The 2019 movie, Awoken , uses FFI as a major plot element. [ citation needed ] FFI is a major plot element and is described in detail in the Lewis episode "Falling Darkness". In the first episode of the 2020 TV series Next , one of the main characters confesses to have the disease and says "It's a real thing, look it up." ... Fatal familial insomnia induced by genetic engineering is part of the backstory of Destiny 2: Beyond Light . [32] References [ edit ] ^ a b c d e f g h i "Fatal familial insomnia" . Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . Retrieved 17 May 2019 . ^ a b c d e f g h i j "Fatal Insomnia - Neurologic Disorders" . ... National Geographic Magazine . p. 74. ^ Reference, Genetics Home h. "PRNP gene" . Genetics Home Reference .
A number sign (#) is used with this entry because fatal familial insomnia (FFI) is associated with mutation in the prion protein gene (PRNP; 176640). Description Fatal familial insomnia is a prion disorder showing autosomal dominant inheritance. It is clinically characterized by insomnia with or without a diurnal dreaming state, hallucinations, delirium, and dysautonomia preceding motor and cognitive deterioration. FFI is specifically associated with the asp178-to-asn mutation of the PRNP gene (D178N; 176640.0010) when the amino acid at position 129 is methionine (M129V; 176640.0005). The D178N mutation and the val129 allele results in Creutzfeldt-Jacob disease (CJD; 123400) (see 176640.0007) (Goldfarb et al., 1992).
Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.
Fatal familial insomnia (FFI) affects the thalamus , the part of the brain that controls the sleep-wake cycle. Symptoms typically begin between the ages of 40-60 years. The most common symptoms are sleep disturbance, psychiatric problems, weight loss, and balance problems. Other symptoms include high blood pressure, excess sweating, and difficulty controlling body temperature. These symptoms tend to get worse over time. FFI is usually fatal in 6-36 months. Almost all cases of FFI occur due to a specific variant in the PRNP gene and are inherited in an autosomal dominant pattern.
Stages I and II), the decreased survival could be attributable to earlier distant metastasis appearing during the natural history of these tumors, as compared to other squamous cell carcinomas and NSCLCs in general. [6] Epidemiology [ edit ] The true incidence and prevalence of basaloid squamous cell lung carcinoma remains unknown, but this form of lung cancer is considered relatively uncommon. [16] In one of the largest studies of this particular variant, Moro-Sibilot and co-workers found a 6.3% prevalence of Bas-SqCC among 1,418 consecutive NSCLC patients at their institution. [6] Basaloid carcinomas of the lung - like nearly all recognized variants of lung cancer - are highly associated with tobacco smoking . [6] Basaloid architecture in pulmonary carcinomas has been shown to be particularly prevalent in smokers with heavy exposure, [6] and squamous cell carcinoma has the strongest association with tobacco exposure than any other major cell type of NSCLC. [18] As compared to other forms of lung cancer, Bas-SqCC often occurs in those who are somewhat older than average. [6] As SqCC is also associated with presentation at somewhat older ages, the true relevance/effect size of the basaloid-age interaction remains unknown. [ citation needed ] Basaloid squamous cell carcinoma usually begins centrally , in the larger proximal bronchi . [16] Basaloid carcinoma primary in the lung may also occur in a multicentric form. [19] References [ edit ] ^ a b c Travis, William D; Brambilla, Elisabeth; Muller-Hermelink, H Konrad; Harris, Curtis C, eds. (2004). ... PMID 2987102 . ^ a b c Brambilla E, Travis WD, Colby TV, Corrin B, Shimosato Y (December 2001).
. ^ Morris CV, DiNieri JA, Szutorisz H, Hurd YL (November 2011). "Molecular mechanisms of maternal cannabis and cigarette use on human neurodevelopment" . ... S2CID 10697253 . v t e Cannabis Outline of cannabis Recreational and medical applications Industrial applications General Autoflowering cannabis Cannabis indica ruderalis sativa Difference between C. indica and C. sativa Consumption Cultivation Etymology ( cannabis , dagga , ganja , ma , marijuana ) Glossary Cannabis strains Synthetic cannabis Usage General Medical cannabis Cannabis product testing History In the US Medical cannabis card Religious and spiritual use Chalice Drug testing Marijuana Anonymous Hemp Hanfparade List of hemp diseases List of hemp products hempcrete jewelry milk oil paper rolling paper List of hemp varieties Hemp for Victory Hemp Industries Association The Emperor Wears No Clothes Variants Cannabis edible Bhang Cannabis tea Cannabis smoking Vaporizing Cannabis concentrate Essential oil Charas Hash oil Hashish Kief Tincture Phytocannabinoids Cannabidiol (CBD) Tetrahydrocannabinol (THC) Effects Amotivational syndrome Cannabis in pregnancy Cannabis use disorder (CUD) Cannabinoid hyperemesis syndrome (CHS) Entourage effect Endocannabinoid system Impaired driving Time perception Long-term effects Occupational health concerns Medical cannabis research Culture 420 Budtender Cannabis Culture Cannabis Social Club Competitions Cookbooks Etiquette Films ( Stoner film ) High Times Music Religion Head shop KBUD-AM (defunct) Operation Overgrow Stoner TV Pro-cannabis organizations ACT ALCP AMMA ASA CBN CCRMG CLEAR CRC DFCR DPA FAAAT FCA GMM LEAP MAPS MPP NCIA NORML SAFER SCC SSDP VMCA Use demographics Adult lifetime use by country Annual use by country Politics General Bootleggers and Baptists Cannabis rights Cannabis activists Capital punishment for cannabis trafficking Effects of legalized cannabis Global Marijuana March Legality of cannabis Legal history in the United States Marihuana Tax Act of 1937 Timeline of cannabis law Major legal reforms Canada: 2018 Cannabis Act UK: Return to class B Uruguay: Law No. 19172 US: Decriminalization of non-medical use Rescheduling per the Controlled Substances Act Hemp Farming Act of 2018 Politicians and parties Cannabis political parties List of British politicians who have acknowledged cannabis use List of American politicians who have acknowledged cannabis use Legal cases Ker v.
It describes an extremely rare condition in which babies are born with limbs that look like flippers. ^ Olney, Richard S.; Hoyme, H. Eugene; Roche, Frances; Ferguson, Kevin; Hintz, Susan; Madan, Ashima (2001). ... "Which 'AHS: Freak Show' "Freaks" Are Real And Which Ones Are Modified For TV?" . Bustle.com . Retrieved June 26, 2017 . ^ a b Walker, Stephen (24 November 2007).
A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.
Phocomelia is a rare birth defect that can affect the upper and/or lower limbs. In people with this condition, the bones of the affected limb are either missing or underdeveloped. The limb is, therefore, extremely shortened and in severe cases, the hand or foot may be attached directly to the trunk. The involvement of the condition ranges from a single limb to both upper and lower limbs. In many cases, the underlying cause of phocomelia is poorly understood.
Examination of the stool for eggs and parasites confirms the diagnosis. The eggs and proglottids of H. nana are smaller than H. diminuta. ... H. diminuta [ edit ] The risk of human infection from H. diminuta is very low, since its main host is the rat. ... This is so the beetle does not waste energy in its reproductive system, allowing H. diminuta to further exploit the beetle's metabolic resources. [5] H. nana [ edit ] H. nana is a tapeworm, belonging to the class Cestoidea, phylum Platyhelminthes. ... The most common intermediate hosts for H. nana are arthropods (e.g. flour beetles). ... Repeated treatment is required for H. nana at an interval of 7–10 days.
Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly Hymenolepis nana , that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.
. ^ Benenati G, Penkov S, Müller-Reichert T, Entchev EV, Kurzchalia TV (May–Jun 2009). "Two cytochrome P450s in Caenorhabditis elegans are essential for the organization of eggshell, correct execution of meiosis and the polarization of embryo".
Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina ). The deposits damage the retina, resulting in progressive vision loss. People with Bietti crystalline dystrophy typically begin noticing vision problems in their teens or twenties. They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose areas of vision (visual field loss), most often side (peripheral) vision.
Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion.
Summary Clinical characteristics. Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina and (to a variable degree) the cornea. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE) / choroid lead to symptoms similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss, and often impaired color vision. Marked asymmetry between eyes is not uncommon. Onset is typically during the second to third decade of life, but ranges from the early teenage years to beyond the third decade. With time, loss of peripheral visual field, central acuity, or both result in legal blindness in most if not all affected individuals. Diagnosis/testing. The diagnosis of BCD is based on the finding of numerous small, glistening yellow-white retinal crystals associated with atrophy of the RPE, pigment clumps, and sclerosis of the choroidal vessels; variable crystalline deposits in the corneal limbus; varying degrees of rod and cone dysfunction on electroretinography; visual field defects; and reflective dots visualized by spectral domain optical coherence tomography.
A number sign (#) is used with this entry because of evidence that Bietti crystalline corneoretinal dystrophy (BCD) is caused by homozygous or compound heterozygous mutation in the CYP4V2 gene (608614) on chromosome 4q35. Description Bietti crystalline corneoretinal dystrophy is an autosomal recessive retinal dystrophy characterized by numerous tiny glistening yellow-white crystals at the posterior pole of the retina, associated with atrophy of the retinal pigment epithelium (RPE), pigment clumps, and choroidal sclerosis. Most cases have similar crystals at the corneoscleral limbus. The disorder is progressive; most patients develop decreased vision, nyctalopia, and paracentral scotomata between the second and fourth decades of life. Patients later develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the fifth or sixth decade of life. In a series of European patients diagnosed with nonsyndromic retinitis pigmentosa (RP; see 268000), BCD accounted for approximately 3% of all nonsyndromic RP and 10% of nonsyndromic autosomal recessive RP.
Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.
Strong criticism of DAMP, however, has continued. [3] [7] [8] In particular, it has been observed that "the validity and utility of DAMP will remain unclear until stronger evidence of the special status of the overlap between its constituent disorders is provided". [3] In 2005, there was an hour-long television program broadcast on Swedish TV, questioning why Sweden, almost alone in the world, would accept the DAMP construct. [9] The program featured critical commentary from Sir Michael Rutter.
Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic. Epidemiology The prevalence is unknown but it accounts for approximately 3% of gastrointestinal tumors and 10-15% of all hepatobiliary malignancies. Clinical description CCA can occur in the intra or extra-hepatic biliary tract. A specific type of extra-hepatic CCA known as a Klatskin tumor (see this term) occurs at the junction where the left and right hepatic bile ducts meet the common bile duct (CBD). It is slightly more prevalent in males than females (1.3:1.0) and usually presents in the fifth to seventh decade of life.
Description Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology. Cholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas.
One study found that AjD sufferers received similar interventions to those with other psychiatric diagnoses, including psychological therapy and medication. [19] In addition to professional help, parents and caregivers can help their children with their difficulty adjusting by: [20] offering encouragement to talk about their emotions; offering support and understanding; reassuring the child that their reactions are normal; involving the child's teachers to check on their progress in school; letting the child make simple decisions at home, such as what to eat for dinner or what show to watch on TV; having the child engage in a hobby or activity they enjoy. ... Psychiatry . 5 (7): 240–242. doi : 10.1053/j.mppsy.2006.04.004 . ^ Bronish, T., & Hecht, H. (1989). Validity of adjustment disorder, comparison with major depression. ... Archives of General Psychiatry . 35 (3): 279–82. doi : 10.1001/archpsyc.1978.01770270029002 . PMID 727886 . ^ Baumeister, H., & Kufner, K. (2009). It is time to adjust the adjustment disorder category.
An article in Dagens Nyheter stated that Tamas' credibility can be questioned. [32] Tamas was reported by the governments' state experts Marie Hessler and Nader Ahmadi to the Granskningsnämnden för radio och TV (the investigation committee for radio and TV) for having intentionally distorted the commentary of several participants in the Swedish television program Uppdrag Granskning's episode of "The Toying of the Apathetic". [33] Thomas Jackson stated in lectures for healthcare staff and in his publications that Tamas' book was dangerous for apathetic refugee children as he spread rumors that the national agencies had, in turn, spread rumors that the children were simulating. [34] According to an article published by DTMedia, reporters Gellert Tamas and Janne Josefsson did not listen to the criteria for forced simulation which Jackson presented in his participation on Uppdrag Granskning . [35] Government investigation [ edit ] According to Nader Ahmadi, the research leader of the state investigation SOU:2006, in some cultures, children could be used "holistically" for the survival of the family. [36] [37] [38] Ahmadi has also stated in an article by Gefle Blad that "manipulation, simulation and poisoning of the children is not impossible". [39] Most children were from former Soviet republics and former Yugoslavia. [40] Marie Hessler, head of the Stockholm County Council's child psychiatry unit, stated that she had never witnessed any similar cases in the neighboring Nordic countries. [41] Hessler was heavily criticized in the fevered debate for her neutrality by the Liberals , the Center Party and the Christian Democrats . [42] In 2005, there was a case of a severely depressed boy who faced deportation and the Swedish humanitarian organizations demanded he be granted permanent residence. ... Originally published by News24). Robert H. McKinney School of Law. Indiana University. ... Retrieved 15 July 2019 . ^ Sejersen, Thomas; Wang, Ching H. (2013). Acute Pediatric Neurology .
He was found dead with the nozzle still inserted in his anus and connected to an enema bag that hung from a coat rack next to his bed. [3] References [ edit ] ^ "Teens using vodka tampons to get drunk" . KPHO-TV . 7 November 2011. ^ Lovett, Edward; McNiff, Eamon (2012-09-21). "5 Shocking Ways Your Kids Try to Get Drunk" .
Retrieved 2011-06-05 . ^ a b c d e f g h "Three Russian tourists die in Turkish alcohol poisoning" . ... Sulfonic acids : Acamprosate Religion and alcohol Christian views on alcohol alcohol in the Bible Islam and alcohol History Bratt System Related Index of alcohol-related articles Austrian syndrome Ban on caffeinated alcoholic beverages Brief intervention Gateway drug effect Last call Mood disorder Non-alcoholic fatty liver disease Self-medication Spins Sober companion Sober living houses Sobering center Town drunk Category v t e Turkey topics History Overview Renaissance (1400-1500) Conquest of Constantinople Early modern period (1500-1750) Sultanate of Women Köprülü era Tulip era Late modern period (1750-1923) Tanzimat Ottoman Reform Edict of 1856 First Constitutional Era Second Constitutional Era Partition Contemporary period (1923-present) War of Independence One-party period Multi-party period By topic Constitutional Economic Empire Foreign relations 1814–1919 Military Society and its environment Overview Climate Boundaries Geology Landform regions By topic Education Language reform Health and welfare Individual, family and gender relations LGBT rights Marriage Status of women Population Population distribution and settlement in Turkey Migration Government policies Religious life Economy Overview Growth of the economy Development planning Economic development Foreign economic relations Foreign trade Regional economic integration By sector Agriculture Industry Construction Energy Mineral resources Services Banking and Finance Transportation and Telecommunications Tourism Government and politics The constitutional system Provisions Electoral system Government Parliament President Council of Ministers Prime minister Judiciary Constitutional Court Court of Cassation Political Dynamics Political parties Mass media Newspapers and periodicals Radio and television Foreign relations National security in Turkey External security concerns Middle Eastern conflicts Syria Iran Greece and Cyprus Military Participation in NATO Defense spending Sources and quality of personnel Education and training Air Force Navy Uniforms, ranks, and insignia Domestic arms industry Internal security concerns Kurdish separatism Armenian terrorism Islamists Police system National Police Gendarmerie Intelligence Services Individual rights Culture Architecture Ottoman architecture Art Cinema Cuisine wine Dance Festivals Folklore Languages Turkish Literature Media Newspapers Radio stations TV Music Names Theater Category Portal WikiProject
Symptoms [ edit ] Symptoms of prosopamnesia may include: Difficulty recognizing people, especially when encountered outside of the previous or familiar context Use of non-facial cues such as hair, gait, or glasses to identify people Requiring many times of meeting people before being able to remember their names Trouble keeping track of characters in movies or TV shows Social anxiety Having a memory for the faces of people encountered before the brain damage occurred (acquired case only) [2] Cause [ edit ] Prosopamnesia can be either genetically inherited (developmental) [3] or acquired as a result of incidental brain damage. [4] The exact cause of prosopamnesia is unverified, because there are only two known cases. ... Neurol Clin, 21(2), 521-548. ^ Davis, J. M., McKone, E., Dennett, H., O'Connor, K. B., O'Kearney, R., & Palermo, R. (2011).
Dwarfism is depicted in many books, films, and TV series such as Willow , The Wild Wild West , The Man with the Golden Gun (and later parodied in Austin Powers ), Gulliver's Travels by Jonathan Swift , [44] The Wizard of Oz , Willy Wonka & the Chocolate Factory , Bad Santa , A Son of the Circus , Little People, Big World , The Little Couple , A Song of Ice and Fire (and its TV adaptation Game of Thrones ), Seinfeld , The Orator , In Bruges , The Tin Drum by Günter Grass , the short-lived reality show The Littlest Groom , and the films The Station Agent and Zero . The Animal Planet TV series Pit Boss features dwarf actor Shorty Rossi and his talent agency, "Shortywood Productions", which Rossi uses to provide funding for his pit bull rescue operation, "Shorty's Rescue".
Overview Dwarfism is short stature that results from a genetic or medical condition. Dwarfism is generally defined as an adult height of 4 feet 10 inches (147 centimeters) or less. The average adult height among people with dwarfism is 4 feet (122 cm). Many different medical conditions cause dwarfism. In general, the disorders are divided into two broad categories: Disproportionate dwarfism. If body size is disproportionate, some parts of the body are small, and others are of average size or above-average size.
Season 2 episode 3 of television series Legion references the plague in a list of strange occurrences as examples of "conversion disorders". Season 1 episode 10 of TV series Evil talks about the plague in an episode centered around an epidemic of singing or humming a particular song. ... Hillsdale, NJ: Erlbaum. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar Bartholomew. ^ a b c d e f g h i j Dirk Blom. ^ a b c d e Waller J (February 2009). ... Retrieved 4 September 2010 . ^ a b c d e f g h i j k l m n o p q r s t u v Midelfort. ^ a b c d e Marks. ^ "NINDS Sydenham Chorea Information Page" . ... ISBN 978-1-4191-5424-9 . Midelfort, H. C. Erik (2000). A History of Madness in Sixteenth-Century Germany .
ISSN 1059-924X . PMID 30047854 . ^ a b c d e f g h "CDC - NIOSH Publications and Products - Musculoskeletal Disorders and Workplace Factors (97-141)" . www.cdc.gov . 1997. doi : 10.26616/NIOSHPUB97141 . hdl : 2027/coo.31924078629387 . ... Retrieved 2016-03-24 . ^ a b Kuorinka, I.; Jonsson, B.; Kilbom, A.; Vinterberg, H.; Biering-Sørensen, F.; Andersson, G.; Jørgensen, K. (1987). ... Washington, DC: American Psychological Association. ^ Barriera-Viruet H.; Sobeih T. M.; Daraiseh N.; Salem S. (2006). ... Retrieved 2016-04-07 . ^ Courvoisier DS, Genevay S, Cedraschi C, Bessire N, Griesser-Delacretaz AC, Monnin D, Perneger TV (July 2011). "Job strain, work characteristics and back pain: a study in a university hospital" .
PMID 26185942 . S2CID 25397379 . ^ a b Allen, J H; De Moore, GM; Heddle, R; Twartz, JC (2004). ... PMC 2658859 . PMID 19291829 . ^ a b c d e f g h i Ruffle, James K.; Bajgoric, Sanjin; Samra, Kiran; Chandrapalan, Subashini; Aziz, Qasim; Farmer, Adam D. ... PMID 26445382 . S2CID 23685653 . ^ a b c d e f g h i j k l m n o p q r s Galli, JA; Sawaya, RA; Friedenberg, FK (December 2011). ... PMC 3576702 . PMID 22150623 . ^ a b c d e f g h i j k l Sun, S; Zimmermann, AE (September 2013). ... PMID 9165553 . ^ Simonetto, Douglas A.; Oxentenko, Amy S.; Herman, Margot L.; Szostek, Jason H. (2012). "Cannabinoid Hyperemesis: A Case Series of 98 Patients" .
Archived from the original on 2017-09-08. ^ a b c d e f g h i j k l m n o p q r s t u v w x Barker AF, Bergeron A, Rom WN, Hertz MI (May 2014). ... Retrieved 2016-08-18 . ^ a b c d e f g h i j k l m n o p q Aguilar PR, Michelson AP, Isakow W (February 2016). ... Jornal Brasileiro De Pneumologia . 38 (4): 533–4. doi : 10.1590/S1806-37132012000400018 . PMID 22964940 . ^ Bunawan H, Bunawan SN, Baharum SN, Noor NM (2015). ... PMC 3061253 . PMID 21126596 . ^ a b Yadav H, Peters SG, Keogh KA, Hogan WJ, Erwin PJ, West CP, Kennedy CC (December 2016). ... PMC 5116253 . PMID 27575542 . ^ Colby TV (January 1998). "Bronchiolitis. Pathologic considerations" .
Bronchiolitis obliterans is an inflammatory condition that affects the lung's tiniest airways, the bronchioles. In affected people, the bronchioles may become damaged and inflamed leading to extensive scarring that blocks the airways. Signs and symptoms of the condition include a dry cough; shortness of breath; and/or fatigue and wheezing in the absence of a cold or asthma. Many different chemicals (such as nitrogen oxides, ammonia, welding fumes or food flavoring fumes) and respiratory infections can cause lung injury that leads to bronchiolitis obliterans. It can also be associated with rheumatoid arthritis and graft-versus-host disease following a lung or hematopoietic cell transplantation .
Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.
Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited disease that affects the brain and muscles. People with this disease may begin showing symptoms from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, recurrent seizures (epilepsy), problems with speech, and involuntary movements. People with this disease may also have behavioral problems, including hyperactivity, autistic behaviors , and self-mutilation. GAMT deficiency is caused by changes (mutations) in the GAMT gene. The disease is inherited in an autosomal recessive manner.
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. Epidemiology Less than 100 patients are known worldwide. Clinical description Onset of manifestations of GAMT deficiency occurs between 3 months and 3 years of age. Affected individuals have mild to severe intellectual disability with a distinctive deficit in expressive language, regardless of the degree of the intellectual deficit. Seizures, of different types, are observed in most individuals and are often intractable. Behavioral disorders such as hyperactivity and autistic features are also frequent.
A number sign (#) is used with this entry because cerebral creatine deficiency syndrome-2 (CCDS2), also known as guanidinoacetate methyltransferase (GAMT) deficiency, is caused by homozygous or compound heterozygous mutation in the GAMT gene (601240) on chromosome 19p13. Description Guanidinoacetate methyltransferase deficiency, an autosomal recessive inborn error of creatine synthesis, is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids (summary by Schulze, 2003). For a general phenotypic description and a discussion of genetic heterogeneity of CCDS, see CCDS1 (300352). Clinical Features Stockler et al. (1994) reported a 22-month-old male infant with muscular hypotonia, progressive extrapyramidal movement disorder, an extremely low excretion of creatine, deficiency of creatine and creatine phosphate, and simultaneous accumulation of guanidinoacetate in brain, as detected by in vivo proton and phosphorus magnetic resonance spectroscopy. The clinical symptoms and biochemical abnormalities improved significantly after oral administration of creatine monohydrate.
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics.
