Disease Symptoms Semestet 1 Flashcards
What causes enlarged calf muscle?
Duschene/Becker Muscular Dystrophy
What does Cherry Red Macula indicate?
Tay-Sachs Disease
Cleft Palate, Abnormal Facial Features, Thymic aplasia, Cardiac defects, Hypocalcemia ?
DiGeorge Syndrome (22q11.2)
Cat Cry, High-Pitched Cry
Cri-du-Chat Syndrome (-5p)
Nasal Polyps, Chronic Lung Disease, Salty Sweat
Cystic Fibrosis
Inappropriate Laughing/Smiling/Excitability, Flapping Hands, Intellectual Disability
Angelman Syndrome (Happy Puppet Syndrome)
Polydactyly, Cleft Palate, Small or Missing Eyes
Patau Syndrome (Trisomy 13)
Rocker Bottom Feet, Clenched Hand with overlapping fingers, Congenital Heart defects
Edwards Syndrome (Trisomy 18)
Myopathy, Ophthalmoplegia, Lactic Acidosis, CNS Effects
Typical Symptoms of Mitochondrial Disease
Elongated Limbs/digits, indented chest bone, eye problems
Marfans Syndrome
Severe Mental Deficiency, Broad nasal bridge, High forehead, seizures, “Greek warrior helm head”
Wolf-Hirschhorn Syndrome (-4p)
Hemolytic crisis upon oxidative stress, painful swelling hands and feet, anemia, splenomegaly
Sickle Cell Disease
Bilateral ptosis, exercise intolerance, progressive muscle weakness
Progressive External Ophthalmoplegia (PEO)
Progressive External Ophthalmoplegia, cerebellar ataxia, heart block, No bone marrow involvement
Kearns-Sayre Syndrome (KSS)
More severe form of Kearns-Sayre Syndrome (KSS), Involves bone marrow, pancytopenia, early age onset
Pearson Syndrome
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes
MELAS
Myoclonus epilepsy, Red Ragged Fibers
MERFF
Bilateral Central Vision Failure
LHON (Leber’s Hereditary Optic Neuropathy)
Neurogenic muscle weakness, Ataxia, Retinitis Pigmentosa
NARP
A more severe form of NARP, caused by greater heteroplasmy
Maternally Inherited Leigh Syndrome (MILS)
Epicanthic folds, single palmar crease, upward palpebral fissure, leukemia and congenital heart defects common
Downs Syndrome (Trisomy 21)
Webbed neck, amenorrhea (no menstruation), streaked ovaries
Turner Syndrome (45 X) / (45X/46XX mosaic)
Tall stature, hypogonadism, feminized secondary sexual characteristics
Klinefelter’s Syndrome
Bloody stool, unexplained diarrhea, long periods of constipation, decrease is size of stool, nausea and vomiting
Lynch Syndrome (Hereditary Nonpolyposis Rectal Cancer)
note symptoms could be other things just good to know for school exam
Coarse facial features, aggressive behavior, and pearly skin lesions
Hunter Syndrome (X-Linked recessive)
Elevated lysosomal enzyme levels, coarse facial features, hepatomegaly
I-cell disease (Inclusion body)
Blue Sclera, bone fragility, skeletal deformity
Osteogenesis Imperfecta (Type 1 Collagen Disorder)
Hyperextendible Skin, Hypermobile Joints, varicose veins
Ehlers-Danlos Syndrome (Type V & I Collagen Disorder)
Mutation in collagen of the basal lamina, Nephritis (Kidney inflammation), Deafness, Hematuria, Proteinuria
Alport Syndrome (Defect in Type IV Collagen)
Inflammatory destruction of kidney glomerulus and lung alveoli, progressive renal failure
Goodpasture Syndrome (Auto-antibodies Type IV collagen)
Recurrent deep blister formation, syndactyly (fused/webbed fingers), skin falling off
Epidermolysis Bullosa (Varying degrees of presentation mild->lethal)
Severe blistering, caused by auto-antibodies against desmosomal cadherins
Pemphigus Vulgaris
thin calf muscles normal thigh muscles, peripheral neuropathy, caused by lack of connexin-32
Charcot-Marie-Tooth Neuropathy
