Extractions: The patent was issued to Dr. Joan Fallon with offices in Yonkers, NY. Familal dysautonomia (FD) which is also known as Riley-day syndrome, is an autosomal recessive disease that affects approximately 1 in 4,000 individuals of Ashkenazi Jewish descent. This disorder is marked by a reduction of unmyelinated and small myelinated fibers as well as a reduction of dopamine-beta-hyrozylase in the blood. The United States Patent and Trademark Office (USPTO) has issued today Patent # 6,660,831 METHOD FOR DIAGNOSING AND TREATING DYSAUTONOMIA AND OTHER DYSAUTONOMIC CONDITIONS. The patent, which will remain in force until 2017, covers the use of the neuropeptide secretin for the treatment of symptoms associated with familial dysautonomia. The patent was issued to Dr. Joan Fallon with offices in Yonkers, NY.
Entrez PubMed Click here to read Familial dysautonomia (rileyday syndrome) may be associated with epilepsy. Ochoa JG. Publication Types Letter. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Entrez PubMed Spontaneous colonic ischemia in a patient with rileyday syndrome. Applegate KE, Sargent SK. Department of Radiology, Children s http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra
:: Ez2Find :: Familial Dysautonomia Resource for families, researchers, and clinicians interested in FD. Also known as rileyday syndrome. URL http//www.fdvillage.org; http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas
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Extractions: Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode
Riley - MiMi Home, Riley. rileyday syndrome is an inherited disorder that affects the function of nerves throughout the body. Causes, incidence http://en.mimi.hu/disease/riley.html
Extractions: Riley -Day syndrome is inherited as an trait, which means that a person must inherit the defective gene from both parents in order to develop the condition. callurl('http://www.nlm.nih.gov/medlineplus/ency/article/001387.htm'); CreateTd(1) Riley -Day syndrome is an inherited disorder that affects the function of nerve s throughout the body. Riley -Day syndrome is inherited as an autosomal recessive trait, callurl('http://health.allrefer.com/health/riley-day-syndrome-info.html'); CreateTd(2) Riley -Day syndrome is inherited as an trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. callurl('http://www.kernanhospital.com/ency/article/001387.htm'); CreateTd(3) O'Neil EH
Extractions: Familial Dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are apparent at birth. The autonomic nervous system controls vital involuntary body functions.
Definitions Of Genetic Disorders-R Hanhart Syndrome aminoacid.htm Rieger Syndrome rieger.htm Rieter s Syndrome reiters.htm Right Ventricular Fibrosis emcf.htm rileyday syndrome dysaut.htm Riley http://www.icomm.ca/geneinfo/def-r.htm
List Of Rare Diseases Starting With R polydactyly; Rigid spine syndrome; rileyday syndrome; Ringed hair disease; Rivera Perez Salas syndrome; Roberts Syndrome; Robin sequence and http://www.fact-index.com/l/li/list_of_rare_diseases_starting_with_r.html
Extractions: Main Page See live article Alphabetical index This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp A B C ... Q R S T U V ... Rabies Rabson-Mendenhall syndrome Radial defect Robin sequence Radial hypoplasia, triphalangeal thumbs and hypospadias Radial ray agenesis Radial ray hypoplasia choanal atresia Radiation induced angiosarcoma of the breast Radiation induced meningioma Radiation leukemia Radiation related neoplasm /cancer Radiation syndromes Radiation-Induced Brachial Plexopathy Radiculomegaly of canine teeth congenital cataract Radio digito facial dysplasia Radio renal syndrome Radiophobia Radioulnar synostosis mental retardation hypotonia Radioulnar synostosis retinal pigment abnormalities Radio-ulnar synostosis type 1 Radio-ulnar synostosis type 2 Radius absent anogenital anomalies Raine syndrome Rambam Hasharon syndrome Rambaud Galian syndrome Ramer Ladda syndrome Ramon Syndrome Ramos Arroyo Clark syndrome Ramsay Hunt paralysis syndrome Rapadilino syndrome Rapp-Hodgkin syndrome Rasmussen encephalitis Rasmussen Johnsen Thomsen syndrome Rasmussen subacute encephalitis Ray Peterson Scott syndrome Raynaud's disease/phenomenon Rayner Lampert Rennert syndrome Reactive airway disease Reactive arthritis Reactive attachment disorder of early childhood Reactive attachment disorder of infancy Reactive hypoglycemia Reardon Hall Slaney syndrome Reardon Wilson Cavanagh syndrome Rectal neoplasm
HONselect - Dysautonomia, Familial Type III Hereditary-Sensory and Autonomic Neuropathy Type III - Neuropathy, Hereditary and Autonomic, Type III - riley-day syndrome - Dominant Hereditary http://www.hon.ch/HONselect/RareDiseases/C10.177.272.html
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: aspirate, aspiration into the lungs, gastroesophageal reflux, GER, swallowing dysfunction, neurological disorders, neurologic disorders, structural abnormalities, fluid aspiration, foreign body aspiration, foreign substance aspiration, pneumonia, aspiration pneumonia, deglutition pneumonia, bronchopneumonia, cricopharyngeal dysfunction, cricopharyngeal incoordination of infancy, transient pharyngeal muscle dysfunction, superior laryngeal nerve damage, vocal cord paralysis, cerebral palsy, muscular dystrophy, Riley-Day syndrome, familial dysautonomia, anatomic disorders, cleft palate, esophageal atresia, tracheoesophageal fistula, duodenal obstruction, malrotation, motility disorders, achalasia, microaspiration Background: Aspiration syndromes include all conditions in which foreign substances are inhaled into the lungs. Most commonly, aspiration syndromes involve oral or gastric contents associated with gastroesophageal reflux (GER), swallowing dysfunction, neurological disorders, and structural abnormalities. Gastroesophageal reflux is very common in infants and children and has been associated with a spectrum of pediatric problems; however, it is not known what percentage of reflux causes respiratory complications. In 1912, Sir William Osler described the relationship between asthma and GER by stating that "attacks may be due to direct irritation of the bronchial mucosa or... indirectly, too, by reflex influences from stomach." Recent literature describes GER and aspiration syndromes as common occurrences with increasing diagnostic rates. Eosinophilic gastrointestinal disorders, eg, eosinophilic esophagitis and gastroenteritis, may also manifest similarly to GER but are refractory to traditional reflux therapies.
MUMS List Of Disorders - Q - R 1); rileyday syndrome (Dysautonomia, Familial) (3) **www.fdvillage.org/; Riley-Smith Syndrome (Bannayan-Riley-Ruvalcaba) (7); Ring http://www.netnet.net/mums/mum_q-r.htm
MUMS List Of Disorders - F - G 3); Familial Dysautonomia (rileyday syndrome) (8)** www.fdvillage.org/; Familial Erythrophagocytic Lymphohistiocytosis (1) *; Familial http://www.netnet.net/mums/mum_f-g.htm
Extractions: indicates there is a support group which covers that diagnosis. FG Syndrome (17) * FG Syndrome Home Page Fabry Disease (3) * Facial Cleft (4) Facio-Auriculo-Vertebral Spectrum (Goldenhar Syndrome) (43) ** Facio-Scapulo-Humeral Dystrophy, Infantile (FSH) (3) * Facioscapuloperoneal Dystrophy, Infantile (1) Factor IV Deficiency (1) Factor V Deficiency (2) Factor XI Deficiency (1) Factor XIII Deficiency (1) Fahr's Disease (1) Failure To Thrive (212) Fainting Spells, Undiagnosed (3) Familial Adenomatous Polyposis (Gardner Syndrome) (3) Familial Dysautonomia (Riley-Day Syndrome) (8)** www.fdvillage.org/ Familial Erythrophagocytic Lymphohistiocytosis (1) * Familial Exuderitive Vitrio (1) Familial Mediteranean Fever (3) Familial Spastic Diplegia (Paraparesis or Paraplegia) (7) Fecal Retention Syndrome (following imperforate anus surgery) (3) Feet not growing (1) Feingold Syndrome (Oculo-Digit-Esophageal-Duodenum (ODED) (1) Femoral Antiversion (1) Femoral Focal Deficiency, Proximal (PFFD) (10)*
The Motor-Sensory Unit System rileyday syndrome riley-day syndrome or familial dysautonomia may produce neonatal hypotonia. It should be suspected in hypotonic http://pediatricneuro.com/alfonso/pg135.htm
Extractions: Neuronal-axonal disease not associated with Werdnig-Hoffmann disease is a rare condition that primarly involves the axons. Neuronal-axonal disease not associated with Werdnig-Hoffmann disease refers to a group of peripheral neuropathies in which the axon is the primary structure involved. Nerve conduction is normal or only moderately slow. It is diagnosed by sural nerve biopsy. The biopsy shows sphered bodies in the axons, particularly in the presynaptic region. It is important to diagnose this entity because neonates with this disorder may not deteriorate and may even improve with time. The disease has a sporadic or autosomal-dominant inheritance. Giant Axonal Neuropathy Giant axonal neuropathy is a rare condition that involves the central and peripheral nervous systems. It should be suspected when the patient has tightly curled, kinky, poorly pigmented scalp hair. Motor and sensory nerve conduction velocity may not be decreased. The diagnosis is established by finding greatly enlarged axons filled with disarrayed neurofilaments in sural nerve biopsy. The cause is probably an error of metabolism affecting the formation of neurofilaments. Infantile Porphyria Infantile porphyria may produce neonatal hypotonia. The clinical course is characterized by recurrent polyneuropathy. Nerve conduction velocity is normal. The characteristic findings are increased urine delta-aminolevulinic acid and coproporphyrin levels and decreased erythrocyte aminolevulinic acid synthetase activity.
ACR Learning File Web information. Diagnosis Discitis, psoas abscess. Underlying disorder (rileyday syndrome). Congenital insensitivity to pain. Return to top. http://www.learningfile.com/learning_file/viewcase.php?section=pd&case_num=6090
Avera Health - Riley-Day Syndrome rileyday syndrome. a family history of riley-day syndrome; Ashkenazi Jewish heritage; feeding difficulties poor sucking and poor ability to swallow, drooling; http://www.avera.org/adam/ency/article/001387sym.htm
Extractions: Signs and tests: DNA testing can be done by linkage analysis or direct mutation testing. However, the formal diagnosis of Riley-Day is based on observations, not genetic testing. The signs are: Evidence of recurrent aspiration pneumonia on an X-ray of the chest Cyclic vomiting Unsteady gait Damage to the eye due to lack of tearing and blink reflex; gently touching the cornea of the eye with a "Q-Tip" won't produce a blink Absence of flare response to histamine. (Normally, when histamine is injected just under the skin there will be
Avera Health - Riley-Day Syndrome rileyday syndrome. Alternative Names Life expectancy is shortened. A person who lives into their 40 s is old for a riley-day syndrome patient. http://www.avera.org/adam/ency/article/001387trt.htm
Extractions: Treatment: Protection from injury is critical. Problems are treated as they occur, including treatment of aspiration pneumonia , anticonvulsant therapy if seizures are present, and liquid tears and bethanechol to prevent drying of eyes. Anti-emetics may be used to control vomiting . Postural hypotension can be managed with increased fluid and salt intake, caffeine, and waist-high elastic stockings. An annual spine exam is needed to monitor for scoliosis, which can be treated with braces or surgery. Calling your health care provider: Call your health care provider if you have a family history of Riley-Day syndrome and are planning to have a child or expecting a child. If you are unsure of your family history but belong to a high-risk population, it may be helpful to consult a genetic counselor.
Extractions: helpful? yes no Congenital Insensitivity to Pain: Congenital Indifference to Pain; Hereditary and Sensory Autonomic Neuropathy Types I-IV; HSAN Types I-IV In Congenital Insensitivity to Pain, there are structural abnormalities in peripheral nerves which are the peripheral pathways carrying electrical impulses from pain sensitive nerve endings in both superficial and deep tissues. In Congenital Indifference to Pain, the peripheral nerves are intact and the defect is apparently in the central structures such as the thalamus where painful impulses are normally interpreted. However, it is now thought that some individuals, formerly given a diagnosis of Congenital Indifference to Pain, have been shown by refined histological techniques, which look at the minute structures of bodies, to also have peripheral nerve abnormalities and are therefore examples of Congenital Insensitivity to Pain. Nevertheless, Congenital Indifference to Pain almost certainly exists as an independent condition, but is very rare. Congenital Insensitivity to Pain (of which types I to IV are generally accepted, with some other very rare conditions) is usually classified under the more general heading of Hereditary and Sensory Autonomic Neuropathy (HSAN). The various categories are distinguished according to clinical features, including age of onset, progressive or non-progressive, presence or absence of abnormalities of the autonomic nervous system, if the system is sympathetic (augmenting actions) or parasympathetic (inhibiting actions) and also according to the nature of structural abnormalities in peripheral nerves.
