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Atkin Syndrome

Atkin-Flaitz Syndrome


Presentation

  • The males also presented with postpubertal macroorchidism. Transmission is X-linked.Visit the Orphanet disease page for more resources.[malacards.org]
  • Moreover, in a relatively short time, 8 of the kids with metabolic syndrome moved on to full-blown Type 2 diabetes The point is, there is no time like the present to begin the process of reversing insulin resistance.[atkins.com]
  • It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice.[whonamedit.com]
  • Acknowledgements This study was presented at the International Symposium on Epilepsy in Neurometabolic Diseases held in Taipei, Taiwan in March 2010.[onlinelibrary.wiley.com]
  • New findings are presented on fat cells, including the fact that they are beginning to be considered as endocrine cells. There is a substantive discussion of leptin, which is one of the important adipocytokines.[books.google.com]
Short Stature
  • stature, macrocephaly, and characteristic facies.[malacards.org]
  • stature Large head Obesity Large testes Gap in front teeth Small teeth Loose joints Seizures Causes - Atkin syndrome Not supplied.[checkorphan.org]
  • Orpha Number: 1193 Disease definition Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature , macrocephaly, and characteristic facies.[rarediseases.info.nih.gov]
Weight Gain
  • By losing weight or avoiding weight gain, these children can lower their risk of CHD and diabetes. It’s time to take the gloves off in the war against obesity and its close cousin, metabolic syndrome.[atkins.com]
  • The overall objective is to explore the mechanisms by which macronutrients regulate food intake and weight gain in Prader Willi Syndrome (PWS).[clinicaltrials.gov]
  • The book refers a lot of Syndrome X as a key cause of weight gain. This is the name first coined in the late 1980's but is now referred to as the Metabolic Syndrome.[foodwatch.com.au]
  • Diet & Nutrition Carbohydrates: Your Body’s Most Important Source of Fuel Many fad diets give carbohydrates a bad rap, leading you to believe that they're the villain behind unwanted weight gain and a host of other problems....[everydayhealth.com]
  • Longitudinal weight gain in women identified with polycystic ovary syndrome: results of an observational study in young women. Obesity (Silver Spring). 2013;21(8):1526–32. pmid:23818329. View Article PubMed/NCBI Google Scholar 3.[journals.plos.org]
Coarse Facial Features
  • Abstract We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers.[ncbi.nlm.nih.gov]
  • Symptoms - Atkin syndrome Abnormality of the teeth Anteverted nares Coarse facial features Cognitive impairment Everted lower lip vermilion Macrocephaly Macroorchidism Prominent supraorbital ridges Thick lower lip vermilion Mental retardation Coarse face[checkorphan.org]
  • facial features Coarse facial appearance 0000280 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation[rarediseases.info.nih.gov]
Noncompliance
  • One girl switched to classical KD after 21 months in spite of seizure reduction, but the noncompliance did not allow for satisfying, better effects than under MAD. Six children are still treated with an MAD.[thieme-connect.com]
Microdontia
  • […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Macroorchidism Large testis 0000053 Maxillary lateral incisor microdontia[rarediseases.info.nih.gov]
Small Teeth
Abnormal Eye Movement
  • ., 5 and is characterized by early-onset epilepsy, developmental delay, spasticity, ataxia, dystonia, and other paroxysmal phenomena such as abnormal eye movements. 1–4 The diagnosis of this disorder is suggested by an aggravation of these neurological[onlinelibrary.wiley.com]
Large Ears
  • ears 0000400 Percent of people who have these symptoms is not available through HPO Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Exaggerated median[rarediseases.info.nih.gov]
Macrotia
  • […] height Small stature [ more ] 0004322 Thick vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 30%-79% of people have these symptoms Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Macrotia[rarediseases.info.nih.gov]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Thick vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 30%-79% of people have these symptoms Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316[rarediseases.info.nih.gov]
Thick Lips
  • lips Prominent eyebrows Short stature Large head Obesity Large testes Gap in front teeth Small teeth Loose joints Seizures Causes - Atkin syndrome Not supplied.[checkorphan.org]
  • Smith A familial syndrome of X-chromosomal mental retardation associated with coarse facies, characterized by prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, micrognathia, and thick lips.[whonamedit.com]
  • lips [ more ] 0012471 30%-79% of people have these symptoms Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Macrotia Large ears 0000400 Percent of people who have these symptoms is not available through HPO Broad palm Broad hand Broad[rarediseases.info.nih.gov]
Thick Lips
  • lips Prominent eyebrows Short stature Large head Obesity Large testes Gap in front teeth Small teeth Loose joints Seizures Causes - Atkin syndrome Not supplied.[checkorphan.org]
  • Smith A familial syndrome of X-chromosomal mental retardation associated with coarse facies, characterized by prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, micrognathia, and thick lips.[whonamedit.com]
  • lips [ more ] 0012471 30%-79% of people have these symptoms Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Macrotia Large ears 0000400 Percent of people who have these symptoms is not available through HPO Broad palm Broad hand Broad[rarediseases.info.nih.gov]
Frontal Bossing
  • bossing 0002007 Genu recurvatum Back knee Knee hyperextension [ more ] 0002816 Genu valgum Knock knees 0002857 Heavy supraorbital ridges Heavy brow of the face 0002054 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive[rarediseases.info.nih.gov]
Coarse Face
  • Symptoms - Atkin syndrome Abnormality of the teeth Anteverted nares Coarse facial features Cognitive impairment Everted lower lip vermilion Macrocephaly Macroorchidism Prominent supraorbital ridges Thick lower lip vermilion Mental retardation Coarse face[checkorphan.org]
Coarse Face
  • Symptoms - Atkin syndrome Abnormality of the teeth Anteverted nares Coarse facial features Cognitive impairment Everted lower lip vermilion Macrocephaly Macroorchidism Prominent supraorbital ridges Thick lower lip vermilion Mental retardation Coarse face[checkorphan.org]
Sexual Dysfunction
  • Metabolic Syndrome is a major risk factor in Major Depression, Alzheimer's Disease, Sleep Disorders, Sexual Dysfunction, Fibromyalgia, and several other illnesses of psychiatric significance.[books.google.com]
Slurred Speech
  • Their slurred speech became articulate and audible, and vocabulary and multiword sentences increased, leading to conversations.[onlinelibrary.wiley.com]
Dysarthria
  • Non-paroxysmal permanent ataxia, spasticity, dysarthria, and dystonia were moderately improved in four individuals and slightly improved in the remaining two.[onlinelibrary.wiley.com]
Spastic Gait
  • Neurological status (including ataxia, spasticity, gait disturbance, kinetic dystonia, and slurred speech) was also rated by neurological examination as worse, no change, improved, or markedly improved.[onlinelibrary.wiley.com]
Perseveration
  • They all showed increased concentration in terms of attention, thinking, and listening, and motivation eliciting a positive attitude and perseverance. This improvement was documented before the reduction of antiepileptic drugs.[onlinelibrary.wiley.com]
Cerebellar Ataxia
  • ataxia Dysarthria Intellectual disability Mild Severe Severe Mild to moderate Severe Profound Precipitating factors Fat, Ex, HD, CZP, Tri Fas, HD, weekend, PB Ba, Fas, Fat, Fe, HD Fas, Fe Fas, Fe, Theo, Tri Fas, PB Alleviating factors Ea, sleep Ea, sleep[onlinelibrary.wiley.com]

Workup

EEG Normal
  • The isolated movement disorder resolved in one of six patients and three of six patients showed a sustaining EEG normalization. AED were completely stopped in two of six leading to a reappearance of interictal spikes in one.[thieme-connect.com]

Treatment

  • Use of the modified Atkins diet for treatment of refractory childhood epilepsy: a randomized controlled trial. Epilepsia. 2013;54:481-486. Kim JA, Yoon JR, Lee EJ, et al.[neurologyadvisor.com]
  • Thus, MAD treatment is promising for individuals with GLUT1-DS and their families.[onlinelibrary.wiley.com]
  • So far, the KD is the treatment of choice in cases of Glucose transporter 1 deficiency syndrome (GLUT1DS).[thieme-connect.com]
  • The key differences in the implementation of the "modified Atkins" epilepsy treatment include no fluid or calorie restriction, an encouragement of fat intake without restrictions on proteins, and parents and patients don't have to weigh and measure the[doosesyndrome.org]
  • Treatment - Atkin syndrome Not supplied. Resources - Atkin syndrome[checkorphan.org]

Prognosis

  • Prognosis - Atkin syndrome Not supplied. Treatment - Atkin syndrome Not supplied. Resources - Atkin syndrome[checkorphan.org]
  • Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. Neuropediatrics. 2002;33:122-132. Caraballo RH, Cersosimo RO, Sakr D, et al. Ketogenic diet in patients with myoclonic-astatic epilepsy.[neurologyadvisor.com]
  • Kim HJ, Kim HD, Lee JS, Heo K, Kim DS, Kang HC (2015) Long-term prognosis of patients with Lennox-Gastaut syndrome in recent decades. Epilepsy Res. 110:10-9.[matthewsfriends.org]
  • HU6 7RX, UK (3) Department of Chemistry, University of Hull, Cottingham Road, Hull, HU67RX, UK (4) Academic Cardiology and Hull York Medical School, University of Hull, Cottingham Road, Hull, HU6 7RX, UK References Joyce J, Hotopf M, Wessely S: The prognosis[nutritionj.biomedcentral.com]

Etiology

  • View Article PubMed Google Scholar Pall ML, Satterlee JD: Elevated nitric oxide/peroxynitrite mechanism for the common etiology of multiple chemical sensitivity, chronic fatigue syndrome, and posttraumatic stress disorder.[nutritionj.biomedcentral.com]
  • Google Scholar Zammit VA: Insulin stimulation of hepatic triacylglycerol secretion in the insulin-replete state: implications for the etiology of peripheral insulin resistance. Ann N Y Acad Sci. 2002, 967: 52-65.[nutritionandmetabolism.biomedcentral.com]

Epidemiology

  • Numerous clinical and epidemiological studies have highlighted the fact that metabolic syndrome is an important precursor of cardiovascular disease.[revespcardiol.org]
  • Epidemiology of complex regional pain syndrome: a retrospective chart review of 134 patients. Pain 1999;80:539-544. Bacchini M, Vaienti E, Soncini G.[revistas.udc.es]
  • Effect of dietary fiber and protein intake on blood pressure: a review of epidemiologic evidence. Clin Exp Hypertens. 1999;21:785-96. [77] Heaney RP, Layman DK. Amount and type of protein influences bone health.[deutsche-apotheker-zeitung.de]
  • American Journal of Epidemiology. October 2012. The Latest in Diet & Nutrition Diet & Nutrition Meghan Markle Just Gave Birth![everydayhealth.com]
  • Variability in the measurement of C-reactive protein in healthy subjects: implications for reference intervals and epidemiological applications. Clin Chem 1997 ; 43 : 52 -58. Ockene IS, Matthews CE, Rifai N, Ridker PM, Reed G, Stanek E.[clinchem.aaccjnls.org]
Sex distribution
Age distribution

Pathophysiology

  • The author describes the actual mechanisms by which Metabolic Syndrome progresses and causes damage in the body, including the action of insulin and the pathophysiology of insulin resistance.[books.google.com]
  • Clinical features and pathophysiology of Complex Regional Pain Syndrome. Lancet Neurology 2011;10:637–648. Rewhorn MJ, Leung AH, Gillespie A et al. Incidence of Complex Regional Pain Syndrome after foot and ankle surgery.[revistas.udc.es]
  • Significantly lower 3rd ventricle, and relative intracranial CSF volumes, suggest that altered biophysical CSF properties underlie ST pathophysiology.[link.springer.com]
  • The underlying pathophysiology of PCOS is unclear and appears to be a combination of hyperandrogenism[ 8 ], insulin resistance and the factors that cause follicular arrest[ 9 ].[journals.plos.org]
  • The metabolic syndrome: definition, global impact, and pathophysiology. Nutr Clin Pract. 2009;24:560-77. [140] Prentice AM, Jebb SA. Fast foods, energy density and obesity: a possible mechanistic link. Obes Rev 2003;4:187-94. [141] Reaven GM.[deutsche-apotheker-zeitung.de]

Prevention

  • In addition, you'll learn how to: *Reduce the risk of many types of cancer *Prevent stroke *Prevent cardiovascular disease *Avoid adult onset diabetes--or reverse its effects *Cure arthritis Dr.[books.google.com]
  • Prevention - Atkin syndrome Not supplied. Diagnosis - Atkin syndrome Not supplied. Prognosis - Atkin syndrome Not supplied. Treatment - Atkin syndrome Not supplied. Resources - Atkin syndrome[checkorphan.org]
  • For more on how to prevent metabolic syndrome, see How to Reduce Your Risk for Metabolic Syndrome.[atkins.com]
  • The internal chatter is sometimes accompanied by a lack of confidence which can prevent you reaching your potential. Success also comes with its own trials. Many high achievers have an internal voice asking “did they really mean to promote me?”[cambridgewireless.co.uk]

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