Women have an earlier age of onset, often presenting in the second or third decades of life, whereas men typically present in the sixth decade. [doctorlib.info]

Slide 1 Everything You Need To Know About Content Marketing Hana Abaza, Director of Marketing at Uberflip @hanaabaza 1 WHY IT’S HOT Authoring – Create your content.… All About Beer PowerPoint Presentation Text Me: Do's & Don'ts of Presentation Design [docslide.net]

JS may present during the neonatal period [ 10 ]. Hypotonia of variable severity is present in almost all patients. [cerebellumandataxias.biomedcentral.com]

In the present report we describe the findings in a large family with heterogenous presentation of anterior segment dysgenesis accompanied in some individuals by cerebral vascular disease. The family was first reported in 1981. [entokey.com]

Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported. [orpha.net]

• Feeding Difficulties

  Respiratory insufficiency Kyphosis Respiratory failure Nevus Congenital muscular dystrophy Distal muscle weakness Dilated cardiomyopathy Diaphragmatic weakness Elbow flexion contracture Distal amyotrophy Skeletal muscle atrophy Pain Rimmed vacuoles Feeding [mendelian.co]

  At 2 months, feeding difficulties were noticed. He had just started to smile. He had full conjugate eye movements, although visual following was limited. [jamanetwork.com]

  MDDGA14 features include increased CC muscle tone, microcephaly, cleft palate, feeding difficulties, CC severe muscle weakness, sensorineural hearing loss, cerebellar CC hypoplasia, ataxia, and retinal dysfunction. CC {ECO:0000269|PubMed:23768512}. [genome.jp]

  Pompe’s disease is the infantile form that presents in the first few months of life with difficulty feeding, cyanosis, dyspnea, macroglossia, hepatomegaly, cardiomegaly, and hypotonic weakness. [doctorlib.info]

  Difficulties, and Delayed Brain Myelination 1 Neurodevelopmental Disorder with Involuntary Movements 1 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 1 Neuroferritinopathy 1 Neurofibromatosis, Familial Spinal 2 Neurofibromatosis [preventiongenetics.com]

• Failure to Thrive

  […] to thrive Short neck Sensorineural hearing impairment Edema Obstructive sleep apnea Hyperhidrosis Micrognathia Onset Stridor Feeding difficulties in infancy Neonatal hypotonia Joint laxity Urinary urgency Sleep apnea Protruding ear Down-sloping shoulders [mendelian.co]

  The neonatal phenotype is quite different and includes failure to thrive, weight loss, weakness, hypotonia, and acquired microcephaly [ 57, 58 ]. Patients may have a patent ductus arteriosus and evidence of multiple organ failure. [cerebellumandataxias.biomedcentral.com]

• Heart Disease

  E-2689 157 Neurologic Disorders in Children with Heart Disease E-2723 158 Neurologic Disorders Associated with Renal Diseases E-2748 159 Neurologic Disorders Associated with Gastrointestinal Diseases E-2785 160 Counseling Children with Neurologic Disorders [books.google.com]

  Congenital heart disease The most commonly observed are congenital obstructive lesions of the left side of the heart, leading to reduced flow on this side of the heart. This includes bicuspid aortic valve and coarctation (narrowing) of the aorta. [checkrare.com]

  Disrupting circadian rhythms can also lead to heart diseases, neurodegenerative conditions, and cancer [ R ]. People with brain fog are often wired but tired at night, fatigued in the day, and lack a cortisol spike in the AM. [selfhacked.com]

  0, Liver 3 Glycogen Storage Disease 0, Muscle 2 Glycogen Storage Disease Of Heart, Lethal Congenital 4 Glycogen Storage Disease Type Ia 3 Glycogen Storage Disease Type Ib 3 Glycogen Storage Disease Type Ic 3 Glycogen Storage Disease Type II 10 Glycogen [preventiongenetics.com]

• Abnormal Gait

  0003457 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Glaucoma 0000501 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Myopathy Muscle tissue disease 0003198 Myopia Close sighted Near sighted Near sightedness [rarediseases.info.nih.gov]

  Neurological sequelae include motor dysfunction in 48 % (hypotonia in 100 %, abnormal gait in 37 %, and ocular motor abnormalities in 23 %), expressive and receptive language dysfunction in 37 % to 42 %, and neurocognitive dysfunction in 40 % of children [cerebellumandataxias.biomedcentral.com]

  Gait 3 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 4 Merosin Deficient Congenital Muscular Dystrophy 5 Metachondromatosis 1 Metachromatic Leukodystrophy 2 Metaphyseal Anadysplasia 2 1 Metaphyseal Chondrodysplasia, Jansen Type 1 Metaphyseal [preventiongenetics.com]

• Global Developmental Delay

  A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013 ). [mendelian.co]

  They also have developmental delay and intellectual disability, a buildup of fluid in the brain ( hydrocephalus ), and distinctive facial features. [rarediseases.info.nih.gov]

Treatment: HLH is currently treated with a protocol or treatment program called HLH-2004. This program was created by an international team of doctors in 2004 to attempt to address the poor survival rates of patients with HLH. [hlhjournal.com]

Treatment: Identifying and treating the causative lesion, thus preventing re-bleeding. [medigoo.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms. [checkrare.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis in neonates is generally poor, but depends on the histological type, extension of the tumor, and involvement of adjacent structures. [cerebellumandataxias.biomedcentral.com]

The prognosis for MEB varies depending on the severity of the condition. [4] Some individuals only experience congenital muscular dystrophy; however, most additionally have severe vision loss and intellectual disability. [1] Last updated: 11/11/2016 If [rarediseases.info.nih.gov]

Most of these significant conditions are treatable with surgery and medication. [14] Prenatal Despite the excellent postnatal prognosis, 99% of Turner-syndrome conceptions are thought to end in miscarriage or stillbirth, [15] and as many as 15% of all [checkrare.com]

Williams RS, Swisher CN, Jennings M, Ambler M, Caviness VS Jr (1984) Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis. Neurology 34:1531–1541 Google Scholar Copyright information Authors and Affiliations K. [link.springer.com]

Brainstem disconnection (BD) BD is an extremely rare abnormality of unknown etiology. All children are symptomatic at birth. [cerebellumandataxias.biomedcentral.com]

The etiology of POTS is unclear; it is more common in females, and symptoms worsen around menses, suggesting a role for estrogen in the pathophysiology. [doctorlib.info]

[…] an embryo, which is carried by the Turner syndrome woman. [44] Uterine maturity is positively associated with years of estrogen use, history of spontaneous menarche, and negatively associated with the lack of current hormone replacement therapy. [47] Epidemiology [checkrare.com]

The etiology of POTS is unclear; it is more common in females, and symptoms worsen around menses, suggesting a role for estrogen in the pathophysiology. [doctorlib.info]

Preventing cerebral vasospasm - to prevent blood vessels near the ruptured aneurysm from going into spasm, the patient may be given nimodipine for about three weeks. [medigoo.com]

Published monthly on behalf of the Royal College of Psychiatrists, the journal is committed to improving the prevention, investigation, diagnosis, treatment, and care of mental illness, as well as the promotion of mental health globally. [bjp.rcpsych.org]

Balance work is very important for fall prevention too. Basic strength exercise can also help with flexibility, cardiorespiratory function and ease arthritis pain.” [healthbreakingnews.net]

To prevent microbial imbalance or dysbiosis, the gut needs the right ingredients to work well (like prebiotics), which is also why the right foods matter. Probiotics can also be great at helping to modify inflammation. [selfhacked.com]

While very few women with Turner Syndrome menstruate spontaneously, estrogen therapy requires a regular shedding of the uterine lining (“withdrawal bleeding”) to prevent its overgrowth. [checkrare.com]