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Genetic Diseases Flashcards

1
Q

give some examples of purely genetic diseases

A

CF, sickle cell

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2
Q

give some examples of purely environmental diseases

A

mercury poisoning

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3
Q

give some examples of combo genetic/environmental diseases

A

DM type II

HTN

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4
Q

What are the 3 minimum competencies of PT w/ genetic diseases?

A
  1. appreciate one’s limitations in genetics and expertise
  2. understand psychosocial and ethical implications of genetic service
  3. know when and how to make referral
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5
Q

When to refer:

Family history of…

A
  1. dysmorphology
  2. brain malformations
  3. epilepsy
  4. abnormal CT, EEG
  5. abnormal tone
  6. weakness, motor control, discoordination
  7. delated development
  8. sensory disturbances
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6
Q

T/F:

Children w/global DD should be referred even in absence of dysmorphism

A

True

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7
Q

Monogenic

A

Mendelian inheritance-single gene involved

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8
Q

Polygenic

A

complex inheritance pattern-

many genes involved

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9
Q

Cytogenetic

A

involves large scale changes in chromosomes

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10
Q

genotype

A

refers to individual alleles and precise genetic makeup

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11
Q

phenotype

A

physical or physiological manifestation of genotype

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12
Q

T/F:

people with the same genotype present with the same phenotype

A

False

Two people can have same genotype (down syndrome) but have different presentation (phenotype)

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13
Q

What are the 4 categories of genetic disorders?

A
  1. chromosomal
  2. single gene
  3. multifactorial
  4. mitochondrial
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14
Q

Chromosomal disorders

A

Altered structure or number
- includes deletions, inversions, duplications, and translocations
- 10-15% of human conceptions but 1/160 births
(leading cause of miscarriage)

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15
Q

translocations

A

part of the chromosome is translocated to be part of an other chromosome

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16
Q

Alterations in number:

polyploidy

A

complete extra set

all are lethal

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17
Q

Alterations in number:

aneuploidy

A

absence (monosomy) or duplication (trisomy) of a chromosome in a cell.

usually only one chromosome affected.

monosomies rarely survive

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18
Q

Alterations in number:

mosaicism

A

most are due to a fully trisomy conception followed by loss of extra chromosomes during mitosis.

milder clinical manifestation

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19
Q

T/F: you can survive without a Y chromosome

A

True

type xo

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20
Q

T/F: you can survive without an X chromosome

A

False

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21
Q

Alterations in structure:

Deletion

A

caused by chromosome break

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22
Q

Alterations in structure:

Translocation

A

interchange of genetic material between nonhomologous chromosomes

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23
Q

Alterations in structure:

Reciprocal translocation

A

2 breaks in different chromosomes w/equal exchange.

Normally carriers but offspring have disease

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24
Q

General characteristics of chromosomal abnormalities

A
  1. most associated w/ developmental delay and cog impairment
  2. large # of genes involved w/CNS development
  3. delayed growth
  4. congenital malformations
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25
Q

down syndrome, edwards syndrome, and patau syndrome are all associated with:

A

advanced maternal age

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26
Q

Down Syndrome:

most common form

A

trisomy 21

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27
Q

Down Syndrome:

Phenotypic features

A

Hypoplasia common

Craniofacial features

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28
Q

Down Syndrome:

Craniofacial features

A
  1. inner epicanthal folds
  2. upward slanting palpebral fissures
  3. flat facial profile
  4. aplasia/hypoplasia front sinuses
  5. anomalous ears
  6. low nasal bridge
  7. shortened palate
  8. maxillary and dental hypoplasia
  9. irregular tooth placement
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29
Q

T/F: sinus and ear infections are common w/Down Syndrome

A

True

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30
Q

Down Syndrome:

MSK/Connective tissue

A
  1. Diastasis recti
  2. joint hypermobility
  3. hypoplastic pelvis w/shallow acetabular angle
  4. atlantoaxial instability
  5. wide gap between toes 1 and 2
  6. simian creases
  7. Delated skeletal maturation rate
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31
Q

Down Syndrome:

hypermobility+hypoplastic pelvis+shallow acetabular angle =

A

hip dysplasia, hip disolcation/subluxation

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32
Q

Down Syndrome:

atlantoaxial instability leads to

A

risk of SC compression

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33
Q

Down Syndrome:

linear growth deficits are greatest between…

A

6 and 24 months

mostly due to leg length reduction

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34
Q

T/F: 1/3 of Down Syndrome patients are overweight by age 3

A

True

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35
Q

Down Syndrome:

Eyes/Vision

A
  1. iris speckling
  2. myopia
  3. nystagmus
  4. strabismus
  5. tear duct blockage
36
Q

Down Syndrome:

Ears/hearing

A
  1. conductive hearing loss

2. sensorineural or mixed hearing loss (roughly 78%)

37
Q

Down Syndrome:

CV

A

CHD is most common health problem with 40% having malformations

  1. ventricular septal defect
  2. patent ductus arteriosus
  3. tetralogy of Fallot
38
Q

Down Syndrome:

GI

A
  1. duodenal stenosis/atresia
  2. imperforate anus
  3. Hirschprung’s disease
39
Q

Hirschprung’s disease

A

some paralysis in the intestines. can require colostomy bag

40
Q

Down Syndrome:

Neurologic

A
  1. ID
  2. mild microcephaly
  3. hypotonia
  4. early onset Alzheimer’s
  5. small cerebellum and brainstem
  6. reduction of neurons and dendritic spines
  7. increased latency of response
  8. prolonged primitive reflexes
  9. delayed emergence of righting reaction
41
Q

Down Syndrome:

Immunologic

A 
suppressed immune systems
at risk for:
- leukemia
- chronic rhinitis
- chronic conjunctivitis
- fluid in middle ear
- ringworm and other rashes spread.
42
Q

Down Syndrome:

Life expectancy

A

55

43
Q

Down Syndrome:

Thyroid dysfunction

A
  1. hyper and hypothyroidism with aging. Hypo more common (40% of total)
  2. untreated hypothyroidism can mimic cog decline or early alzheimers
44
Q

Down Syndrome:

hypothyroid symptoms

A
  • mimic cog decline/early alzheimers
  • decreased energy
  • decreased motivation
  • weight gain
  • constipation
  • bradycardia
  • dry skin
45
Q

Down Syndrome:

Mitral prolapse

A

46-57%

  • can lead to endocarditis, CVA, HF
  • can occur w/o prior cardiac findings
  • early signs: fatigue, weight gain, dyspnea, bil crackles don’t clear w/cough, 3rd heart sound
46
Q

Down Syndrome:

Premature aging may lead to

A

early MSK disorders associated w/elderly

  • hip dysplasia w/dislocation
  • foot pronation
  • osteoporosis
47
Q

T/F:

Almost all adults w/ Down Syndrome over age 40 demonstrate Alzheimer’s Disease neuropathology

A

True

48
Q

T/F:

mental illness occurs in approximately 10% of all adults w/Down Syndrome

A

False

30%

49
Q

Turner Syndrome (45,x) characteristic impairments

A
  1. sexual infantilism
  2. congential webbed neck
  3. cubitus valgus

others:

  • dorsal edema hands/feet
  • hypertolerorism
  • epicanthal folds
  • ptosis upper eyelids
  • elongated ears
  • shortening of hand bones
50
Q

Turner Syndrome:

skeletal anomolies

A
  1. hip dislocation
  2. pes planus
  3. pes equinovarus
  4. dislocated patella
  5. deformity of medial tibial condyles
  6. scoliosis
51
Q

Marfan Syndrome

A

Mutation of gene coding for fibrillin protein leads to disruption of connective tissue in skeleton, eyes, and CV system

52
Q

Marfan Syndrome:

Skeletal symptoms

A
  1. long limbs, fingers, and toes
  2. hyperextensible joints
  3. deformed chest
53
Q

Marfan Syndrome:

Eye symptoms

A

dislocated lenses due to lax suspensory ligaments

54
Q

Marfan Syndrome:

CV symptoms

A
  1. aortic dilation w/valve regurgitation

2. aneurysm (dissecting)

55
Q

Cri-du-Chat

A
  1. (46, XY, del5p)
  2. Low birth weight
  3. Hypotonia
  4. feeding difficulties
  5. microcephaly
  6. micrognathia
  7. clumsiness
  8. hyperactivity
  9. mod-sever cog impairments

will have “cat like cry” as infants

56
Q

Prader Will is inherited from the _ while Angelman Syndrome is inherited from the _

A

father, mother

57
Q

Prader Willi:

infancy

A
  • failure to thrive
  • respiratory and feeding difficulties
  • severe hypotonia
58
Q

Prader Willi:

by 2 y.o.

A
  1. excessive eating may start
  2. obesity concern
  3. tone improves w/walking
59
Q

Prader Willi:

Behavioral issues

A
  1. temper tantrums
  2. stubbornness
  3. obsessive-compulsive
60
Q

T/F: Prader Willi has a wide range of cognition, from low normal to severely impaired

A

True

61
Q

Angelman Syndrome

A
  1. puppet like gait
  2. subtle dysmorphic facial features
  3. frequent inappropriate laughter
  4. ataxia
  5. seizure disorder
  6. sleep disorder
62
Q

Williams Syndrome

A

Disturbance in elastin gene

  1. CV disease
  2. elfin like face
  3. ADHD, LD, mild cog impairments
  4. decreased visuospatial skills
  5. laxity with later compensations
  6. sensory defensiveness
  7. tend to be musically talented
63
Q

What are the 3 types of Single Gene Disorders?

A
  1. Autosomal Dominant
    - osteogenesis imperfecta
    - tuberous sclerosis
    - neurofibromatosis
  2. Autosomal Recessive
    - CF
    - Hurler Syndrome
    - PKU
    - SMA
  3. Sex-Linked
    - hemophilia A
    - Fragile X
    - Lesch-Nyhan
    - Rett
64
Q

Fragile X Syndrome

A
  • Leading hereditary cause of developmental learning disorders
  • boys 2x as likely as girls
  • expansion of a CGG repeat in FMR1 gene leads to gene inactivation
65
Q

Muscular Dystrophy

A
  • group of hereditary myopathies
  • progressive muscle weakness, deterioration, destruction, and regeneration of muscle fibers
  • muscle fibers gradually replaced by fibrous and fatty tissues
66
Q

Muscular Dystrophy:

Becker

A
  1. 5-10 y.o
  2. X-linked
  3. Slowly progressive
  4. maintains walking past early teens
  5. life span into 30s
67
Q

Muscular Dystrophy:

Congenital

A
  1. At birth
  2. Recessive
  3. typically slow but variable
  4. shortened lifespan
68
Q

Muscular Dystrophy:

Congenital/myotonic

A
  1. at birth
  2. dominant
  3. typically slow
  4. significant intellectual impairment
69
Q

Muscular Dystrophy:

Child onset facioscaphum

A
  1. first decade
  2. dominant/recessive
  3. slowly progressive loss of walking in later life
  4. variable life expectancy
70
Q

Muscular Dystrophy:

Emery-Dreifus

A
  1. Childhood to early teens
  2. X-linked
  3. Slowly progressive cardiac abnormality
  4. normal life span
71
Q

Rett Syndrome

A
  1. progressive
  2. x-linked: almost exclusively in females (males rarely survive)
  3. normal development up to 6-18 months
  4. may see mild hypotonia, placid personality, and weak suck and cry
  5. head circumference decelerates from 3-48 months
72
Q

Rett Syndrome progression

A

Short period in which development stagnates followed by rapid regression in motor, language, and psychosocial functions

After rapid deterioration, becomes stable

73
Q

Rett Syndrome Symptoms

A
  1. loss of purposeful hand movements replaced w/hand wringing
  2. gait/truncal ataxia
  3. tremors
  4. apraxia
  5. autistic-like behavior
  6. bruxism, breathing irregularities
  7. GERD
  8. impaired bowel mobility
  9. LE vasomotor changes
  10. severe impaired language, cognition, and seizures
  11. dystonia in hand/foot deformities and kyphoscoliosis
  12. osteoporosis (early)
74
Q

Retts Syndrome:

when to expect fits of screaming and crying

A

18-24 months

75
Q

Metabolic disorders involve

A
  1. amino acid metabolism
  2. carbohydrate metabolism
  3. lysosomal storage
  4. urea cycle disorders
76
Q

Phenylketonuria

A

most common monogenic amino acid disorder

  • autosomal recessive
  • phenylalanine and phenylpyruvate accumulare in blood, appear in urine
  • symptoms include severe mental retardation
77
Q

Galactosemia

A

most common monogenic carbohydrate disorder

clinical signs:

  • failure to thrive
  • hepatic trouble
  • cataracts
  • development delay
78
Q

Lysosomal Storage Disease

A
  • deficiency of a lysosomal enzyme involved in breakdown of macromolecules within lysosomes
79
Q

Lysosomal Storage Disease:

Sphingolipidosis

A

involves a defect in degredation of sphingolipids.

leads to multiorgan dysfunction

80
Q

Neurofibromatosis Type 1

A

mutation of NF1 leads to loss of cell differetiation and uncontrolled cell growth

81
Q

NF1:

symptoms

A
  1. cafe-au-lait spots
  2. fibromas
  3. Lisch nodules in eyes
82
Q

traits in which variation is thought to be caused by combined effects of multiple genes

A

polygenic traits

83
Q

when environmental factors are also believed to cause variation in that trait

A

multifactorial

84
Q

Autism

A

severe neurodevelopmental disorder in which 15 susceptibility loci have been identified that each make additive contribution to phenotype

85
Q

Type 1 DM

A

thought to be autoimmune disorder involving immune destruction of beta cells

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