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 Large head Obesity Large testes Gap in front teeth Small teeth Loose joints Seizures Causes - Atkin syndrome Not supplied. [checkorphan.org]

  stature, macrocephaly, and characteristic facies. [malacards.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]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [rarediseases.oscar.ncsu.edu]

• 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]

  facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280 4 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336 5 macroorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000053 6 thick vermilion border [malacards.org]

• 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]

  0000232 9 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513 10 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337 11 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455 12 maxillary lateral incisor microdontia [malacards.org]

  […] intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia [orpha.net]

  […] patient's mother and sister, who were of normal intelligence and had normally spaced eyes, both had a gap between their central upper incisors and a large forehead; the sister also had prominent supraorbital ridges, a broad nasal tip, thick lower lip, and microdontia [findzebra.com]

• Small Teeth

  teeth Loose joints Seizures Causes - Atkin syndrome Not supplied. [checkorphan.org]

• 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]

  HP:0000337 11 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455 12 maxillary lateral incisor microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001593 13 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316 14 macrotia [malacards.org]

• 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]

  Clark and Baraitser (1987) described 2 mentally retarded brothers who also had macrocephaly, 'square' forehead, prominent supraorbital ridges, broad nasal tip, prominent lower lip, large ears, obesity, and macroorchidism. [findzebra.com]

• 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]

  Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. [rarediseases.oscar.ncsu.edu]

• 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]

  These include short stature, macrocephaly, “coarse” facial appearance including prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, and thick lips. [onlinelibrary.wiley.com]

• 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]

• Spastic Paraplegia

  paraplegia syndrome; goltz syndrome; graham anophthalmia syndrome; gustavson syndrome; hall orofacial syndrome; hereditary bullous dystrophy, x-linked; holmes-gang syndrome (see also atrx-associated xlid); homfray seizures-contractures; hyde-forster [terkko.helsinki.fi]

  […] nystagmus a Horizontal or rotatory nystagmus a Opsoclonus a Epilepsy Age at onset (y:mo) 2:10 0:7 0:4 2 1:9 0:2 Initial seizure type PS AS MS a MS PS MS a Present seizure types AA AS, Ab AA Ab PS Other paroxysmal events Somnolence, dyskinesia, ataxia, spastic [onlinelibrary.wiley.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]

• 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]

• 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]

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 - 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]

Natural History, Complications, Prognosis It is common in infants, but is usually self-corrected during growth, due to the jaws increasing in size. It may be a cause of abnormal tooth alignment and in severe cases can cause hamper feeding. [wikidoc.org]

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]

[…] intellectual disability with plagiocephaly syndrome X-linked intellectual disability with seizure and psoriasis syndrome INTELLECTUAL DISABILITY-. subnormal intellectual functioning which originates during the developmental period. this has multiple potential etiologies [icdlist.com]

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]

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]

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]

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]