Genetic Disorders Flashcards
Tay Sachs Disease
dysfunction of the 15q, can’t produce hexinoaminase
CNS degeneration
poor motor/cognitive function, lives up to 2-3 y/o max
Krabbe’s disease
lack of galactocerebroside B galactosidase
normal at birth then presents with:
blindness, deafness, MR, paralysis, pseudobulbar palsy
lives up to 2 years
Freidriech Ataxia
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
Wilsons Disease
abnormal accumulation of copper beginning age 12-20
presents with:
choreoathetoid movements, rigidity
dementia, cirrohsis, dysarthria, kayser-fleisher ring
Cystic Fibrosis
exocrine gland, sweat glands dysfunction
respiratory and GI dysfunction and failure
up to 20 yo
Sick cell anemia
sickled RBC, predominantly in Afro americans
minor: infarction/thrombosis
severe: jaundice, arthralgia, CN pathology, AVN, renal/pulmonary dysfunction
manage: monitor hemoglobin level
Phenylketonuria
lacking phenylalanine hydroxylase, can’t convert to tyrosine
Untreated: MR, GR, seizures, movement disorders
manage: limit carb intake
Hurler’s Syndrome
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?
Charcot Marie Tooth
Peroneal atrophy
pes cavus, champagne leg, flexion of hip/knee, foot drop
diag: hx, clin pic,
Huntington’s chorea
atrophy of striatum cortex (putamen, caudate, frontal cortex)
varied, constant chorea movement
Neurofibromatosis
genetic mutation, familial
seizures, MR, neurofibromatosis, cafe au lait spots
management: remove neurofibroma, seizure meds
Tuberous Sclerosis
Etio: increased paternal age
seizures, MR, sebaceous adenomas
Osteogenesis Imperfecta
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
Prader Willi syndrome
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
Cri- Du chat syndrome
partial deletion of 5p
cat like cry intrauterine growth retardation hypertelorism microcephaly strabismus
severe MR
midline hair
feeding problem/respiratory problem
scoliosis/tone problem
Wolf Hirschhorn Syndrome
partial deletion of 4p
growth/psychomotor retardation hypertelorism seizures microcephaly hypotonic heart defect club feet cleft palate hip dislocation
Fragile X syndrome
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
Klinefelter Syndrome
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
Turner’s Syndrome
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
Pateou syndrome Trisomy 13
more severe case of trisomy
5% survive past 3 y/o
Presents with: MS/MS, urogential problems, profound MR, extra digits, cleft palate, anopthalmia
Edwards Syndrome Trisomy 18
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
Trisomy 21 Diagnosis and Management
amniocentesis
alpha fetal protein
observation
treat the seizures, cataracts, Muscuolo tone issues
Trisomy 21 Sensory
strabismus myopia nystagmus chronic ottis media hearing loss cataracts
Trisomy 21 Neuropathology
decreased convolusion, myelination, synaptogenesis, number of small neurons
abnormal neurons
increased amount of senile plaques
Trisomy 21 Physical features
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
Trisomy 21 in general
chances of Down syndrome increase with maternal age
MR, microbrachycephaly
cardiopulmonary abnormalities, developmental delays
seizures, leukemia, dementia, duodenal stenosis
Lowe’s Disease
metabolic acidosis by 6 months
renal failure as primary cause of death
cataract/glaucoma/FTT
growth and mental retardation
piercing cry
Lesch- Nyhan Disease
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
Duchenn’s Muscular Dystrophy
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
Spinal Muscular Atrophy
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
Multifactorial Disease in general
heart disease
diabetes
cleft palate
spina bifia myelomeningiocele
Cornelia Delang
unknown cause, Mediterranean influence?
hairy, synapharies, short stature, severe MR, malformed limbs
Torsion Dystonia
genetically linked
slow gradual onset of choreo twisting
treat with deep brain stimulation
