Human monogenic pain syndromes have provided important insights into the molecular mechanisms that underlie normal and pathological pain states. [ncbi.nlm.nih.gov]

Definition An autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress. [uniprot.org]

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]

In AMP, pain signals are amplified, thus mildly painful or non-painful stimuli are registered by the body as very painful, and this leads to a functional disability – as the patient tries to avoid the induction of pain. [ped-rheum.biomedcentral.com]

This topic is for people with chronic pain caused by problems other than cancer. If you are looking for information on pain caused by cancer, see the topic Cancer Pain. What is chronic pain? Pain that lasts for 3 months or longer is called chronic. [northshore.org]

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]

We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress. [ncbi.nlm.nih.gov]

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]

] 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]

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]

We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress. [ncbi.nlm.nih.gov]

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]

] 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]

[…] 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 several members of a family, which is triggered or exacerbated by fatigue [rarediseases.info.nih.gov]

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, triggered by conditions of fatigue [genome.jp]

Ninety-eight percent of patients had other somatic complaints consistent with SFPN dysautonomia (90% cardiovascular, 82% gastrointestinal, and 34% urologic), 83% reported chronic fatigue, and 63% had chronic headache. [pediatrics.aappublications.org]

Large fiber Pin loss: Distal; Most patients Vibration: Commonly (50%) reduced Sensory ataxia: Increased falling in some patients Pain: Some patients Distal Proximal: May be prominent in proximal regions Paresthesia Burning Increased at night Motor: Fatigue [neuromuscular.wustl.edu]

Side effects seen more often in people taking CBD included diarrhea, vomiting, fatigue, fever, sleepiness and abnormal results on liver function tests. What's the outlook? Seizures are refractory to medications in people with Dravet Syndrome. [epilepsy.com]

Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated. Last updated: 9/3/2018 [rarediseases.info.nih.gov]

The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. [uniprot.org]

[…] generalized pallor Peribuccal cyanosis Abdominal wall stiffness Duration: 1.5 hours Prodrome: Episode may be aborted Post episode: Exhaustion & Deep sleep Between episodes No altered pain sensitivity Neurologic exam: Normal Laboratory Skin biopsies: [neuromuscular.wustl.edu]

Abnormal physical signs such as pallor, jaundice, guarding, rebound tenderness, altered bowel sounds, or a palpable mass. Joint inflammation. Oral and/or perianal lesions. Skin rashes. Delayed puberty. [patient.info]

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

[…] neuronal potassium channelopathy, Neurotherapeutics, 2007, vol. 4 (pg. 258 - 66 ) Three novel KCNA1 mutations in episodic ataxia type I families, Hum Genet, 1998, vol. 102 (pg. 464 - 6 ) Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea [academic.oup.com]

[…] palate (Anterior) & Inner lip Bilateral (85%) Not in distribution of single peripheral nerve Temporal Reduced in morning Increases through day Not aggravated by eating or drinking No effect on sleep Taste: Lost or Altered (Bitter, Metallic) Dry mouth (Xerostomia [neuromuscular.wustl.edu]

Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated. Last updated: 9/3/2018 [rarediseases.info.nih.gov]

The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. [uniprot.org]

Postural orthostatic tachycardia syndrome Postural orthostatic tachycardia syndrome (POTS) affects between 1 and 3 million people in the United States (U.S.). Around 80 percent of them are female. [medicalnewstoday.com]

[…] polyneuropathy CWP — chronic widespread pain ENF — epidermal nerve fiber ESR — erythrocyte sedimentation rate GBS — Guillain-Barré syndrome, (acute inflammatory demyelinating polyneuropathy) IVIG — intravenous immune globulin POTS — postural orthostasis tachycardia [pediatrics.aappublications.org]

Review of vital signs should particularly note presence of fever or tachycardia. General examination should seek presence of jaundice, skin rash, and peripheral edema. [merckmanuals.com]

The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. [uniprot.org]

Infancy Triggers Types: Fasting, Fatigue, Cold, Illness, Physical exertion Combination of factors more likely to precipitate episodes Episodes Upper body pain: Severe Breathing difficulties Tachycardia Sweating Pallor generalized pallor Peribuccal cyanosis [neuromuscular.wustl.edu]

Spells may be characterized by crying, panic, rapid deep breathing, deepening cyanosis, limpness and subsequently a tonic-clonic episode. [epilepsydiagnosis.org]

[…] warmth and swelling triggered by stress/light touch, bone demineralization, skin trophic changes stage 2 dystrophic phase/Sudek's atrophy; lasting for several months; characterized by constant unrelenting pain, exacerbated by any stimulus, and tissue cyanosis [medical-dictionary.thefreedictionary.com]

Autonomic findings Autonomic findings of the affected limb include swelling and edema, temperature changes (usually the affected limb is cooler), hyperhidrosis, changes in skin color, cyanosis and sensitivity to cold, and mottled, dry skin [ 3, 5, 47 [ped-rheum.biomedcentral.com]

Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated. Last updated: 9/3/2018 [rarediseases.info.nih.gov]

The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. [uniprot.org]

Other symptoms include headaches, excessive sweating, and an abnormal heart rate that does not respond to medication. [medicalnewstoday.com]

Quantification of sweat gland innervation: a clinical-pathologic correlation. Neurology. 2009/04/29 ed. 2009;72(17):1479–86. Gibbons CH, Freeman R, Veves A. [jrmds.in]

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

Candidate gene sequencing identified a point mutation (N855S) in the S4 transmembrane segment of TRPA1, a key sensor for environmental irritants. [ncbi.nlm.nih.gov]

The irritable bowel severity scoring system: a simple method of monitoring irritable bowel syndrome and its progress. Aliment Pharmacol Ther. 1997;11(2):401. [aafp.org]

Previously used terms: Chronic abdominal pain; functional abdominal pain; functional dyspepsia; irritable bowel syndrome; functional abdominal pain syndrome. [ichd-3.org]

(serotonin) receptor 1A, G protein-coupled 5 63960048: 63962292 GPCR for serotonin thermal pain perception HTR2A 5-hydroxytryptamine (serotonin) receptor 2A 13 47,407,513: 47,470,369 receptor for the neurotransmitter serotonin musculoskeletal pain, irritable [painresearchforum.org]

Genetics of irritable bowel syndrome. Am J Gastroenterol 2008;103:2100-4. 12. Prithvi Raj P, Erdine S. Pain-relieving procedures: The illustrated guide. 1 st ed. Ch. 1. p. 7. [indianjpain.org]

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]

An electrodiagnostic approach to the evaluation of peripheral neuropathies. Phys Med Rehabil Clin N Am [Internet]. 2013 Feb [cited 2015 Dec 25];24(1):153–68. [jrmds.in]

neuropathy) The symptoms of Friedreich's ataxia usually get gradually worse over many years. [nhs.uk]

neuropathy Acquired von Willebrand syndrome Acral peeling skin syndrome Acromegaly Acromesomelic dysplasia Actinic prurigo Activated PIK3-delta syndromea Acute adrenal insufficiency Acute biphenotypic leukemia Acute disseminated encephalomyelitis Acute [sanfordresearch.org]

This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [genecards.org]

Quantitative sensory testing demonstrated normal baseline sensory thresholds but an enhanced secondary hyperalgesia to punctate stimuli on treatment with mustard oil. [ncbi.nlm.nih.gov]

[…] in anesthetic skin Laboratory HLA-DQ1 association: 69% vs 42% in controls Quantitative sensory testing: Patients with sympathetic maintained pain Warm thresholds: Increased Hyperalgesia to painful cold stimuli X-ray: Osteoporosis Patchy Time: After 4 [neuromuscular.wustl.edu]

Symptoms include limb pain; allodynia; hyperalgesia; swelling and/or changes in skin color of the affected limb; dry, mottled skin; hyperhidrosis and trophic changes of the nails and hair. [ped-rheum.biomedcentral.com]

Because of central sensitization phenomena, the areas of allodynia and hyperalgesia may extend beyond the innervation territory. 35 4.3. [journals.lww.com]

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]

Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2. Cerebellum 2014;13:411–413. 11. Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, et al. [e-jmd.org]

Remember also to be alert to any features suggestive of child abuse, including sexual abuse and neglect [ 23 ]. [patient.info]