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Clin Med Fall 2015 > Sex Chromosome Disorders Test 2 > Flashcards

Sex Chromosome Disorders Test 2 Flashcards

1
Q

Turner Syndrome

Pathophysiology

A

45XO (gondal dysgenesis)

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2
Q

Turner Syndrome

Incidence

A

1: 2,500 female births, no correlation to advanced maternal age or paternal link
- most common chromosome cause of spontaneous abortions or miscarriage

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3
Q

Turner Syndrome physical features

A
  • webbed neck
  • cubital valgus
  • dorsal edema of hands and feet
  • hypertelorism (wide set eyes)
  • epicanthal folds
  • ptosis( dropping eyelids)
  • elongated ears
  • growth retardation
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4
Q

Turner Syndrome

other systems effected

A
  • congenital heart disease( septal defects, heart valve issues)
  • kidney malfunction
  • hearing loss
  • decreased gustatory and olfaction
  • deficits in spatial perception and orientation ( problems w/ motor function)
  • average intellect in most
  • sexual infantilism-don’t develop secondary sex characteristics (breasts, infertile)
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5
Q

Turner Syndrome -skeletal abnormalities

A
  • hip dislocation
  • foot deformities
  • osteoporosis-low estrogen levels-managed w/ meds
  • idiopathic scoliosis- no known cause
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6
Q

Klinefelter syndrome

A

47XXY

- increased levels of estrogen

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7
Q

Incidence of Klinefelter syndrome

A

1:1,000

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8
Q

Clinical Pic of Klinefelter syndrome

A
  • testes fail to enlarge
  • gynecomastia (male breast development)
  • normal IQ
  • sterility
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9
Q

Klinefelter syndrome ( severe karotypes)

A
  • severe MR
  • microcephaly
  • hypertelorism (wide set eyes)
  • strabismus
  • celft palate
  • radioulnar stenosis (limitations in pronation and supination
  • genu valgus
  • malformed cervical vertebrae( alignment /posture issue)
  • pes planus
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10
Q

Fragile X disease pathophysiology

A

structural abnormality of the X chromosome

- in females the 2nd X can compensate for abnormaility

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11
Q

Fragile X disease incidence

A

1:1,200 carried on in males

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12
Q

Clinical features of Fragile X disease

A
  • large head/ears/jaw
  • myopia (hard to see far away)
  • V-shaped palate
  • large testes
  • active/autistic ( hyperactive
  • not any major health issues -may be on track with motor development
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13
Q

Partial Deletion of chromosome

A
  • a section of a chromosome is missing
  • often has be been deleted in the replication process during meiosis (gametogenesis)
  • named by chromsosome # and location of deletion on the long or short arm (Q-long, P-short)
  • deletion may be on any autosome
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14
Q

Partial deletion Syndromes

A
  • Wolf-Hisrchhorn syndrome
  • Cri-du-Chat Syndrome
  • Prader Willi Syndrome
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15
Q

Wolf-Hisrchhorn syndrome pathophysiology

A
  • partial deletion syndrome

- 46XY-4P or 46XX-4P

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16
Q

Wolf-Hisrchhorn syndrome prevalance

A

120 cases as of 1992, 2010 ~500 individuals in US

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17
Q

Clinical features of Wolf-Hisrchhorn syndrome

A

-severe psychomotor and growth retardation
-hypertonicity
- seizures
-microcephaly
-hypertelorism
-cleft lip/palate
-heart malformation
-hip dislocation
-club feet ( PF, supination, Inversion)
(physical and cognitive features)

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18
Q

Cry-du-Chat syndrome pathophysiology

A
  • partial deletion syndrome

- 46XY-5p or 46XX-5p

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19
Q

Incidence of Cry-du-Chat syndrome

A

1:20,000

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20
Q

Clinical features of Cry-du-Chat syndrome

A

-high pitched cat like cry
-microcephaly
-intrauterine growth retardation
-hyperteleorism
-strabismus
-low set ears
-severe MR
- tone abnormalities ( typically increased)
-scoliosis
-hip dislocation
-club feet
-mid-line hair (synapharies)
-hyper-extensible fingers/toes ( increased lig. laxity)
respiratory and feeding problems
(typically very involved indiv. -PT works with positioning for breathing and feeding)

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21
Q

Prader Willi Syndrome pathophysiology

A

-partial deletion syndrome

46XY-15q or 46XX-15q

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22
Q

Incidence of Prader Willi Syndrome

A

1:10,000

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23
Q

Early Clinical features of Prader Willi Syndrome

A
  • hypotonia,
    -expressionless face
    -weak cry
    -poor feeding
    -slow weight gain
    -dysmorphic facial features
    ( may have dx of FTT, uninterested in environment, oral motor issues
    typically able to but delayed motor skills; walking running etc
    may have cognitive issues throughout life)
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24
Q

Late Clinical features of Prader Willi Syndrome

A
  • improved mm tone w/ coordination and motor delays
  • persistent/ compulsive appetite ( hyperphagia- overactive eating (food & nonfood substances))
  • obesity
  • hypogonadism (don’t develop sexually- male or female)
  • mild/moderate MR
  • maladapive behaviors( self-injury( head banging, picking, biting)
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25
Q

PT for Prader Willi Syndrome

A

early- assit w/ eating

late - physical act. to limit obesity

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26
Q

Autosomal Dominant disorders

A

results from an abnormality or mutation in a single gene

-abnormal or mutated gene overrides the normal allele inherited from the other parent

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27
Q

Osteogenesis Imperfecta phyophysiology

A

autosomal dominant disorders
deficits in collagen synthesis
-4 types
-different in tissue that are more or less involved
-typically type 4 is the most severe (only 25% of normal collagen is produced)

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28
Q

Osteogenesis Imperfecta incidence

A

1:20-30,000

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29
Q

Clinical picture of Osteogenesis Imperfecta

A

types I-IV,
-brittle bone
- hyperextensible lig (dislocations due to laxity)
-blue teeth
-blue sclera in eyes
-skeletal deformities
-small statue
-deafness
- small limbs
-respiratory prob (poor rib mobility, fx, harder to clear secretions)
(may have fx in utero bc tight space or during vaginal birth- C-section with prior knowledge)

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30
Q

Management of Osteogenesis Imperfecta

A
  • proper positioning of feeding /changing
  • may lve normal lifew/ major skeletal deformities
  • most non-ambulatory( trauma –> fx or hip dislocation)
  • just picking them up could lead to fx- pain mgmt
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31
Q

autosomal dominant disorders

A
  • Osteogenesis Imperfecta
  • Tuberous Sclerosis
  • Neurofibromatsis ( von Recklinghausen disease)
  • Huntingtons Chorea
  • Charcot-Marie-Tooth Disease
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32
Q

Tuberous Sclerosis pathophysiology

A

autosomal dominant disease

spontaneous mutation related to increased paternal age

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33
Q

Tuberous Sclerosis incidence

A

1:10,000

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34
Q

clinical pic of Tuberous Sclerosis

A

triad of symptoms
-seizures ( result of brain tissue tumor-typically astrocytes)
-MR
-sebaceous adenoma- sebaceous gland tumor or growth
(kidneys may be involved)

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35
Q

mgmt of-Tuberous Sclerosis

A

depending on size of tumor- may be able to remove if causing seizure
-txt for hydrocephalus

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36
Q

Neurofibromatsis ( von Recklinghausen disease) pathophysiology

A

autosomal dominant disease

- spontaneous mutation or family related

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37
Q

Neurofibromatsis ( von Recklinghausen disease) incidence

A

1:3,500

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38
Q

Clinical pic of Neurofibromatsis ( von Recklinghausen disease)

A

-cafe au lait spots,
-neuromfibroma ( growths on nerves -PNS/CNS-pain & disruption of function
-MR
-seizures
(motor/sensory/autonomic issues)
-may be painful/disfiguring, fatal or decreased life expectancy depending on location

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39
Q

mgmt of Neurofibromatsis ( von Recklinghausen disease)

A

go in and remove fibromas ( depends on location)

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40
Q

Huntington’s Chorea pathophsiology

A

gross atrophy of corpus striatum, neuronal degeneration caudate nucleus/ putamen/ deep nuclei, and frontal cortex

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41
Q

Huntington’s Chorea Incidence

A

6.5:100,000

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42
Q

clinical pic of Huntington’s Chorea

A

-choreic mvmts
-variable presentation / progression
(cognitive and motor issues)
-typical onset ~40 y/o (may not know before reproduce)

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43
Q

Huntington’s Chorea Mgmt

A

meds for choreic mvmts ( may have sedation effect)

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44
Q

Charcot-Marie-Tooth Disease pathophysiology

A

also known as heredity motor and sensory neuropathy or peroneal muscular atrophy (HMSN)

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45
Q

incidence of Charcot-Marie-Tooth Disease

A

1:2,500 births
- CMT-1
-CMT-2
-CMT-3
-CMT-4
-CMT X
differ in severity and function

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46
Q

clinical pic of Charcot-Marie-Tooth Disease

A

-significant weakness of foot/ leg
-pes cavus, foot drop, hammer toe
-may affect UE/hands
- motor and sensory loss~pain
-CMT-2 later stages :mm wasting/ atrophy in leg & foot
(inverted champagne botttle- hallux valgus& varus)

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47
Q

Charcot-Marie-Tooth Disease DX

A

w/ karyotype

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48
Q

Charcot-Marie-Tooth Disease Mgmt

A

strength & maintain ROM

-use orthoses to improve &maintain function and deformity

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49
Q

Autosomal Recessive

A

the allele is inherited from each parent is abnormal

  • combination of two alleles results in disease state
  • parents do not typically have the specific disease
50
Q

Autosomal Recessive

A
  • hurler syndrome
  • Phenylketonuria (PKU)
  • sickle cell anemia
  • Cystic Fibrosis
  • Wilson’s disease ( Hepatolenticular Degeneration)
  • Fredreich’s Ataxia (Hereditary Spinocerebellar Ataxia)
  • Krabbe’s Disease (Globoid Leukodystrophy, Galactosylceramide)
  • Tay Sachs
51
Q

Hurler’s Syndrome pathophysiology

A

aka: gargoylism & mucopolysacaridosis

- error in metabolism of polysaccrides- severely impacts other body systems

52
Q

Hurler’s Syndrome Incidence

A

1:100,000

53
Q

Hurler’s Syndrome Clinical picture

A

appear normal at birth with symptoms progressing over 1-3 y/o

  • facial deformity
  • progressive mental & physical deterioration
  • early death 2ndary to cardiac pathology
54
Q

Pheylketonuria pathophhysiology

A

-absence of phenylalanine hydroxylase prevents conversion of phenylanlaine to tyrosine ( increased phenylalanine–> CNS defects

55
Q

Pheylketonuria Incidence

A

1:10-15,000, northern european ancestery

56
Q

Pheylketonuria clinical pic

A
  • untreated causes Mental / growth retardation
  • seizures
  • movement disorders
57
Q

Pheylketonuria Mgmt

A
  • manage w/ diet; no diet pop, carbs (bread/ cereal)
  • caught early may have little to no CNS damage
  • caught late- severe CNS disorder
  • ongoing throughout life
58
Q

Sickle Cell Anemia pathophysiology

A
  • recessive autosomal
  • chronic hemolytic anemia
    -sickle shaped RBCs
  • inheritance of HbS
    (increased likelihood of coagulation–> clot-> stroke
    diminishes O2 carrying capacity)
59
Q

Sickle Cell Anemia Incidence

A

almost exclusively afroamericans

60
Q

Sickle Cell Anemia Clinical Pic

A
  • related to anemia and thrombosis/infarction
  • severe anemia
  • jaundice (body cant break down RBC to decrease bilirubin -> jaundice)
  • arthralgia
  • aseptic necrosis from femoral head (blood supply cut off due to blockage or disruption)
  • hemiplegia ( stroke in brain)
  • cranial nerve palsies( disruption of blood to CN or CN nuclei)
  • pulmonary and renal hemiplegia
61
Q

Sickle Cell Anemia Mgmt

A

blood transfusions

62
Q

Cystic Fibrosis pathophysiology

A

-effects exocrine ( excretes to outside environment) glands and sweat glands

63
Q

Cystic Fibrosis Incidence

A

1:2,000white, 1:17,000 afroamericans, rare in asians

64
Q

Clinical pic of Cystic Fibrosis

A

affects digestive and respiratory systems( enzymes not produced or in an ineffective form)
-decreases lifespan~20-30y/o ( increased risk of respiratory infection

65
Q

Wilison’s Disease

A

aka Hepatolenticular degeneration

66
Q

Wilison’s Disease pathophysiology

A

abnormality of copper metabolism/ accumulation of copper within body tissues
-onset 12-20 y/o (takes awhile to build up)
- unknown incidence
(metal in body is harmful multiple systems ; CNS, ie lead CNS porb~develop mental issues in children
intentional tremor- tremor w/ mvmt)

67
Q

Wilison’s Disease incidence

A

unknown

68
Q

Wilison’s Disease clinical pic

A
  • intention> resting tremors
  • choreoathetoid mvmts
  • rigidity
  • dysartrhia ( trouble speaking)
  • dementia
  • cirrhosis( toxic to liver, decreased function)
  • Kayser-Fleischer ring(orange copper colored ring around eye)
69
Q

Wilison’s Disease Mgmt

A
  • medication to help clear levels of copper
  • can’t reverse damage but prevent worsening
  • manage levels
70
Q

Fredreich’s Ataxia ( Heredity Spinocerebellar Ataxia) pathophysiology

A

-degeneration of posterior spinal root( sensory issues ), posterior spinal cord( cordination/ balancing issues/sequencing timing prob.), cerebellum, dorsal and ventral degeneration of spinocerebellar tracts and lateral corticospinal tracts

71
Q

Fredreich’s Ataxia ( Heredity Spinocerebellar Ataxia) Incidence

A

1-2:100,000

72
Q

Fredreich’s Ataxia ( Heredity Spinocerebellar Ataxia) Clinical Picture

A
  • ataxic gait
  • dysmetria of UE/LE ( issue w/ timing and accuracy of reach;reach past object-hypermetria, reach for object &fall short-hypometria)
  • speech disturbances
  • pes cavus
  • cardiomyopathies
  • disrthmia?- trouble w/ tongue and breathing sequencing problems
73
Q

Fredreich’s Ataxia ( Heredity Spinocerebellar Ataxia) Mgmt

A
  • supportive

- gait

74
Q

Krabbe’s Disease (Globoid Leukodystrophy, Galactosylceramide) pathophysiology

A

deficiency of gaslactocerebroside B-galactosidase

75
Q

Krabbe’s Disease (Globoid Leukodystrophy, Galactosylceramide) Incidence

A

1:100,000-200,000

76
Q

Krabbe’s Disease (Globoid Leukodystrophy, Galactosylceramide) Clinical Picture

A

-may appear normal at birth
-progressive retardation
-paralysis
-blindness
-deafness
-pseudobulbar palsy
-fatal generally within 2 years
(may have CP presentation, effects CN, may live to be older- hunter kelly 7ish )

77
Q

Krabbe’s Disease (Globoid Leukodystrophy, Galactosylceramide) Mgmt

A
  • supportive
  • rare
  • don’t typically have successful txt ( hard to deliver, blood brain barrier)
  • identification is hard
78
Q

Tay Sachs Pathophysiology

A

genetic mutation on chromosomes 15q

  • inability to produce hexosaminidase
  • CNS degenation
79
Q

Tay Sachs Clinical Picture

A
  • decline in infant ( early death, develop in utero-see by 3-6mo, die by 4-5 y/o, juvenile~less common)
  • blind/ deaf
  • decreased eye contact
  • decreased strength
  • decreased life expectancy (death at a young age)
  • delay or decline in motor control
  • seizures
  • dementia
80
Q

Tay Sachs Prevalence

A

-more prevalence in Ashkenazi jewish community bc they all marry each other (high as 1/27 births)

81
Q

Tay Sachs Mgmt

A

-supportive

82
Q

X-linked Recessive Inheritance

A

-also called sex linked inheritance
-only males affected
- females are carriers
-family history: normal females and affected males
(females extra X chromosome~ may see some characteristic w/ disease process but don’t have disease)

83
Q

Sex linked inherited disorders

A
  • Lowe’s syndrome ( Oculocerebrorenal)
  • Lesch-Nyhan Syndrome ( Heredity Choreathetosis)
  • Hemophilias
  • Muscular dystrophy
84
Q

-Lowe’s syndrome ( Oculocerebrorenal) pathophysiology

A
  • sex linked disorder

- metabolic acidosis develops by 6 mo

85
Q

Lowe’s syndrome ( Oculocerebrorenal) Incidence

A

rare, all male

86
Q

Lowe’s syndrome ( Oculocerebrorenal) Clinical Pic

A

-progressive MR
-renal dysfunction (inability to balance)
- cortical cataracts( center of eye(
-glaucoma ( build-up of pressure in eyes)
-demyelination
-gliosis(reaction of glia cells to damage, compensate for damage~proliferation of astrocytes&olgiodentrites)
-hypotonicity
-growth retardation
- failure to thrive
-piercing cry
-death 2ndary to renal failure
( eyes/kidneys/CNS affected, may not be evident at birth by 6 mo begin to develop signs/symptoms, decline in cognitive function)

87
Q

Lowe’s syndrome ( Oculocerebrorenal) Mgmt

A

-supportive

88
Q

Lesch-Nyhan Syndrome ( Heredity Choreathetosis) pathophysiology

A

overproduction of uric acid causing deficiency in hypoxanthine-guaninephospho-robosyltransferase (HGPRT) in brain, liver and amniotic cells

  • issues in brain, liver & amniotic cells as developing
  • difficulty swallowing /speaking
89
Q

Lesch-Nyhan Syndrome ( Heredity Choreathetosis) Incidence

A

1:10,000 males

90
Q

Lesch-Nyhan Syndrome ( Heredity Choreathetosis) Clinical Picture

A
  • appear normal at birth
  • at 1-2 y/o begin self mutilation
  • normal pain perception
  • progressive spastic paresis/plegia by 1 y/o
  • chorea
  • tremor
  • growth retardation
  • dysarthria
  • dyspahgia
  • MR
  • skeletal deformity (bony deformity, contractures, scoliosis)
91
Q

Lesch-Nyhan Syndrome ( Heredity Choreathetosis) Mgmt

A

meds to manage levels of uric acid

92
Q

Hemophilias pathophysiology

A

bleeding disorders due to inherited deficiencies or abnormalities of coagulation factors

  • inability to clot
  • or increased brusing to less force
  • minor injury could be life threatening
93
Q

Hemophilias Incidence

A

1:10,000 males (female transmit abnormal gene)

94
Q

Hemophilias Clinical features

A
  • hemarthrosis( blood in joint, painful/inflamed/ degeneration of joint over time)
  • hemotoma
  • hemauria
  • hemorrhages from minor injuries
95
Q

Muscular Dystophy

A

-sex linked disorder
Types
-Duchenne’s MD (pseudohypertrophic MD, Progressive MD [at mm level])
-X-linked
-Becker’s X-linked
-Congenital Autosomal Recessive
-Congenital Myotonic Autosomal Dominant
-Childhood Onset Facioscapulohumeral (affects proximal UE)
-Emery-Dreifus
-Spinal muscular atrophy ( ant horn cells)
( all slightly different clinical pictures/time onset/challenges/severity of impairments)

96
Q

Pathophysiology of Muscular Dystrophy- Duschenne’s

A

-mutation of dytropha?
(protein on the level of the sarcomere that helps to rebuild mm when stressed or damaged)
-mm strain/stress leads to damage -not able to be repaired- mm tissue is replaced w/ connective tissue and fat: pseuohypertrophy)
-mm less effective at generating force
-affects all skeletal mm
-leads to death (bc involves diaphragm-respiratory death)
-less able to clear secretions, increased risk of iinfection

97
Q

Muscular Dystrophy- Duschenne’s Incidence

A

20-30/100,000 live births, males only

98
Q

Muscular Dystrophy- Duschenne’s : Grower’s Sign

A

characteristic way of getting off the floor
-apparent issue by 2 y/o, child is becoming weaker
-child attempts to get off floor using UE for help
( floor-> bear walk postion-> walk up legs to get into standing, due to decreased hip/knee ext.)

99
Q

Muscular Dystrophy- Duschenne’s Clinical Picture

A

–apparent weakness at 2 y/o
-unable to walk by 9-10 y/o
-clumsy, fall down
-waddling gait w/trendelemburg
-trouble w/ standing
-weakness occurs proximal -> distal * hips/shldrs
-psuedohypertrophied gastrocs
-hip flexor contracture
-increased lumbar extension
-hang out on lig.
use wheelchair~typically not self propelled (power WC) bc increased damage to mm
-linked to scoliosis-when no longer can walk
-may use stander walker or tilt table to decrease risk of scoliosis
-may result in restrictive lung disease bc of atrophy in diaphragm and rib mm

100
Q

Muscular Dystrophy- Duschenne’s Mgmt

A
  • manage symptoms
  • typically only live into early 20s
  • often trached to help breathe and clear secretions
  • ventilators can be attached to WC
101
Q

Dx of Muscular Dystrophy- Duschenne’s

A
  • mm biopsy (punch biopsy)
  • genetic testing
  • mm EMG
  • look at serum enzymes (CPK- increased levels in blood with damage to mm)
  • use U.S. to examine heart
102
Q

Spinal Muscular Atrophy pathophysiology

A

-type of muscular dystrophy
-disease in ant horn cells
-accelerated rate of neuronal cell apoptosis
(damage at mm level or lack of innervation -> mm damage, both have increased CPK)
-4 types

103
Q

Spinal Muscular Atrophy Incidence

A

1/6,000

-more common in males and more severe in males

104
Q

Dx of Spinal Muscular Atrophy

A
  • serum enzymes (CPK
  • EMG
  • mm biopsy
105
Q

Types of Spinal Muscular Atrophy

A

4

106
Q

Type I of Spinal Muscular Atrophy

A
  • more severe
  • affects younger infants( birth to first few mo)
  • decreased life expectancy
107
Q

Type II of Spinal Muscular Atrophy

A
  • onset 6-12 mo

- live awhile , progresses slower

108
Q

Type III of Spinal Muscular Atrophy

A

-early childhood 3-5 to adolescence

109
Q

Type IV of Spinal Muscular Atrophy

A
  • after 30 y/o
  • maintain higher level of function
  • weak, develop contractures
  • use of mobility based ADs
  • decreases life expectancy
110
Q

Multifactorial disorders

A
  • combination of genetic and environmental factors are thought to create certain birth defects
  • cleft palate
  • Spinia Bifida (myelomeningocele)
  • heart disease
  • diabetes
111
Q

Cleft Palate

A

environmental and genetic predispostion

  • unable to breathe /suck/ swallow
  • cannot close mouth around bottle or nipple
  • can fix within few mo of life or wait if medically unstable or cleft closed-only lip affected
  • can have w/out other disease processes
112
Q

Spinia Bifida (myelomeningocele)

A

folic acid deficiency

-genetic predisposition

113
Q

Diabetes

A

type I -genetic predispostion or environmental virus-> autosomal effect

114
Q

Cornelia DeLang Syndrome pathophysiology

A

unknown, Mediterranean background

-possible genetic link & environmental factors

115
Q

Cornelia DeLang Syndrome Incidence

A

unknown, several cases in western NY

116
Q

CLinical Presentation of Cornelia DeLang Syndrome

A

-hairy
-synapheries
-severe MR
-congenitally malformed limbs
-very small statue (limbs& trunk)
(may have absence of bone or shortened and unable to function)

117
Q

Cornelia DeLang Syndrome Mgmt

A

supportive

118
Q

Torsion Dystonia pathophysiology

A

genetically linked progressive disorder

119
Q

Torsion Dystonia Incidence

A

rare

120
Q

Torsion Dystonia Clinical Picture

A

-gradual onset of slow spasmodic, twisting mvmts causing dystonia
(challenging to develop and maintain function)

Clin Med Fall 2015 (10 decks)

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