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]

A recent study found that imposter syndrome is present in both medical and nursing students. [nursingtimes.net]

The lack of present research into the underlying mechanisms means we are no closer to doing what we are passionate about as clinicians: to offer pain free, effective treatment to this exceptional cohort of patients. [nature.com]

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]

• Short Stature

  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). [ncbi.nlm.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]

  GARD: 19 A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral [malacards.org]

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

• Weight Gain

  Number one is weight train. [blog.ultimateperformance.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]

  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]

  All four participants that completed the diet had weight stabilization or weight loss. In the off-diet period, weight gain velocity was noted to be increased. [ojrd.biomedcentral.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]

• Fatigue

  […] with chronic fatigue syndrome. [nutritionj.biomedcentral.com]

  Chronic fatigue syndrome is characterised by extreme, persistent fatigue for six months or more with other problems with as muscle pain, headaches and poor memory. [telegraph.co.uk]

  Prof Steve Atkin of Hull and East Yorkshire NHS Trust said: "No one has examined the effects of chocolate on chronic fatigue syndrome before so this is a very exciting result for us." [dailymail.co.uk]

  "And then the degree of severe fatigue and post exertional symptoms, which is different from fatigue, which is a whole subset of symptoms that worsen whenever someone with long COVID tries to do either physical work, like climbing up a flight of stairs [wbur.org]

• Camping

  BSgarbossa criteria (1996)Argentinian, ArgentinaCardiologistChest Pain, Criteria FREY-GOTTESMAN, LucjaFrey syndrome (1923)18891942Poland, PolskaPhysicianhyperhidrosis, lemon, auriculotemporal syndrome, parotid gland, gun shot wound, jewish, concentration camp [litfl.com]

• Cough

  Arnold's nerve cough info... Arnold's neuralgia info... Arnold's neuralgia info... Arnold's reaction info... Arnold's test info... Arnozan's syndrome info... Aron's reaction info... Arruga's suture info... Arslan's ultrasonic operation info... [mt911.com]

  […] older, adolescents and adults; the most frequently reported AEs in the rufinamide treatment group (occurring in ≥10% of subjects) were upper respiratory tract infection and vomiting (28% each), pneumonia and somnolence (20% each), diarrhoea, pyrexia, cough [link.springer.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]

  […] 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 Large ears 0000400 Percent of people [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]

• Amenorrhea

  Hall type of pseudoachondroplasia1939USA, America, AmericanGeneticist and paediatricianPallister-Hall syndrome, achondroplasia FORBES, Anne PappenheimerForbes-Albright syndrome (1954)19111992USA, America, AmericanPhysician, endocrinologistgalactorrhea-amenorrhea [litfl.com]

  The diagnosis of PCOS for the comparison with the QBB was based on the NIH criteria of biochemical evidence of hyperandrogenemia (free androgen index >4.5) or a raised testosterone greater than 2.7nmol/l, and oligomenorrhea or amenorrhea. [journals.plos.org]

  […] and Methods The diagnosis of PCOS was based on all three diagnostic criteria of the Rotterdam consensus, namely clinical and biochemical evidence of hyperandrogenemia (Ferriman-Gallwey score >8; free androgen index >8, respectively), oligomenorrhea or amenorrhea [academic.oup.com]

• Hyperactivity

  Patients with Tourette Syndrome commonly have other conditions, like obsessive compulsive disorder (OCD) or attention deficit hyperactivity disorder (ADHD). Diagnosing and treating these conditions can be as important as treating the tics. [stgeorges.nhs.uk]

  ORPHA:399805 Atkin-Flaitz Syndrome Macroorchidism ORPHA:1193 X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome Elevated circulating growth hormone concentration, Macroorchidism ORPHA:85327 Intellectual Developmental Disorder, X-Linked [mousephenotype.org]

  There was a higher proportion of attention problems, hyperactivity, hypersensitivity/over reactivity, perseverative/obsessive compulsive behavior, and irritability/aggressive behavior/agitation/ self-injury among those with both FXS and ASD as compared [cdc.gov]

  The most frequent comorbidities are attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) [5]. [scholars.direct]

• Confusion

  Abstract Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for [neuro.unboundmedicine.com]

  The impostor syndrome is often confused with self-doubt. [blog.oxforddictionaries.com]

  He was in a “challenged” division Parrott created this year: “When Jon is onstage, I’ve given his trainer special approval to be down in front, hitting the poses so Jon can mimic him – just in case he gets confused.” It wasn’t necessary. [chicagotribune.com]

  Differing diagnostic criteria have contributed to the confusion regarding prevalence; for example, use of the Rotterdam criteria led to over twice the prevalence compared to that of the National Institute of Health (NIH) criteria for the diagnosis of [journals.plos.org]

  […] effect of saturated fat, at least in the absence of CHO control, is established [ 36, 37 ], it has been known since the Seven Countries study [ 38 ] that total dietary fat does not correlate with cardiovascular risk and the two effects should not be confused [nutritionandmetabolism.biomedcentral.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]

Clinical Testing and Workup Various imaging techniques can be used to identify and assess neurological complications including x-rays of the skull (skull radiography) or magnetic resonance imaging (MRI) with gadolinium. [rarediseases.org]

[…] received medical treatment. [scholars.direct]

Usually classical ketogenic diet (KD) is the standard treatment for patients with GLUT1-DS. [pubmed.ncbi.nlm.nih.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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]

Parents should talk to their child’s physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

[…] 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]

Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome. Journal of Molecular Graphics and Modelling. 2017; 76: 429-440. Stafstrom CE, Staedtke V, Comi. [rarediseases.org]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Numerous clinical and epidemiological studies have highlighted the fact that metabolic syndrome is an important precursor of cardiovascular disease. [revespcardiol.org]

She collaborates with a wide range of investigators using methodologies ranging from clinical trials to epidemiology to GWAS and other analyses of "Omics" data. [mayo.edu]

Epidemiology of sarcopenia among the elderly in New Mexico. Am J Epidemiol [Internet]. 1998;147(8):755–63. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9554417 Stenholm S, Harris TB, Rantanen T, Visser M, Kritchevsky SB, Ferrucci L. [revistas.uma.es]

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]

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]

Modified Atkins Diet for Tics Requiring Treatment in Tourette Syndrome: A Randomized Controlled Trial of Early Versus Late Initiation Abstract Increased dopamine activity is thought to play a role in the pathophysiology of Tourette syndrome (TS). [scholars.direct]

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]

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]

[…] and promoting research.1,2 To achieve these goals, strengthening prevention of CVD is currently a priority area in Australia and across the world.2,3 Secondary prevention strategies target individuals with existing disease and aim to reduce their risk [phrp.com.au]

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]

These things are really going to help with insulin sensitivity and preventing the kind of unwanted fat gain from insulin resistance and PCOS. You can supplement with anything that’s going to help to reduce pain and inflammation. [blog.ultimateperformance.com]