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
All these diseases have early symptoms are expressed in a form that can recognize, find out the causes of the disease is the best way to get effective treatment and prevention best
Showing posts with label Genetics Diseases. Show all posts
Showing posts with label Genetics Diseases. Show all posts
Tuesday, June 24, 2014
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.
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.
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