dysfunction Temporalis tendonitis Sinusitis Atypical facial pain Trigeminal neuralgia Glossopharyngeal neuralgia Nervus intermedius neuralgia Sphenopalatine neuralgia Referred dental or temporomandibular joint pain Abdominal epilepsy Abdominal migraine Stroke [emedicine.medscape.com]

• Paresis

  Patients with pseudoparalysis have equal weakness of both agonist and antagonist muscles, whereas true paresis affects the extensor muscles more than the flexors. [aafp.org]

  Delayed gastric emptying and gastric paresis are related problems that often affect Mito patients as well. [mitoaction.org]

  Androgen (DHEA) Secretion Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II Deficiency of Factor XIII, A Subunit Dejerine-Sottas Neuropathy Delayed Sleep Phase Syndrome Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis [sequencing.com]

• Somnolence

  3 Epidemiology Andean natives living at high altitude Sex & Age predominance: Males; Ages 20 to 50 years Occupation: Miners in Cerro de Pasco, Peru Clinical General: Malaise; Depression Headaches (Migraine-like) (100%) Dizziness (50%) Fatiguability; Somnolence [neuromuscular.wustl.edu]

• Neurologic Manifestation

  Manifestations Signs and Symptoms Peripheral Vascular Diseases Vascular Diseases Cardiovascular Diseases Pathologic Processes Nervous System Malformations Nervous System Diseases Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases [clinicaltrials.gov]

Imaging studies, including with radiography, magnetic resonance imaging (MRI), and computed tomography (CT) scanning, are important tools in the workup of patients with CPS. [emedicine.medscape.com]

Usually, no further diagnostic evaluations are needed if there are no abnormal findings in the initial diagnostic workup. [ped-rheum.biomedcentral.com]

The use of this treatment modality has been described in the literature with regards to pediatric CRPS treatment [ 5, 9, 84 – 86 ]. [ped-rheum.biomedcentral.com]

What are the treatments for TRAPS? There is still no proven definitive treatment to prevent or cure the disease. [my.clevelandclinic.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment manuals incorporating home training led to nearly 20% higher treatment effects for headache reduction. [27] EmbedVideo was given an illegal value for the alignment parameter "Neurofeedback for migraine headache treatment". [physio-pedia.com]

Arcalyst (Rilonacept) by Regeneron Pharmaceuticals, an interleukin-1 blocker, was approved by the FDA in 2008 for the treatment of CAPS, including FCAS and MWS, in adults and children 12 and older. [rarediseases.org]

Other reports concluded that the prognosis of pediatric CRPS is not as favorable as reported [ 87, 88 ]. [ped-rheum.biomedcentral.com]

The events appear very frightening for carers but have a good prognosis. When reflex anoxic seizures are very frequent, atropine or cardiac pacing may be considered. [epilepsydiagnosis.org]

Prognosis Some children with RAP will continue to have intermittent or constant IBS [ 40, 41 ]. IBS is more likely to persist where there is a family history of IBS [ 42 ]. [patient.info]

[…] rotated Nose: Angle pronounced, Large nose/bulbous tip, Prominent supraorbital ridge & bridge Lips: Full Eye Corneal opacity: Cornea verticillata Conjunctival & Retinal vessels: Tortuous Systemic, Other Episodic fever: < 20 years Edema (50%) Hypothyroid Prognosis [neuromuscular.wustl.edu]

It is yet to be determined whether the etiology of FHM3 and childhood seizures both result from sodium channelopathies affecting the brain. [jci.org]

For the purpose of discussion in this review, the terms “psychogenic” or “pseudoneurologic” will be used to refer to neurologic symptoms for which a psychologic etiology is suspected. [aafp.org]

Etiology The pathophysiology of chronic pain syndrome (CPS) is multifactorial and complex and still is poorly understood. [emedicine.medscape.com]

The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals. [epilepsydiagnosis.org]

Etiology and pathogenesis The specific causes of CRPS are unknown. [ped-rheum.biomedcentral.com]

Related to Disuse of muscle Metabolic syndrome Pathology Skin biopsy: Reduced epidermal axon density Nerve biopsy ± Reduced numbers of small & large axons Inflammation: Epineurial vessels in some patients with severe pain & absent SNAPs 10 Epidemiology [neuromuscular.wustl.edu]

Relevant External Links for SCN10A Genetic Association Database (GAD) SCN10A Human Genome Epidemiology (HuGE) Navigator SCN10A Atlas of Genetics and Cytogenetics in Oncology and Haematology: SCN10A No data available for Genatlas for SCN10A Gene A tetrodotoxin-resistant [genecards.org]

Breivik, Oslo University Hospital, Oslo, Norway Senior Editors Torsten Gordh, Uppsala Universitet, Uppsala, Sweden Troels Jensen, Aarhus University, Aarhus, Denmark Eija Kalso, Helsinki University Central Hospital, Helsinki, Finland Clinical Science and Epidemiology [scandinavianjournalpain.com]

Opiate derived analgesics are also largely ineffective, with only sporadic cases of beneficial effect. [1] Epidemiology [ edit ] PEPD is an extremely rare disorder with only 15 known affected families. [2] There are some cases, however, of individuals [en.wikipedia.org]

This review summarizes the current information regarding the epidemiology, etiology, diagnosis, treatment and prognosis of pediatric CRPS. [ped-rheum.biomedcentral.com]

This is further implied by the usefulness of posterior hypothalamus stimulation for the treatment of these disorders. 25,26 (See sidebar for more on pathophysiology of CH, page 64.) [practicalpainmanagement.com]

Ultimately better knowledge of underlying pathophysiology in these heritable pain conditions may inform the development of novel treatments. [clinicaltrials.gov]

The mechanism underlying the pathophysiology of FHM2 may include increased extracellular K + concentration due to altered pump action or an increase in intracellular Ca 2+ concentrations that leads to CSD ( 46, 52 ). [jci.org]

Pathophysiology The pathophysiology involves a dysregulation of visceral nerve pathways, leading to visceral hyperalgesia. Infective, inflammatory or psychological triggers may initiate this sensitisation [ 11, 12 ]. [patient.info]

Such altered firing will cause increased pain sensation and increased sympathetic nervous system activity, producing the phenotype observed in patients with PEPD. [2] Pathophysiology [ edit ] There are a total of 8 mutations that account for the disorder [en.wikipedia.org]

In this way, episodes can usually be prevented (in 60 percent of patients completely prevented, in 33 percent partially prevented, and in about 5 percent colchicine is not effective) and amyloidosis can be prevented in 100 percent of patients. [my.clevelandclinic.org]

Research Summary My research aim is to gain a better understanding of the response of the nervous system to injury in order to develop strategies to promote peripheral nerve repair and to prevent the development of neuropathic pain. [ndcn.ox.ac.uk]

Clinically, colchicine prevents acute attacks and serum amyloid A amyloidosis. It is thought that a major effect is in modulating microtubules in neutrophils. [clevelandclinicmeded.com]

If/when the restrictive diet is not tolerable or does not prevent symptoms, the child's sense of being failed may make solving the problem more difficult. [patient.info]

On the prevention of migraine -focus on exercise and the patient's perspective. Doctoral Theses, University of Goteborgs. ↑ S. Darabaneanul, C. H. Overath1, D. Rubin, S. Lüthje, W. Sye, U. Niederberger1, W.-D. Gerber1, B. Weisser. [physio-pedia.com]