EPONYMOUS DISEASES LIST BASE - A

Disease Etymology and Synonyms Etiology Radiological Signs Investigations Drug of Choice Investigation of Choice Signs and Symptoms
Alzheimer's Disease Named after Alois Alzheimer Neurodegenerative disease Brain atrophy, amyloid plaques MRI, PET scan Cholinesterase inhibitors, memantine Neuropsychological testing Memory loss, cognitive decline
Addison's Disease Named after Thomas Addison Adrenal insufficiency Adrenal gland atrophy Blood tests (cortisol, ACTH) Corticosteroids Blood tests Fatigue, weakness, weight loss
Amyotrophic Lateral Sclerosis (ALS) Also known as Lou Gehrig's disease Neurodegenerative disease Muscle atrophy EMG, nerve conduction studies Riluzole Neurological examination Muscle weakness, difficulty speaking
Ankylosing Spondylitis Named after Pierre Marie and Pierre Bertolotti Inflammatory disease Fusion of vertebrae X-rays, MRI NSAIDs, TNF inhibitors Blood tests (HLA-B27) Back pain, stiffness, fatigue
Ataxia-Telangiectasia Named after Pierre Marie and Pierre Bertolotti Neurodegenerative disease Cerebellar atrophy, telangiectasias Genetic testing, MRI No cure Neurological examination Muscle coordination problems, slurred speech
Bell's Palsy Named after Sir Charles Bell Facial nerve paralysis Facial asymmetry EMG Corticosteroids Neurological examination Facial weakness, drooping
Cushing's Syndrome Named after Harvey Cushing Excess cortisol production Moon face, buffalo hump Blood tests (cortisol, ACTH) Surgery, medication Blood tests Weight gain, fatigue, high blood pressure
Crohn's Disease Named after Burrill Crohn Inflammatory bowel disease Thickened intestinal walls Colonoscopy, endoscopy Anti-inflammatory drugs, immunosuppressants Stool sample, blood tests Abdominal pain, diarrhea, weight loss
Down Syndrome Named after John Langdon Down Genetic disorder Extra chromosome 21 Genetic testing No cure Physical examination Delayed development, distinctive facial features
Huntington's Disease Named after George Huntington Neurodegenerative disease Cerebral atrophy Genetic testing No cure Family history, neurological examination Involuntary movements, cognitive decline
Kawasaki Disease Named after Tomisaku Kawasaki Vasculitis Inflammation of blood vessels Echocardiogram, blood tests Immunoglobulin therapy, aspirin Blood tests Fever, rash, swollen lymph nodes
Klinefelter Syndrome Named after Harry Klinefelter Genetic disorder Extra X chromosome Genetic testing Hormone therapy Physical examination Infertility, tall stature
Marfan Syndrome Named after Antoine Marfan Connective tissue disorder Long limbs, heart defects Genetic testing, echocardiogram Medication for heart problems Physical examination Tall stature, joint pain
Meniere's Disease Named after Prosper Meniere Inner ear disorder Increased fluid pressure in inner ear Audiogram, MRI Diuretics, antihistamines Physical examination Vertigo, tinnitus, hearing loss
Multiple Sclerosis (MS) Named after Jean-Martin Charcot Autoimmune disease Inflammation of myelin sheath MRI, lumbar puncture Disease-modifying drugs Neurological examination Weakness, fatigue, vision problems
Parkinson's Disease Named after James Parkinson Neurodegenerative disease Dopamine deficiency MRI, PET scan Levodopa-carbidopa, dopamine agonists Neurological examination Tremor, rigidity, bradykinesia
Raynaud's Phenomenon Named after Maurice Raynaud Vasospasm Cold fingers and toes Physical examination Calcium channel blockers, alpha-blockers Physical examination Numbness, tingling, color changes
Sjogren's Syndrome Named after Henrik Sjogren Autoimmune disease Dry eyes and mouth Blood tests, salivary gland biopsy Artificial tears, medications Blood tests Dry eyes, dry mouth, joint pain
Turner Syndrome Named after Henry Turner Genetic disorder Missing X chromosome Genetic testing Hormone therapy Physical examination Short stature, infertility
Wernicke-Korsakoff Syndrome Named after Carl Wernicke and Sergei Korsakoff Brain disorder due to thiamine deficiency Brain damage Blood tests (thiamine levels) Thiamine supplementation Neurological examination Confusion, memory loss
Celiac Disease Named after Theophilus von Trümpner Autoimmune disease Damage to small intestine Blood tests (antibodies), endoscopy Gluten-free diet Blood tests Abdominal pain, diarrhea, weight loss
Graves' Disease Named after James Graves Hyperthyroidism Enlarged thyroid gland Blood tests (thyroid hormones) Antithyroid medications, surgery Blood tests Weight loss, anxiety, rapid heartbeat
Lyme Disease Named after Lyme, Connecticut Tick-borne illness Erythema migrans rash Blood tests (antibodies) Antibiotics Blood tests Fever, fatigue, joint pain
Pernicious Anemia Named after Thomas Addison Vitamin B12 deficiency Megaloblastic anemia Blood tests (vitamin B12 levels) Vitamin B12 injections Blood tests Fatigue, weakness, tingling
Pituitary Dwarfism Caused by a deficiency in growth hormone Hormonal disorder Short stature, delayed puberty Blood tests (growth hormone levels) Growth hormone therapy Blood tests Short stature, delayed puberty
Rheumatoid Arthritis Named after Alfred Garrod Autoimmune disease Joint inflammation X-rays, blood tests Disease-modifying antirheumatic drugs (DMARDs) Blood tests Joint pain, stiffness, swelling
Sickle Cell Disease Named after the shape of red blood cells Genetic disorder Sickle-shaped red blood cells Blood tests Pain management, blood transfusions Blood tests Painful crises, anemia
Tay-Sachs Disease Named after Warren Tay and Bernard Sachs Neurodegenerative disease Cherry-red spot on retina Genetic testing No cure Neurological examination Delayed development, seizures
Tourette Syndrome Named after Georges Gilles de la Tourette Neurological disorder Tics Neurological examination Medications Neurological examination Tics, vocalizations, compulsions
Von Willebrand Disease Named after Erik von Willebrand Bleeding disorder Excessive bleeding Blood tests (vWF levels) Desmopressin, factor VIII Blood tests Easy bleeding, nosebleeds
Bipolar Disorder Named after Emil Kraepelin Mental health disorder Mood swings Psychiatric evaluation Mood stabilizers, antidepressants Psychiatric evaluation Mania, depression
Chronic Fatigue Syndrome Named after Bruce W. Hyams Chronic fatigue Fatigue, cognitive problems Blood tests (to rule out other conditions) Symptom management Blood tests Fatigue, brain fog, sleep problems
Fibromyalgia Named after James F. Fibiger and Russell L. Mold Chronic pain syndrome Widespread pain Physical examination Pain management, antidepressants Physical examination Widespread pain, fatigue
Gout Named after the Greek word gout (meaning drop) Inflammatory disease Joint inflammation Blood tests (uric acid levels) NSAIDs, allopurinol Blood tests Joint pain, swelling, redness
Osteoporosis Named after the Greek words osteon (bone) and porosis (porous) Bone disease Decreased bone density Bone density scan Calcium, vitamin D supplements Bone density scan Increased risk of fractures
Pancreatitis Named after the Greek word pancreas (meaning all flesh) Inflammation of the pancreas Abdominal pain, nausea Blood tests (lipase, amylase) IV fluids, pain management Blood tests Abdominal pain, nausea, vomiting
Pneumonia Named after the Greek word pneumon (meaning lung) Lung inflammation Chest X-ray Blood tests, sputum culture Antibiotics Chest X-ray Cough, fever, shortness of breath
Schizophrenia Named after the Greek words schizo (meaning split) and phren (meaning mind) Mental health disorder Delusions, hallucinations Psychiatric evaluation Antipsychotic medications Psychiatric evaluation Delusions, hallucinations, disorganized thoughts
Seizure Disorder Also known as epilepsy Neurological disorder Seizures EEG Anticonvulsant medications EEG Seizures, loss of consciousness
Stroke Also known as cerebrovascular accident (CVA) Brain damage due to blood clot or bleeding Weakness or numbness on one side of the body CT scan, MRI Blood thinners, rehabilitation CT scan, MRI Weakness, numbness, difficulty speaking
Thyroiditis Named after the Greek word thyreos (meaning shield) Inflammation of the thyroid gland Enlarged thyroid gland Blood tests (thyroid hormones) Medication, surgery Blood tests Fatigue, weight gain, cold intolerance
Ulcerative Colitis Named after the Latin words ulcer (meaning sore) and colitis (meaning inflammation of the colon) Inflammatory bowel disease Ulcers in the colon Colonoscopy Anti-inflammatory drugs Ulcerative Colitis Named after the Latin words ulcer (meaning sore) and colitis (meaning inflammation of the colon)