Presentation
Covering pathologic conditions by clinical appearance, Oral Pathology: Clinical Pathologic Correlations, 6th Edition uses an atlas-style format to help you identify, diagnose, and plan treatment for oral disease presentations. [books.google.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]
Acronym LIKNS Synonyms SCAR19 Spinocerebellar ataxia, autosomal recessive, 19 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
ORPHA:2390 Synonym(s): - Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 246550 UMLS: C1855502 MeSH: - GARD: 3248 MedDRA: - The documents contained in this web site are presented for information purposes only [orpha.net]
Entire Body System
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Recurrent Respiratory Infections
Symptoms via clinical synopsis from OMIM: 57 Respiratory: recurrent respiratory infections Immunology: iga deficiency recurrent infections (pulmonary, skin, teeth) Skeletal Hands: transverse palmar crease ulnar deviation of fingers hyperextensibility [malacards.org]
Respiratoric
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Rib Tenderness
Symptoms Bone cyst Facial bone pain Facial bone swelling Facial bone tenderness Fractures Leontiasis ossea appearance Long bone pain Long bone swelling Long bone tenderness Rib pain Rib swelling Rib tenderness Scoliosis Skull pain Skull swelling Skull [fr.wikidoc.org]
Skin
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Hirsutism
[…] enamel hypoplasia caries discolored teeth, brown Skeletal Spine: c1-c2 subluxation posterior spinal arch fusion defect Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum, mild Skeletal Skull: wide, asymmetric foramen magnum Skin Nails Hair Hair: hirsutism [malacards.org]
Musculoskeletal
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Chest Deformity
Bone manifestations are consequences of fibrous lesions that can lead to pathologic fractures, limping, unequal limp length, chest deformity, skull asymmetry, leontiasis-like appearance, scoliosis. [accessanesthesiology.mhmedical.com]
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Lordosis
[…] proliferation of single or multiple circumscribed fibrous lesions, predominantly in the long bones, which predispose to painful bone deformities and pathological fractures, limping, unequal limp length, skull asymmetry, leontiaslike appearance, scoliosis, lordosis [whonamedit.com]
Face, Head & Neck
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Leontiasis
Symptoms Bone cyst Facial bone pain Facial bone swelling Facial bone tenderness Fractures Leontiasis ossea appearance Long bone pain Long bone swelling Long bone tenderness Rib pain Rib swelling Rib tenderness Scoliosis Skull pain Skull swelling Skull [fr.wikidoc.org]
Bone manifestations are consequences of fibrous lesions that can lead to pathologic fractures, limping, unequal limp length, chest deformity, skull asymmetry, leontiasis-like appearance, scoliosis. [accessanesthesiology.mhmedical.com]
Neurologic
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Cerebellar Ataxia
Definition An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss. [uniprot.org]
OMIM : 57 Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. [malacards.org]
Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. [ncbi.nlm.nih.gov]
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Dysarthria
Related phenotypes are nystagmus and dysarthria UniProtKB/Swiss-Prot : 75 Lichtenstein-Knorr syndrome: An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss. [malacards.org]
[from OMIM ] Dysarthria MedGen UID: 8510 • Concept ID: C0013362 • Mental or Behavioral Dysfunction Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. [ncbi.nlm.nih.gov]
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Action Tremor
Action tremor MedGen UID: 892374 • Concept ID: C4020853 • Finding Cerebellar atrophy MedGen UID: 892891 • Concept ID: C4020873 • Disease or Syndrome Atrophy (wasting) of the cerebellum. [ncbi.nlm.nih.gov]
tremor 32 HP:0002345 10 cerebellar atrophy 32 occasional (7.5%) HP:0001272 Drugs for Lichtenstein-Knorr Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB): # Name Status Phase Clinical Trials Cas Number PubChem Id 1 Analgesics [malacards.org]
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Dysmetria
Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: dysarthria gait ataxia limb ataxia dysmetria dysdiadochokinesis more Growth Height: short stature (1 patient) Neurologic Peripheral Nervous System: areflexia, upper and lower [malacards.org]
Principles of Neurology, 6th ed, p272) Dysmetria MedGen UID: 68583 • Concept ID: C0234162 • Finding A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related [ncbi.nlm.nih.gov]
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Gait Ataxia
Gait ataxia MedGen UID: 155642 • Concept ID: C0751837 • Sign or Symptom A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. [ncbi.nlm.nih.gov]
Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: dysarthria gait ataxia limb ataxia dysmetria dysdiadochokinesis more Growth Height: short stature (1 patient) Neurologic Peripheral Nervous System: areflexia, upper and lower [malacards.org]
Workup
Management of suspected heavy metal intoxication involves referral for diagnostic workup. [dentalcare.com]
The workup of a potentially battered child is extremely serious, and involves significant legal and social investigations of the parents. [rad.washington.edu]
Thyroid function tests Serum calcium testing to screen for hyperparathyroidism Erythrocyte sedimentation rate and C-reactive protein measurement are nonspecific screening tests for inflammation See Workup for more detail. [emedicine.medscape.com]
Treatment
Full-color photomicrographs help you identify pathologic elements and provide correct diagnoses and treatment plans. Boxes and tables offer clear, at-a-glance information on the clinical features, diagnosis, and treatment for many conditions. [books.google.com]
Generally, no treatment is required in asymptomatic cases. [dovemed.com]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
[…] of Relapsed and Refractory B Cell Malignancies Recruiting NCT03050190 Phase 1, Phase 2 3 Combination CAR-T Cell Therapy Targeting Hematological Malignancies Recruiting NCT03125577 Phase 1, Phase 2 4 A Phase I Trial of 4SCAR19 Cells in the Treatment of [malacards.org]
Prognosis
The prognosis is dependent upon the severity of the disorder Currently, there are no known methods to prevent Fibrous Dysplasia The types of Fibrous Dysplasia include: Monostotic Fibrous Dysplasia: When only a single bone is involved Polyostotic Fibrous [dovemed.com]
Prognosis - Lichtenstein syndrome Not supplied. Treatment - Lichtenstein syndrome Not supplied. Resources - Lichtenstein syndrome Not supplied. [checkorphan.org]
Treatment and prognosis Prognosis is generally poor. If disease is localized, segmentectomy or lobectomy may be offered. In diffuse disease management if generally with conservative measures; liver transplantation may be an option 1. [radiopaedia.org]
Surgical procedures are required for correction of deformities, prevention of pathologic fractures, or eradication of symptomatic lesions. [9] Treatment of malignant transformation is based on the subtype of sarcoma, but the prognosis tends to be worse [emedicine.medscape.com]
Etiology
Expanded sections on etiology, treatment, and diagnosis of oral cancer (HPV) describe how subtypes can play an important role in the development and natural history of some head and neck cancers, most notably those arising in the oropharynx. [books.google.com]
Syringomyelia, scoliosis and idiopathic Arnold-Chiari malformations: a common etiology. Rev Neurol. 1996;24(132):937-59. Royo-Salvador MB. [raredr.com]
Etiology of fibrous dysplasia and McCune-Albright syndrome. Int J Oral Maxillofac Surg 1999;28:366-71. 5. Menon S, Venkatswamy S, Ramu V, Banu K, Ehtaih S, Kashyap VM. Craniofacial fibrous dysplasia: Surgery and literature review. [mjdrdypu.org]
The development of symptoms in people older than 40 years does not exclude irritable bowel syndrome but should prompt a closer search for an underlying organic etiology. [emedicine.medscape.com]
[…] hyperparathyroidism See also laboratory testing of bone disease Osteopetrosis Osteopetrosis is an inherited, diffuse bone disease that results in increased sclerotic appearance of the skeleton on radiological examination (from Latin: "petrosus" stony) Etiology [amboss.com]
Epidemiology
Epidemiology Second most prevalent skeletal disease after osteoporosis Sex : (1.2:1) Age of onset : 55 years References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. Pathophysiology PDB is an idiopathic disease. [amboss.com]
I am professor in genetic epidemiology. 2006 Professor in genetic epidemiology. [ki.se]
To elucidate the relative contribution of risk factors of drug, disease, and host to fat redistribution, large epidemiologic studies using multivariate analysis were reviewed. [journals.lww.com]
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]
Epidemiology Fibrous dysplasia represents about 5% of benign bone lesions [3] ; however, the true incidence is unknown, as many patients are asymptomatic. Monostotic fibrous dysplasia accounts for 75-80% of the cases. [emedicine.medscape.com]
Pathophysiology
Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005;87:1848-1864. Lietman SA, Ding C, Levine MA. [rarediseases.org]
Pathophysiology PDB is an idiopathic disease. PDB is associated with a high rate of bone remodeling. [amboss.com]
Pathophysiology Traditional theories regarding the pathophysiology of irritable bowel syndrome (IBS) may be visualized as a three-part complex of altered gastrointestinal (GI) motility, visceral hyperalgesia, and psychopathology. [6] More recently, it [emedicine.medscape.com]
The narcotic bowel syndrome: clinical features, pathophysiology, and management. Clin. Gastroenterol. Hepatol. 5, 1126–1239 (2007). 9. Agostini, S. et al. [nature.com]
Overweight in children and adolescents, pathophysiology, consequence, prevention, and treatment. Circulation 2005;111:1999-2012. Suryaputra K, Nadhiroh SR. Perbedaan pola makan dan aktivitas fisik antara remaja obesitas dengan non obesitas. [jurnal.ugm.ac.id]
Prevention
The prognosis is dependent upon the severity of the disorder Currently, there are no known methods to prevent Fibrous Dysplasia The types of Fibrous Dysplasia include: Monostotic Fibrous Dysplasia: When only a single bone is involved Polyostotic Fibrous [dovemed.com]
[…] pain * Long bone tenderness * Rib swelling * Rib pain Causes - Lichtenstein syndrome Haematoma Lung cancer Leiomyoma Cyst Bronchial adenoma Xiphoid process Chronic osteomyelitis (type of Osteomyelitis) Paget\'s disease Osteochondroma Fibrous dysplasia Prevention [checkorphan.org]
Expanded section on bisphosphonate-related osteonecrosis of the jaws helps you effectively manage patients taking bisphosphonates to prevent bone loss, including information on oral complications, risk factors, and benefits. [books.google.com]
There are several options for treating and preventing red man syndrome. Drugs that release histamine in the body can also result in red man syndrome. [medicalnewstoday.com]