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

Acronym FEPS1 Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

[…] and may be present in other disorders. [merckmanuals.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]

• Epilepsy

  Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile [se-atlas.de]

  Paroxysmal kinesigenic dyskinesia can be sporadic or familial, inherited in an autosomal dominant fashion, and may co-exist with epilepsy in the syndrome of familial infantile epilepsy (familial infantile epilepsy and paroxysmal kinesigenic dyskinesia [epilepsydiagnosis.org]

  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]

  SCN10A Disorders tested congenital indifference to pain ( CIP ) familial episodic pain syndrome ( FEPS ) generalized epilepsy with febrile seizures plus (GEFS+) hereditary sensory and autonomic neuropathy ( HSAN ) paroxysmal extreme pain disorder ( PEXPD [invitae.com]

  Ion channel function is critical for many different cell functions, and disruptions in specific channels have been linked with migraine, epilepsy, and multiple pathological pain disorders. [sciencedaily.com]

• Anorexia

  Review of systems seeks concomitant GI symptoms such as gastroesophageal reflux, anorexia, bloating or “gas,” nausea, vomiting, jaundice, melena, hematuria, hematemesis, weight loss, and mucus or blood in the stool. [merckmanuals.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]

• Weight Loss

  Review of systems seeks concomitant GI symptoms such as gastroesophageal reflux, anorexia, bloating or “gas,” nausea, vomiting, jaundice, melena, hematuria, hematemesis, weight loss, and mucus or blood in the stool. [merckmanuals.com]

  Plot height and weight on a growth chart (documented significant weight loss is a red flag sign). Check for signs of anaemia, jaundice, mouth ulcers, skin rash and arthritis. [patient.info]

• Weight Gain

  gain and growth Impaired renal function Osteoporosis and osteopenia Fainting and cardiac arrhythmias Sleep apnea Restrictive lung disease Average lifespan: Currently, the mean age of the FD population is approximately 15 years. [familialdysautonomia.org]

• Failure to Thrive

  […] 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]

  […] 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]

• Loss of Appetite

  Additional common symptoms can include: Headache Abdominal pain Loss of appetite Flu-like symptoms The disease symptoms and severity can differ from patient to patient. [my.clevelandclinic.org]

• Tachycardia

  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 breathing difficulties, tachycardia, peribuccal cyanosis, and stiffness of the abdominal wall. Recent studies have also linked the gene to cardiovascular disease and changes in blood pressure. [cags.org.ae]

  […] 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]

  EKG recordings during attacks show sinus tachycardia. CT, MRI, EMG and nerve conduction studies produce normal results. EEG recordings are normal between attacks but show early-onset tachycardia during attacks. [en.wikipedia.org]

• Peripheral Neuropathy

  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]

  Among the VGSCs isoforms, Nav1.7, Nav1.8 and Nav1.9 are preferentially expressed in the peripheral nervous system. [clinsci.org]

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

  Abstract Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. [ncbi.nlm.nih.gov]

  Test Catalog Invitae Small Fiber Neuropathy Test Test description The Invitae Small Fiber Neuropathy Test analyzes up to two genes that are associated with small fiber neuropathy ( SFNP ), a type of peripheral neuropathy characterized by severe pain episodes [invitae.com]

• Tremor

  […] 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]

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

• Neuralgia

  */genetics Neuralgia*/metabolism Neuralgia*/physiopathology Pedigree Syndrome Substances NAV1.9 Voltage-Gated Sodium Channel SCN11A protein, human Scn11a protein, mouse [ncbi.nlm.nih.gov]

  Decompression Decompression is a type of surgery used for nerve pain, such as from trigeminal neuralgia. The doctor cuts open your skin and then tries to move away blood vessels or other body structures that are pressing on nerves and causing pain. [northshore.org]

• Tremulousness

  Myoclonus is a mixture of small- and larger-amplitude muscle jerks, giving rise to a tremulous appearance. Myoclonus is primarily action-induced, but in severe cases is present at rest. [epilepsydiagnosis.org]

• Vertigo

  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]

If you delay treatment, the pain may get worse. [northshore.org]

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

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]

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]

Most children, however, adapt to the treatment, and when well controlled, FMF should not interfere with a normal education and productive adult life. [rheumatology.org]

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]

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

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

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

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]

Epidemiology [ 8 ] RAP affects 10-20% of school-aged children worldwide [ 9 ]. 3-8% of children with this pattern of pain have a causative organic pathology (and are excluded from the Rome definition of RAP). They usually have 'alarm' features. [patient.info]

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]

It is considered a migraine variant as there is often a family history of migraine headache, though the pathophysiology is not well understood. Usually no trigger to a particular episode can be defined. [epilepsydiagnosis.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]

Broader health impacts of Familial Mediterranean Fever and how to prevent them The most severe complication of untreated FMF is the development of amyloidosis. [rheumatology.org]

Treatments are supportive and preventative. Supportive therapies include medications to maintain and regulate cardiovascular, respiratory, and gastrointestinal function. [familialdysautonomia.org]

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]

Biological Research Laboratories, Daiichi Sankyo Co., Ltd., Shinagawa-ku, Tokyo, Japan. 5 Okazaki Institute for Integrative Bioscience, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Aichi, Japan. 6 Department of Preventive [ncbi.nlm.nih.gov]