Showing posts with label Genetics Diseases. Show all posts
Showing posts with label Genetics Diseases. Show all posts

Tuesday, June 24, 2014

List Of Rare Diseases

List Of Rare Diseases
Rare diseases are diseases which do not attract lot of public attention, funding, or research, perhaps because they are extremely very rare and are poorly publicized. Some of the rare diseases include: -



Acrocephalosyndactylia



Acrodermatitis



Addison Disease



Adie Syndrome



Alagille Syndrome



Amylose



Amyotrophic Lateral Sclerosis



Angelman Syndrome



Angina Pectoris, Variant



Angiolymphoid Hyperplasia with Eosinophilia



Arnold-Chiari Malformation



Arthritis, Juvenile Rheumatoid



Asperger Syndrome



Bardet-Biedl Syndrome



Barrett Esophagus



Beckwith-Wiedemann Syndrome



Behcet Syndrome



Bloom Syndrome



Bowen's Disease



Brachial Plexus Neuropathies



Brown-Sequard Syndrome



Burkitt Lymphoma



Carcinoma 256, Walker



Caroli Disease



Chagas Disease



Charcot-Marie-Tooth Disease



Chediak-Higashi Syndrome



Chiari-Frommel Syndrome



Chondrodysplasia Punctata



Choreatic Disorders



Churg-Strauss Syndrome



Colonic Pseudo-Obstruction



Craniofacial Dysostosis



Creutzfeldt-Jakob Syndrome



Crohn Disease



Cushing Syndrome



De Lange Syndrome



Dementia, Vascular



Dermatitis Herpetiformis



Diffuse Cerebral Sclerosis of Schilder



Duane Retraction Syndrome



Dupuytren's Contracture



Dysautonomia, Familial



Ebstein's Anomaly



Ehlers-Danlos Syndrome



Eisenmenger Complex



Ellis-Van Creveld Syndrome



Encephalitis



Enchondromatosis



Epidermal Necrolysis, Toxic



Facial Hemiatrophy



Factor XII Deficiency



Fanconi Anemia



Felty's Syndrome



Fibrous Dysplasia, Polyostotic



Fox-Fordyce Disease



Friedreich Ataxia



Fusobacterium



Gardner Syndrome



Gaucher Disease



Gerstmann Syndrome



Giant Lymph Node Hyperplasia



Goldenhar Syndrome



Guillain-Barre Syndrome



Hallermann's Syndrome



Hallervorden-Spatz Syndrome



Hamartoma Syndrome, Multiple



Hartnup Disease



Hepatic Vein Thrombosis



Hepatolenticular Degeneration



Hereditary Motor and Sensory Neuropathies



Hippel-Lindau Disease



Hirschsprung Disease



Histiocytic Necrotizing Lymphadenitis



Histiocytosis, Langerhans-Cell



Histiocytosis, Sinus



Hodgkin Disease



Horner Syndrome



Huntington Disease



Hyperaldosteronism



Hyperostosis, Diffuse Idiopathic Skeletal



Hypopituitarism



Inappropriate ADH Syndrome



Intestinal Polyps



Isaacs Syndrome



Kartagener Syndrome



Kearns-Sayer Syndrome



Keratosis Follicularis



Klippel-Feil Syndrome



Klippel-Trenaunay-Weber Syndrome



Kluver-Bucy Syndrome



Korsakoff Syndrome



Lafora Disease



Lambert-Eaton Myasthenic Syndrome



Landau-Kleffner Syndrome



Langer-Giedion Syndrome



Leigh Disease



Lesch-Nyhan Syndrome



Leukodystrophy, Globoid Cell



Li-Fraumeni Syndrome



Long QT Syndrome



Lymphoma, Mantle-Cell



Machado-Joseph Disease



Mallory-Weiss Syndrome



Marek Disease



Marfan Syndrome



Meckel Diverticulum



Meige Syndrome



Melkersson-Rosenthal Syndrome



Meniere's Disease



Mikulicz' Disease



Miller Fisher Syndrome



Mobius Syndrome



Moyamoya Disease



Mucocutaneous Lymph Node Syndrome



Mullerian Ducts



Multiple Endocrine Neoplasia Type 1



Munchausen Syndrome by Proxy



Muscular Atrophy, Spinal



Neuroaxonal Dystrophies



Neuromyelitis Optica



Neuronal Ceroid-Lipofuscinoses



Niemann-Pick Diseases



Noonan Syndrome



Optic Atrophies, Hereditary



Osteitis Deformans



Osteochondritis



Osteochondrodysplasias



Paget's Disease, Mammary



Papillon-Lefevre Disease



Pelizaeus-Merzbacher Disease



Pemphigus, Benign Familial



Penile Induration



Pericarditis, Constrictive



Peroxisomal Disorders



Peutz-Jeghers Syndrome



Pick Disease of the Brain



Pierre Robin Syndrome



Pityriasis Lichenoides



Polycystic Ovary Syndrome



Polyendocrinopathies, Autoimmune



Prader-Willi Syndrome



Pulmonary Fibrosis



Pupil Disorders



Raynaud Disease



Reiter Syndrome



Rett Syndrome



Reye Syndrome



Rubinstein-Taybi Syndrome



Sandhoff Disease



Sarcoma, Ewing's



Shwartzman Phenomenon



Shy-Drager Syndrome



Sjogren's Syndrome



Sjogren-Larsson Syndrome



Smith-Lemli-Opitz Syndrome



Spinal Muscular Atrophies of Childhood



Sturge-Weber Syndrome



Sweating, Gustatory



Sweet's Syndrome



Takayasu's Arteritis



Tangier Disease



Tay-Sachs Disease



Thromboangiitis Obliterans



Tietze's Syndrome



Togaviridae Infections



Tolosa-Hunt Syndrome



Tourette Syndrome



Uveomeningoencephalitic Syndrome



Waardenburg's Syndrome



Waldenstrom Macroglobulinemia



Wegener Granulomatosis



Weil Disease



Werner Syndrome



Williams Syndrome



Wilms Tumor



Wiskott-Aldrich Syndrome



Wolff-Parkinson-White Syndrome



Wolfram Syndrome



Wolman Disease



Zellweger Syndrome



Zollinger-Ellison Syndrome






Monday, June 23, 2014

Genetically Inherited Diseases

Genetically Inherited Diseases
It was difficult to diagnose genetically inherited diseases, but with the advance in technology, there have been breakthroughs that have enabled persons predisposed to genetic diseases to get diagnoses early, before the birth of a child. This way, they will know the chances of the disease being inherited by the unborn child. However, this technology is yet to permeate and reach potential sufferers and so genetically inherited diseases are a reality of the 21st century. Genetically inherited diseases rages form ALS or Lou Gehrig's syndrome to Huntington's disease.



Diagnosis of these diseases was usually done after the effects on the life of the sufferer have become irreversible and the person has been taken to a mental institution. A neurologist will assess the mental functions and the family diseases of the person to make a clear cut diagnosis. A CT scan is performed on the person and genetic tests to analyze the DNA of the person and the likelihood of the genetic disease. For a person displaying obvious symptoms, the genetic tests need not be done, although they are dome as a medical procedure to confirm the disease.



Testing for genetically inherited diseases is done at three stages; at the prenatal stage before the birth of a child, at the developmental stages of a child and after the development of the symptoms of a genetically inherited disease. The prenatal stage is the best stage in the opinion of many medical practitioners. This is not done on just any expectant mother, but on those mothers with the genetic predisposition to the disease. At the developmental stages of a child in a family with a history of any genetically inherited disease, the child may be tested for the disease so as to be wary of the symptoms and to know the chances of developing the disease late in life. Although there is nothing that can be done to prevent the disease even with early diagnosis, the family will be well prepared psychologically to handle the disease in the event that the child is infected. The testing after the symptoms is mainly confirmation of suspicion of the genetically inherited disease.



Genetically inherited diseases involve the passing of a gene that is faulty from one generation to the other. In some genetically inherited diseases, the faulty gene is dominant and is recessive in some. A recessive gene rarely has any harm but a dominant gene manifests itself in the life of the person later in life.