Disease Symptoms Semestet 1

Question 1

What causes enlarged calf muscle?

Answer 1

Duschene/Becker Muscular Dystrophy

Question 2

What does Cherry Red Macula indicate?

Answer 2

Tay-Sachs Disease

Question 3

Cleft Palate, Abnormal Facial Features, Thymic aplasia, Cardiac defects, Hypocalcemia ?

Answer 3

DiGeorge Syndrome (22q11.2)

Question 4

Cat Cry, High-Pitched Cry

Answer 4

Cri-du-Chat Syndrome (-5p)

Question 5

Nasal Polyps, Chronic Lung Disease, Salty Sweat

Answer 5

Cystic Fibrosis

Question 6

Inappropriate Laughing/Smiling/Excitability, Flapping Hands, Intellectual Disability

Answer 6

Angelman Syndrome (Happy Puppet Syndrome)

Question 7

Polydactyly, Cleft Palate, Small or Missing Eyes

Answer 7

Patau Syndrome (Trisomy 13)

Question 8

Rocker Bottom Feet, Clenched Hand with overlapping fingers, Congenital Heart defects

Answer 8

Edwards Syndrome (Trisomy 18)

Question 9

Myopathy, Ophthalmoplegia, Lactic Acidosis, CNS Effects

Answer 9

Typical Symptoms of Mitochondrial Disease

Question 10

Elongated Limbs/digits, indented chest bone, eye problems

Answer 10

Marfans Syndrome

Question 11

Severe Mental Deficiency, Broad nasal bridge, High forehead, seizures, “Greek warrior helm head”

Answer 11

Wolf-Hirschhorn Syndrome (-4p)

Question 12

Hemolytic crisis upon oxidative stress, painful swelling hands and feet, anemia, splenomegaly

Answer 12

Sickle Cell Disease

Question 13

Bilateral ptosis, exercise intolerance, progressive muscle weakness

Answer 13

Progressive External Ophthalmoplegia (PEO)

Question 14

Progressive External Ophthalmoplegia, cerebellar ataxia, heart block, No bone marrow involvement

Answer 14

Kearns-Sayre Syndrome (KSS)

Question 15

More severe form of Kearns-Sayre Syndrome (KSS), Involves bone marrow, pancytopenia, early age onset

Answer 15

Pearson Syndrome

Question 16

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes

Answer 16

MELAS

Question 17

Myoclonus epilepsy, Red Ragged Fibers

Answer 17

MERFF

Question 18

Bilateral Central Vision Failure

Answer 18

LHON (Leber’s Hereditary Optic Neuropathy)

Question 19

Neurogenic muscle weakness, Ataxia, Retinitis Pigmentosa

Answer 19

NARP

Question 20

A more severe form of NARP, caused by greater heteroplasmy

Answer 20

Maternally Inherited Leigh Syndrome (MILS)

Question 21

Epicanthic folds, single palmar crease, upward palpebral fissure, leukemia and congenital heart defects common

Answer 21

Downs Syndrome (Trisomy 21)

Question 22

Webbed neck, amenorrhea (no menstruation), streaked ovaries

Answer 22

Turner Syndrome (45 X) / (45X/46XX mosaic)

Question 23

Tall stature, hypogonadism, feminized secondary sexual characteristics

Answer 23

Klinefelter’s Syndrome

Question 24

Bloody stool, unexplained diarrhea, long periods of constipation, decrease is size of stool, nausea and vomiting

Answer 24

Lynch Syndrome (Hereditary Nonpolyposis Rectal Cancer)

note symptoms could be other things just good to know for school exam

Question 25

Coarse facial features, aggressive behavior, and pearly skin lesions

Answer 25

Hunter Syndrome (X-Linked recessive)

Question 26

Elevated lysosomal enzyme levels, coarse facial features, hepatomegaly

Answer 26

I-cell disease (Inclusion body)

Question 27

Blue Sclera, bone fragility, skeletal deformity

Answer 27

Osteogenesis Imperfecta (Type 1 Collagen Disorder)

Question 28

Hyperextendible Skin, Hypermobile Joints, varicose veins

Answer 28

Ehlers-Danlos Syndrome (Type V & I Collagen Disorder)

Question 29

Mutation in collagen of the basal lamina, Nephritis (Kidney inflammation), Deafness, Hematuria, Proteinuria

Answer 29

Alport Syndrome (Defect in Type IV Collagen)

Question 30

Inflammatory destruction of kidney glomerulus and lung alveoli, progressive renal failure

Answer 30

Goodpasture Syndrome (Auto-antibodies Type IV collagen)

Question 31

Recurrent deep blister formation, syndactyly (fused/webbed fingers), skin falling off

Answer 31

Epidermolysis Bullosa (Varying degrees of presentation mild->lethal)

Question 32

Severe blistering, caused by auto-antibodies against desmosomal cadherins

Answer 32

Pemphigus Vulgaris

Question 33

thin calf muscles normal thigh muscles, peripheral neuropathy, caused by lack of connexin-32

Answer 33

Charcot-Marie-Tooth Neuropathy