The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

In 2012, he also published a rare case report on hypercalcemia as a presenting clinical manifestation of adenocarcinoma of the colon in World Journal of Oncology. [books.google.com]

Patients in the pediatric age group with atypical celiac disease present with short stature and iron deficiency anemia. [27] P. [annalsofian.org]

SCA29 presents at birth, or shortly, after with manifestations of very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. [bioportal.bioontology.org]

• Disability

  Ketoaciduria-intellectual disability-ataxia-deafness syndrome, Ketoaciduria-mental deficiency syndrome, RRS See more Don’t fight Richards-Rundle syndrome alone. [rareguru.com]

  Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [ncbi.nlm.nih.gov]

  Synonyms RRS Ataxia-deafness-retardation syndrome with ketoaciduria Familial ataxia-hypogonadism syndrome Ketoaciduria-mental deficiency syndrome Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketoaciduria - intellectual disability - ataxia [rarediseases.org]

• Inflammation

  Comprehensive in scope, this title begins with a look at normal anatomy and histology for each organ system...followed by discussions of the pathology of congenital anomalies, inflammations, non-neoplastic diseases and neoplasia. [books.google.com]

  Used to decrease inflammation and tissue damage which helps control bleeding in your lungs. Plasmapheresis. This is a process in which blood plasma is removed, cleaned of harmful antibodies, and then returned to your body. [springfieldclinic.staywellsolutionsonline.com]

  Williams Download Yoga’s Impact on Inflammation, Mood, and Fatigue in Breast Cancer Survivors: A Randomized Controlled Trial J. K. Kiecolt-Glaser, J. M. Bennett, R. Andridge, J. Peng, C. L. Shapiro, W. B. Malarkey, C. F. Emery, R. Layman, E. E. [yogaaustralia.org.au]

  Two cases, sister and brother, had diverticulae of the intestine and deterioration of the myenteric plexi, whereas two other patients had normal intestines, and one had chronic inflammation but intact plexi. [nature.com]

  The association between childhood emotional functioning and adulthood inflammation is modified by early-life socioeconomic status. Health Psychol. 2012 Jul; 31(4):413-22. PMID: 22329424; PMCID: PMC3810389. [connects.catalyst.harvard.edu]

• Swelling

  READ MORE| 'It's not a pretty sight': this Pretoria family suffers from a rare disease that causes them unbearable pain and heavy swelling “She also doesn’t have the pain and aches she did before at night after a day-long struggle to stay upright.” [news24.com]

  Granules and vacuoles were found in hepatic cells of another, and “cloudy swelling” in hepatic cells of a third. [nature.com]

• Male Hypogonadism

  MIM 308200 Gene The designation RUD syndrome was used for a congenital non-bullous ichthyosiform erythroderma (NBIE) with anemia, seizures, male hypogonadism, small stature, mental retardation, and retinitis pigmentosa. [vi.scribd.com]

  Hypogonadism with Mental Retardation and Skeletal Anomalies Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type Malignant Carcinoid Syndrome + Mallory-Weiss Syndrome Malouf Syndrome Mammary-Digital-Nail Syndrome Mandibular Hypoplasia [rgd.mcw.edu]

• Strabismus

  Strabismus MedGen UID: 21337 •Concept ID: C0038379 • Disease or Syndrome A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. [ncbi.nlm.nih.gov]

  High-arched foot 0001761 Pes planus Flat feet Flat foot [ more ] 0001763 Primary amenorrhea 0000786 Progressive Worsens with time 0003676 Sensorineural hearing impairment 0000407 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Strabismus [rarediseases.info.nih.gov]

• Dolichocephaly

  Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ] 0001268 30%-79% of people have these symptoms Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Ketonuria 0002919 5%-29% of people have these symptoms Dolichocephaly [rarediseases.info.nih.gov]

• Joint Stiffness

  stiffness Stiff joint Stiff joints [ more ] 0001387 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Reduced bone mineral density Low solidness and mass of the bones 0004349 Percent of people who have these symptoms is not available through [rarediseases.info.nih.gov]

• Muscular Atrophy

  Skeletal muscle atrophy Muscle atrophy, neurogenic, Neurogenic muscle atrophy, especially in the lower limbs, Muscle degeneration, Muscular atrophy, Muscle atrophy, Muscle hypotrophy, Neurogenic muscular atrophy, Muscle wasting, Amyotrophy involving the [rarediseases.oscar.ncsu.edu]

  Muscular atrophy MedGen UID: 892680 •Concept ID: C0541794 • Pathologic Function The presence of skeletal muscular atrophy (which is also known as amyotrophy). [ncbi.nlm.nih.gov]

  Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly and Mental Subnormality SPOAN syndrome spondylocarpotarsal synostosis syndrome Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type Spondyloepimetaphyseal Dysplasia, Genevieve [rgd.mcw.edu]

• Hearing Impairment

  impairment Sensorineural hearing loss disorder [ncbi.nlm.nih.gov]

  Showing of 31 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Ataxia 0001251 Distal amyotrophy Distal muscle wasting 0003693 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hearing impairment [rarediseases.info.nih.gov]

• Aggressive Behavior

  Aggressive behavior MedGen UID: 1375 •Concept ID: C0001807 • Individual Behavior Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself [ncbi.nlm.nih.gov]

  behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Areflexia Absent tendon reflexes 0001284 Atrophy of the spinal cord Degeneration of the spinal cord 0006827 Autosomal recessive inheritance 0000007 Global developmental delay 0001263 [rarediseases.info.nih.gov]

• Primary Amenorrhea

  Primary amenorrhea MedGen UID: 115918 •Concept ID: C0232939 • Disease or Syndrome Abnormally late or absent menarche in a female with normal secondary sexual characteristics. [ncbi.nlm.nih.gov]

  “Richards-Rundle Syndrome” In our body, the dis-ease, Richards-Rundle Syndrome is the allopathic name of a syndrome primary amenorrhea, with neurological manifestations of peripheral muscle wasting, nystagmus, dementia, mental retardation and associated [wellnessadvocate.com]

  Her secondary amenorrhea was atypical since most of the reported cases of AAHH, manifested by primary amenorrhea. [bjmg.edu.mk]

  amenorrhea 0000786 Progressive Worsens with time 0003676 Sensorineural hearing impairment 0000407 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes equinovarus [rarediseases.info.nih.gov]

• Amenorrhea

  Her secondary amenorrhea was atypical since most of the reported cases of AAHH, manifested by primary amenorrhea. [bjmg.edu.mk]

  Primary amenorrhea MedGen UID: 115918 •Concept ID: C0232939 • Disease or Syndrome Abnormally late or absent menarche in a female with normal secondary sexual characteristics. [ncbi.nlm.nih.gov]

  “Richards-Rundle Syndrome” In our body, the dis-ease, Richards-Rundle Syndrome is the allopathic name of a syndrome primary amenorrhea, with neurological manifestations of peripheral muscle wasting, nystagmus, dementia, mental retardation and associated [wellnessadvocate.com]

  […] disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Mutism Inability to speak Muteness [ more ] 0002300 Pes cavus High-arched foot 0001761 Pes planus Flat feet Flat foot [ more ] 0001763 Primary amenorrhea [rarediseases.info.nih.gov]

• Ataxia

  […] and cerebellar ataxia. [malacards.org]

  Synonyms RRS Ataxia-deafness-retardation syndrome with ketoaciduria Familial ataxia-hypogonadism syndrome Ketoaciduria-mental deficiency syndrome Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketoaciduria - intellectual disability - ataxia [rarediseases.org]

  About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Ataxia-deafness-retardation syndrome with ketoaciduria, Familial ataxia-hypogonadism syndrome, Ketoaciduria - intellectual disability - ataxia - deafness, [rareguru.com]

  Ketoaciduria Mental Deficiency with Ataxia and Deafness Syndrome. Progressive onset of clinical signs in childhood with normal life duration. Diagnosis is made based on the association of mental retardation, ataxia, and deafness. [accessanesthesiology.mhmedical.com]

• Nystagmus

  Nystagmus MedGen UID: 45166 •Concept ID: C0028738 • Disease or Syndrome Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. [ncbi.nlm.nih.gov]

  Rich·ards-Run·dle syn·drome ( rich'ărds rŭn'dĕl ), a disorder beginning in early childhood with severe, progressive sensorineural hearing loss, ataxia, muscle wasting nystagmus, absent deep tendon reflexes, mental retardation, failure to develop secondary [medical-dictionary.thefreedictionary.com]

  […] extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus [malacards.org]

• Neurologic Manifestation

  An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, [ncbi.nlm.nih.gov]

  manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.Visit the Orphanet disease page for more resources. [malacards.org]

  “Richards-Rundle Syndrome” In our body, the dis-ease, Richards-Rundle Syndrome is the allopathic name of a syndrome primary amenorrhea, with neurological manifestations of peripheral muscle wasting, nystagmus, dementia, mental retardation and associated [wellnessadvocate.com]

  manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. [rareguru.com]

  Some patients also have neurological manifestations, but their exact frequency cannot be ascertained since several reports did not include a description of a neurological examination. [go.gale.com]

• Global Developmental Delay

  Global developmental delay MedGen UID: 107838 •Concept ID: C0557874 • Finding A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social [ncbi.nlm.nih.gov]

  By 7-years of age, both patients had an ataxic gait, reduced tone in the upper limbs, and global developmental delay. The family pedigree showed a similarly affected maternal male first cousin, also born to consanguineous parents. [cags.org.ae]

  developmental delay 0001263 Hypogonadism Decreased activity of gonads 0000135 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [rarediseases.info.nih.gov]

• Cerebellar Ataxia

  Cerebellar ataxia MedGen UID: 849 •Concept ID: C0007758 • Disease or Syndrome Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. [ncbi.nlm.nih.gov]

  Medical Term Other Names Description Ataxia Cerebellar ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. [rarediseases.oscar.ncsu.edu]

  New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness 10.1002/1096-8628(20010215)99:1 3.0.CO;2-Q Cerebellar ataxia and hypergonadotropic hypogonadism comprise a rare and presumably heterogeneous association [scinapse.io]

  Cerebellar ataxia that is transmitted from parent to child. [monarchinitiative.org]

  […] and cerebellar ataxia. [malacards.org]

• Ketonuria

  [from SNOMEDCT_US] From HPO Ketonuria MedGen UID: 56402 •Concept ID: C0162275 • Finding High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. [ncbi.nlm.nih.gov]

  Ketonuria Ketonaciduria, Acetonuria, Ketoaciduria [more] High levels of ketone bodies in the urine. [rarediseases.oscar.ncsu.edu]

  0000815 Mental deterioration Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ] 0001268 30%-79% of people have these symptoms Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Ketonuria [rarediseases.info.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]

Skip to content Home About Us Team Log In News Videos Treatments Clinical Trials Access Programs Diseases Events Networks All News People Treatment Research Finance All Access Programs Main Menu Subscribe for Free Newsletter Email * Type * * Required [checkorphan.org]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

What is the treatment for Goodpasture syndrome? Treatment will depend on your symptoms, age, and general health. It will also depend on how severe the condition is. Treatment may include: Immunosuppressive medicines. [springfieldclinic.staywellsolutionsonline.com]

Specialist Risk Reduction Standards Risk Reliability and Safety Risk Reporting System River Rehabilitation Secretariat Road Runner Sports Samples in periodicals archive: Richards-Rundle syndrome information including symptoms, diagnosis, misdiagnosis, treatment [acronymattic.com]

Reporting System River Rehabilitation Secretariat Road Runner Sports Samples in periodicals archive: Richards-Rundle syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis [acronymattic.com]

Neuroradiological examinations, including CT, are of no practical value at present for the diagnosis, therapy or prognosis of the disease. [link.springer.com]

Jump to navigation Jump to search Ataxia Microchapters Home Patient Information Overview Classification Pathophysiology Causes Differentiating Ataxia from other Diseases Epidemiology and Demographics Risk Factors Natural History, Complications and Prognosis [wikidoc.org]

B-type natriuretic peptides and ejection fraction for prognosis after myocardial infarction. Circulation 2003;107(22):2786-92. Carluccio E, Tommasi S, Bentivoglio M, Buccolieri M, Prosciutti L, Corea L. [gpc-peru.com]

The analysis studied the occurrence of voice and resonance disorders in general, the occurrence in different etiological subtypes of syndromes and the association with other disorders, in particular clefting, a cognitive impairment and hearing problems [karger.com]

Etiology of the weakness in Coffin-Lowry Syndrome [abstract]. Am J Hum Genet 1986; 39 : A85. 39 Fryns JP, Vinken L, Van den Berghe H. The Coffin syndrome. Hum Genet 1977; 36 : 271–276. 40 Partington MW, Mulley JC, Sutherland GR, Thode A, Turner G. [nature.com]

Evidence that autistic traits show the same etiology in the general population and at the quantitative extremes (5%, 2.5%, and 1%). Arch Gen Psychiatry. 2011 Nov; 68(11):1113-21. PMID: 22065527. [connects.catalyst.harvard.edu]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

We also present a working definition for the chronic fatigue syndrome designed to improve the comparability and reproducibility of clinical research and epidemiologic studies, and to provide a rational basis for evaluating patients who have chronic fatigue [annals.org]

Lifecourse epidemiology and molecular pathological epidemiology. Am J Prev Med. 2015 Jan; 48(1):116-9. PMID: 25528613; PMCID: PMC4274745. Dalvie S, Stein DJ, Koenen K, Cardenas V, Cuzen NL, Ramesar R, Fein G, Brooks SJ. [connects.catalyst.harvard.edu]

DiGeorge (22q11.2 deletion) syndrome: Epidemiology and ... ; Jul 25, 2017 ... DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated ... To continue reading this article, you must log in. ... [xylwjzor.ga]

The American Journal of Clinical Nutrition, Volume 105, Issue 3, 1 March 2017, Pages 635–650, https://doi.org/10.3945/ajcn.116.146928 Abstract View article Supplementary data Tags: adult, cytokine, diet, feces, grain, whole Nutritional epidemiology and [ajcn.nutrition.org]

Jump to navigation Jump to search Ataxia Microchapters Home Patient Information Overview Classification Pathophysiology Causes Differentiating Ataxia from other Diseases Epidemiology and Demographics Risk Factors Natural History, Complications and Prognosis [wikidoc.org]

My research program focuses on genetics, pathophysiology (and the correlation with genetics), and mathematical modeling of physiologic systems. [profiles.sc-ctsi.org]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

[…] and Safety Risk Reporting System River Rehabilitation Secretariat Road Runner Sports Samples in periodicals archive: Richards-Rundle syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention [acronymattic.com]

Primary prevention of acute coronary events with lovastatin in men and women with average cholesterol levels: results of AFCAPS/TexCAPS. Air Force/Texas Coronary Atherosclerosis Prevention Study. JAMA 1998;279(20):1615-22. [gpc-peru.com]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

Main report, Hannah McGee, Karen Morgan, and Helen Burke PDF Implementation of the 4th Joint Societies’ Task Force Guidelines on Cardiovascular Disease Prevention in Clinical Practice. Evaluating implementation across 13 European countries. [epubs.rcsi.ie]