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]

• Respiratory Disorders

  Contains comprehensive coverage of TRP channels as therapeutic targets, from emerging clinical indications to completed clinical trials Discusses TRP channels as validated targets, ranging from obesity and diabetes through cancer and respiratory disorders [books.google.com]

• Hypertension

  […] coverage of TRP channels as therapeutic targets, from emerging clinical indications to completed clinical trials Discusses TRP channels as validated targets, ranging from obesity and diabetes through cancer and respiratory disorders, kidney diseases, hypertension [books.google.com]

  Paresthesia Burning Increased at night Motor: Fatigue; Occasional distal weakness in toes (Plantar flexion; Abduction) Tendon reflexes: Generally preserved; ± Reduced distally Autonomic disorders: Especially cholinergic 4 Pain Vasomotor: Skin; Secretory Hypertension [neuromuscular.wustl.edu]

  […] vitamin K-dependent coagulation factors deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency Continuous spikes and waves during sleep Corneal-cerebellar syndrome Cornelia de Lange syndrome Coronary artery disease - hyperlipidemia - hypertension [sanfordresearch.org]

  Primary, Dexfenfluramine-associated Pulmonary Hypertension, Primary Pulmonary Surfactant Metabolism Dysfunction, Type 2, Respiratory Insufficiency, Infantile-onset Progressive Pulmonary Toxicity when Exposed to Thioureas Pycnodysostosis Pyridoxine Responsive [sequencing.com]

  Hyper-cyanotic spells are most frequently seen in infants with Tetralogy of Fallot (known as 'tet spells'), however can be seen in other congenital cardiac defects with pulmonary or subpulmonary stenosis and a ventriculoseptal defect and in pulmonary hypertension [epilepsydiagnosis.org]

• Flushing

  […] by very brief episodes of excruciating rectal pain associated with flushing of the buttocks and legs, ocular pain and flushing of the eyelid and periorbital skin, and submaxillary pain [ 1 ]. [thejournalofheadacheandpain.springeropen.com]

  PEPD symptoms are reminiscent of primary erythromelalgia, as both result in flushing and episodic pain, though pain is typically present in the extremities for primary erythromelalgia. [en.wikipedia.org]

  Facial flushing and sweating mediated by the sympathetic nervous system. Brain. 1987; 110:793–803. CrossRef PubMed Google Scholar Saito H. Congenital Horner’s syndrome with unilateral facial flushing. J Neurol Neurosurg Psychiatry 1990; 53:85–86. [link.springer.com]

  This may be associated with flushing. Pain experienced by the patient in the anorectal region or around the eyes and submandibular region. [indianjpain.org]

  Pallor and autonomic symptoms such as flushing, sweating, feeling warm, nausea and abdominal discomfort may occur. [epilepsydiagnosis.org]

• Conjunctival Injection

  CH is a key TAC syndrome, along with paroxysmal hemicranias; short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT)/short-lasting unilateral neuralgiform headache attacks with cranial autonomic features [practicalpainmanagement.com]

• Eye Pain

  Other symptoms include profuse sweating, drowsiness, headache, extreme thirst, red eyes, blurred vision, eye pain, watering eyes and nausea Symptoms occur within hours after exposure to cold. [rarediseases.org]

• 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]

• Episodic Headache

  Migraine is a debilitating neurovascular pain disorder of episodic headaches that affects more than 10% of the population ( 30 ). [jci.org]

• Severe Unilateral Headaches

  We encountered a 5-year-old girl who had short-lasting, severe, unilateral temporal headaches with ipsilateral lacrimation, nasal congestion and rhinorrhoea, and facial flushing after severe attacks. [thejournalofheadacheandpain.springeropen.com]

• Suggestibility

  […] diabetes through cancer and respiratory disorders, kidney diseases, hypertension, neurodegenerative disorders, and more Provides critical analysis of the complications and side effects that have surfaced during clinical trials, offering evidence-based suggestions [books.google.com]

  Some literature suggests that in the absence of red flag or alarm symptoms, no investigations are justified. [patient.info]

  Interestingly, a study of a small cohort of patients suggested that photic exacerbation of migraine headache is only preserved in blind persons who retain the ability to perceive light ( 36 ). [jci.org]

  These suggest that there is some genetic variability for the predisposition to amyloidosis. [clevelandclinicmeded.com]

  This record may reveal inappropriate behavior patterns and exaggerated responses to pain or otherwise suggest a diagnosis. Physiologic conditions are treated. [merckmanuals.com]

• Visual Hallucination

  Symptoms at the onset of pseudoseizures that can be confused with seizure auras include palpitations, choking, numbness, pain and visual hallucinations. [aafp.org]

  Complex hallucinations with hallucinations of seeing people or scenes, hearing voices or formed music and distortions of visual perception may occur as an uncommon manifestation of focal seizures. [epilepsydiagnosis.org]

• Tremor

  Pseudotremor is the most common psychogenic movement disorder and is often mistaken for physiologic tremors such as essential tremor or medication-induced tremor but not the resting tremor associated with parkinsonism. [aafp.org]

  E - beta-thalassemia Hereditary cerebral cavernous malformation Hereditary chronic pancreatitis Hereditary coproporphyria Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary episodic ataxia Hereditary essential tremor [sanfordresearch.org]

  […] syndrome Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Focal, segmental or multifocal dystonia Folinic acid-responsive seizures Fountain syndrome Fowler syndrome Fragile X syndrome Fragile X-associated tremor [se-atlas.de]

  They found that the most common motor disturbance was dystonia, predominantly characterized by tonic flexion posture, followed by tremor and myoclonus [ 48 ]. [ped-rheum.biomedcentral.com]

  […] syndromes Norepinephrine in RSD extremity: Reduced Motor disorders Sense of weakness with complex motor tasks (79%): "Give-way" Difficulty initiating movements Limited range of motion: Wrist; Ankle Involuntary movements More common with nerve lesions Tremor [neuromuscular.wustl.edu]

• Dizziness

  POTS: Postural Orthostatic Tachycardia Syndrome is a condition associated with light headedness, fainting or dizziness when changing positions - especially from sitting or lying to standing. [mitoaction.org]

  Attacks of phobic postural vertigo 47 Continuous dizziness 38 Ocular symptoms Amblyopia 10 Amaurosis 6 Visual field defects 6 Color blindness 2 Double vision 2 Other visual phenomena 6 Ptosis 1 Convergence spasm 1 Unilateral gaze paresis 1 Alimentary [aafp.org]

  […] genetic databases Allelic disorders Clinical Onset age: Adult; 14 to 68 years Sensations reduced: Pain; Temperature Pain Distal > Proximal Legs > Arms Other: Some patients Myalgias Jaw Diffuse Exacerbation by warmth: 35% Autonomic symptoms Orthostatic dizziness [neuromuscular.wustl.edu]

  Early symptoms include blurring and loss of vision, ringing in the ears and dizziness. Pallor and autonomic symptoms such as flushing, sweating, feeling warm, nausea and abdominal discomfort may occur. [epilepsydiagnosis.org]

  Vertigo and dizziness may be related to brainstem activity or changes in blood flow around the vestibular mechanism. [3] The aura consists of fully reversible symptoms that precede or accompany the headache (HA). [physio-pedia.com]

• Dysarthria

  During the episodes the individual may have dysarthria, limb and gait ataxia and titubation (coarse tremor) of the head. [epilepsydiagnosis.org]

  […] dizziness 38 Ocular symptoms Amblyopia 10 Amaurosis 6 Visual field defects 6 Color blindness 2 Double vision 2 Other visual phenomena 6 Ptosis 1 Convergence spasm 1 Unilateral gaze paresis 1 Alimentary symptoms Dysphagia 4 Vomiting 4 Speech disturbances Dysarthria [aafp.org]

  Hyperplasia Sandhoff Disease, Infantile Type Scheie Syndrome Schnyder Crystalline Corneal Dystrophy Schwannomatosis Scott Syndrome Seckel Syndrome Segawa Syndrome Senile Amyloidosis Inclusion Body Myositis Senior-Loken Syndrome Sensory Ataxic Neuropathy, Dysarthria [sequencing.com]

  The prodromal symptoms reflect brainstem dysfunction: altered level of consciousness, dysarthria, tinnitus, ataxia, diplopia, symptoms in both the temporal and nasal fields of both eyes, and peripheral dysesthesias, followed by occipital headache. [physio-pedia.com]

  […] microcephaly Autosomal recessive pure spastic paraplegia Autosomal recessive spastic ataxia Autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic ataxia-optic atrophy-dysarthria [se-atlas.de]

• Nystagmus

  Nystagmus with caloric testing proves that coma is either feigned or hysterical, because nystagmus requires an intact cerebral cortex and brainstem. [aafp.org]

  There may be gaze-evoked nystagmus in between episodes and over time vertical nystagmus may develop. As events are prolonged it should be possible to capture them on home video. Acetazolamide can be a very effective treatment. [epilepsydiagnosis.org]

  Benign paroxysmal torticollis of infancy Bernard-Soulier syndrome Best vitelliform macular dystrophy Bicornuate uterus Bilateral renal agenesis Bilateral perisylvian polymicrogyria Biliary atresia Bohring-Opitz syndrome Brachydactyly Brachydactyly - nystagmus [sanfordresearch.org]

  […] due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Autosomal recessive cerebellar ataxia-psychomotor retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor [se-atlas.de]

  Hypoxanthine Guanine Phosphoribosyltransferase Deficiency Hystrix-Like Ichthyosis with Deafness, Keratitis-ichthyosis-deafness Syndrome Ichthyosis Vulgaris Ichthyosis with Hypotrichosis Ichthyosis, Harlequin Ichthyosis, Lamellar Idiopathic Infantile Nystagmus [sequencing.com]

• Vertigo

  Vertigo occurring as an aura may arise from teh same transient inhibition of neuronal function responsible for the visual aura. Episodic vertigo from vestibular migraine can be thought of as a subset of basilar migraine. [physio-pedia.com]

  Benign paroxysmal vertigo Benign paroxysmal vertigo is considered a migraine variant of childhood and is characterized by a subjective experience described by the child of the world spinning (vertigo). [epilepsydiagnosis.org]

  /dizziness Attacks of phobic postural vertigo 47 Continuous dizziness 38 Ocular symptoms Amblyopia 10 Amaurosis 6 Visual field defects 6 Color blindness 2 Double vision 2 Other visual phenomena 6 Ptosis 1 Convergence spasm 1 Unilateral gaze paresis 1 [aafp.org]

  […] frequencies Mild to Severe: Worse with Neuropathy Reduced renal function White matter lesions: Cerebrovascular disease Subclinical involvement: Early Residual enzyme activity > 1.5%: Protective against hearing loss Tinnitus (40%) Course: Progressive Vertigo [neuromuscular.wustl.edu]

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]

[…] 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]

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]

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]