The males also presented with postpubertal macroorchidism. Transmission is X-linked.Visit the Orphanet disease page for more resources. [malacards.org]

Synonym(s): X-linked intellectual disability, Atkin type Prevalence: <1 / 1 000 000 Inheritance: X-linked dominant Age of onset: Neonatal ICD-10: Q87.8 OMIM: 300431 UMLS: C0796206 MeSH: - GARD: 3537 MedDRA: - The documents contained in this web site are presented [orpha.net]

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]

The males also presented with postpubertal macroorchidism. Transmission is X-linked. Visit the Orphanet disease page for more resources. [rareguru.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]

• Short Stature

  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]

  Orpha Number: 1193 Definition A rare syndrome characterised by moderate to severe intellectual deficit, short 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]

  Homepage Rare diseases Search Search for a rare disease Disease definition A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead [orpha.net]

• Weight Gain

  The overall objective is to explore the mechanisms by which macronutrients regulate food intake and weight gain in Prader Willi Syndrome (PWS). [clinicaltrials.gov]

  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 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]

• Microdontia

  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]

  […] 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

  Prominent/Broad forehead Supraorbital ridges Wide-set eyes Broad nose tip Anteverted nostrils Small jaw Thick lips Prominent eyebrows Short stature Large head Obesity Large testes Gap in front teeth Small teeth Loose joints Seizures Causes - Atkin syndrome [checkorphan.org]

• Abnormal Eye Movement

  […] episodic eye movements or infantile seizures. [onlinelibrary.wiley.com]

• Thick Lips

  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]

  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]

  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]

  lips prominent lower lip Skeletal Limbs: genu valga genu recurvata Neurologic Central Nervous System: seizures mental retardation, moderate to severe mental retardation, mild (carrier females) Head And Neck Face: coarse facial features prominent forehead [malacards.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]

• 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]

• Profound Intellectual Disability

  Their cognitive function ranged from mild to profound intellectual disability. The ratio of cerebrospinal fluid to blood glucose ranged from 0.29 to 0.45. [onlinelibrary.wiley.com]

• 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]

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]

Treatment - Atkin syndrome Not supplied. Resources - Atkin syndrome [checkorphan.org]

So far, the KD is the treatment of choice in cases of Glucose transporter 1 deficiency syndrome (GLUT1DS). [thieme-connect.com]

Treatment Allows Immune System to Rebuild Itself Atkins’ treatment takes stem cells from the patient’s body, uses chemotherapy to wipe out the immune system and then transplants the purified stem cells back, allowing a new immune system to grow. [caho-hospitals.com]

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]

“They assist our police department with crime prevention presentations, role playing at the police academy (which helps mold the minds of young recruits), and playing the role of the National Crime Prevention Council’s McGruff the Crime Dog®,” Atkins [inclusionevolution.com]

Preventive (prophylactic) treatment of migraines and headaches may be recommended and may include medications such as propranolol or verapamil. [rarediseases.org]

In extreme cases the disease prevents people from moving and walking, and leaves them bedridden. But now, Dr. [ohri.ca]