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Clin med II Patho > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Tay Sachs Disease

A

dysfunction of the 15q, can’t produce hexinoaminase
CNS degeneration

poor motor/cognitive function, lives up to 2-3 y/o max

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2
Q

Krabbe’s disease

A

lack of galactocerebroside B galactosidase

normal at birth then presents with:
blindness, deafness, MR, paralysis, pseudobulbar palsy

lives up to 2 years

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3
Q

Freidriech Ataxia

A

posterior cord/root dysfunction, affects the
venteral/dorsal spinocerebellar tract, lateral corticospinal tract

presents with: cardiomyopathies
ataxic gait, UE/LE dysmetria
speech disturbance, pes cavus

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4
Q

Wilsons Disease

A

abnormal accumulation of copper beginning age 12-20

presents with:
choreoathetoid movements, rigidity
dementia, cirrohsis, dysarthria, kayser-fleisher ring

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5
Q

Cystic Fibrosis

A

exocrine gland, sweat glands dysfunction

respiratory and GI dysfunction and failure

up to 20 yo

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6
Q

Sick cell anemia

A

sickled RBC, predominantly in Afro americans

minor: infarction/thrombosis
severe: jaundice, arthralgia, CN pathology, AVN, renal/pulmonary dysfunction
manage: monitor hemoglobin level

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7
Q

Phenylketonuria

A

lacking phenylalanine hydroxylase, can’t convert to tyrosine

Untreated: MR, GR, seizures, movement disorders

manage: limit carb intake

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8
Q

Hurler’s Syndrome

A

lack of enzyme to break down mucopolysaccaride

normal at birth, s/s progressese age 1-3

Physical: frontal bossing, hypertelorism, gingivial hypertrophy
Mental and physical deterioration
Early death (12y/o max) due to cardio pathology

manage: hormone ? supportive?

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9
Q

Charcot Marie Tooth

A

Peroneal atrophy

pes cavus, champagne leg, flexion of hip/knee, foot drop

diag: hx, clin pic,

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10
Q

Huntington’s chorea

A

atrophy of striatum cortex (putamen, caudate, frontal cortex)

varied, constant chorea movement

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11
Q

Neurofibromatosis

A

genetic mutation, familial

seizures, MR, neurofibromatosis, cafe au lait spots

management: remove neurofibroma, seizure meds

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12
Q

Tuberous Sclerosis

A

Etio: increased paternal age

seizures, MR, sebaceous adenomas

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13
Q

Osteogenesis Imperfecta

A

type 1= more common
type 2= more severe

decreased collagen synthesis, diagnosed by biopsy of collagen or genetic testing

blue teeth, brittle bones, short stature/limbs, increase lig extensibility

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14
Q

Prader Willi syndrome

A

partial deletion of 15q

early stage:
hypotonic, expressionless face, feeding problems/inadequate calories

late stage:
increased tone and motor
unsatiable, obesity problems
mod MR, hypogonadism, repetitive picking at skin

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15
Q

Cri- Du chat syndrome

A

partial deletion of 5p

cat like cry
intrauterine growth retardation
hypertelorism
microcephaly
strabismus

severe MR
midline hair
feeding problem/respiratory problem
scoliosis/tone problem

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16
Q

Wolf Hirschhorn Syndrome

A

partial deletion of 4p

growth/psychomotor retardation
hypertelorism
seizures
microcephaly
hypotonic
heart defect
club feet
cleft palate
hip dislocation
17
Q

Fragile X syndrome

A

males show full presentation, females have another x to make up for it

Large head, ears, jaws
myopia
v shaped palate
large testes
autistic/active
18
Q

Klinefelter Syndrome

A

47xxy, males with female characteristic

Severe cases :severe MR
hypertelorism
strabismus
microcephaly
genu valgus

pes planus
cleft palate
malformed c spine
radioulnar stenosis

Minor cases: gynecomastia, testes don’t drop, sterile, average IQ

19
Q

Turner’s Syndrome

A

45XO, most common reason of spontaneous abortion

webbed neck
cubital valgus
hypertelorism

epicanthial fold
ptosis
elongated ears
growth retardation

CHD, kidney failture, decreased gustatory, hearing loss, sexual infantism, average IQ, decreased spatial ortientation

20
Q

Pateou syndrome Trisomy 13

A

more severe case of trisomy

5% survive past 3 y/o
Presents with: MS/MS, urogential problems, profound MR, extra digits, cleft palate, anopthalmia

21
Q

Edwards Syndrome Trisomy 18

A

2nd most common trisomy, 10% live past 1 y/o

LBW, short stature, CV, GI, urogenital, skeletal abnormalities

A-P head size, misshapened ears, abnormal tone, profound MR

microcephaly
hydrocephalus 
myelomeningiocele
corpus callosum deficit
cerebellar defect
heterotropic ganglion cell
22
Q

Trisomy 21 Diagnosis and Management

A

amniocentesis
alpha fetal protein
observation

treat the seizures, cataracts, Muscuolo tone issues

23
Q

Trisomy 21 Sensory

A 
strabismus
myopia
nystagmus
chronic ottis media
hearing loss
cataracts
24
Q

Trisomy 21 Neuropathology

A

decreased convolusion, myelination, synaptogenesis, number of small neurons

abnormal neurons

increased amount of senile plaques

25
Q

Trisomy 21 Physical features

A

small ears, saddle nose, specking of iris, epicathial fold, simian crease on plam, shorter stature, increased eye slant, increased space between 1/2 digits, micrognathia, marcglosia

26
Q

Trisomy 21 in general

A

chances of Down syndrome increase with maternal age

MR, microbrachycephaly
cardiopulmonary abnormalities, developmental delays
seizures, leukemia, dementia, duodenal stenosis

27
Q

Lowe’s Disease

A

metabolic acidosis by 6 months

renal failure as primary cause of death
cataract/glaucoma/FTT
growth and mental retardation
piercing cry

28
Q

Lesch- Nyhan Disease

A

increased uric acid with deficiency of enzyme in liver, brain, amniotic cell

normal at birth then at age 1-2 presents with self mutilating behavior even with normal pain perception
tremors, spatic paresis, choreo movements, dysarthria, dysphagia

29
Q

Duchenn’s Muscular Dystrophy

A 
lack of dystrophin protein= no muscle repair
eventual pseudohypertrophy (infiltration of fatty cells)

gower’s sign and ventilation

normal at birth, s/s begin 1-3, can’t walk around 10, die around 30 yo

30
Q

Spinal Muscular Atrophy

A

apoptosis of anterior horn

diag via EEG, serum enzyme (CPK), or mm biopsy

Type I- onset 0-6 month, dead around 5yo
Type 2 onset 6mth-2y/o, dead around young adult
Type 3 onset in teens, dead around 30-40
Type 4 onset in 20s, dead around middle age

31
Q

Multifactorial Disease in general

A

heart disease
diabetes
cleft palate
spina bifia myelomeningiocele

32
Q

Cornelia Delang

A

unknown cause, Mediterranean influence?

hairy, synapharies, short stature, severe MR, malformed limbs

33
Q

Torsion Dystonia

A

genetically linked
slow gradual onset of choreo twisting
treat with deep brain stimulation

Clin med II Patho (11 decks)

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