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Peds > Genetic Syndromes Affecting Movement > Flashcards

Genetic Syndromes Affecting Movement Flashcards

1
Q

Codon

A

Triplet sequence of nucleotides, determines specific AA that is inserted into a protein

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2
Q

Locus

A

Specific location of a gene on a chromosome

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3
Q

Polymorphism

A

Altered gene sequence that does not cause disease

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4
Q

Single point mutation

A

Base pair substitution that may lead to AA change

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5
Q

Deletion or insertion mutation

A

May result in missing or extra AA potential changes all down stream AA

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6
Q

Trisomy 21

A

Down syndrome

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7
Q

Trisomy 18

A

Edwards syndrome

Second most common trisomy observed in babies

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8
Q

Trisomy 18 survival

A

Edwards
Mean survival is 2 weeks
90% die in first year

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9
Q

Cri du chat syndrome

A

85% due to spontaneous deletion
Cat like cry in infant, LBW, hypotonia, feeding difficulties, failure to thrive, microcephalic, small jaw, wide mouth wide set eyes, w/ downward sloping palpebral fissures, epicanthic folds, strabismus, low set ears, broad nasal ridge

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10
Q

Cri du chat characteristics

A

Clumsiness and hyperactivity w/ repetitive body movements
Chronic sleep disturbances
Mod to sever intellectual disabilities
50% can comm by age 10
Self injurious, hypersensitivity to sound, obsessive attachment to objects

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11
Q

Syndromes w/ deletion of long arm chromosome 15

A

Prader-will I syndrome (father)

angel man syndrome (mother)

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12
Q

Prader wili syndrome infancy

A

Diminished fetal activity, respiratory and feeding difficulties in infancy
Excessive eating

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13
Q

Prader Willi cog

A

Intelligence range form normal to low/mod disability
Behavioral: tantrum, stubbornness, manipulative, autism, ADHD, OCD
Motor milestones twice typical

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14
Q

Prader wili morphology

A 
hypotonia, 
decreasede pigment of skin and eyes
Short stature, 
small hands and feet, 
small genitalia, 
hypogonadism
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15
Q

Angel man syndrome

A

Severe learning difficulties, ataxia with jerky movevements, puppet like gait, seizure disorder, sleep disorder
Frequent and sometimes inappropriate laughter
Expressive speech is rare
Sign language recommended

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16
Q

Angelman subtle dystrophin facial features

A 
Wide
Smiling mouth 
Maxillary hypoplasia
Prominent chin
Deep set, often pale blue eyes
17
Q

X linked recessive disorders

A

Duchenne MD
Hemophilia A
May skip a generation w/ females as carriers

18
Q

X linked dominant

A

Fragile x

Rett syndrome

19
Q

most common recessive x linked disorder

A

Duchenne MD

20
Q

defective lack of clotting factor VII

A

Hemophilia A

21
Q

Most common type of inherited intellectual disability

A

Fragile X

22
Q

Fragile x

A

Females more midly affected

Delay in language/conversational speech

23
Q

Fragile x cog

A 
Cog dysfunctions, 
ADHD 
Autism 
Anxiety
Epilepsy
Abnormal gaze
Stereotypical hand flapping/biting
24
Q

Fragile x facial features

A

Elongated faces
Large ears
Prominent mandible

25
Q

Fragile x motor

A

Hypotonia
Joint hypermobility
Tactile defensiveness
Early motor developmental delay

26
Q

Rett syndrome

A 
Progressive neruodevelopmental 
Almost exclusively in females
Normal preg
Typical development til 6-19 mo 
<6m mild hypotonia, placid personality, weak suck and cry
27
Q

Rett stage 1

A

Early onset developmental stagnation
Plateau in skills b/n 6-18m
Head growth decelerates resulting in microcephalic

28
Q

Rett Stage 2

A 
Rapid destructive phase (1-3 yrs)
Stereotyped hand movement, wringing
Ataxia, tremor, apraxia, intermitten esotropia, autistic like behavior, teeth grind, breathing, GERD, impaired bowel mobility 
Expressive and receptive lang imp
Severe cog impair
29
Q

Rett stage 3

A 
Begins b/n 2-10 yr
Can last for many yrs
Increased seizure
Kyphoscoliosis and hand deformities must be managed aggressively 
Osteoporosis - fx risk 
Amb varies from non amb to (I) w/out AD
30
Q

Rett stage 4

A

Late motor deterioration (after age 10)
May last years to decades
Reduced mobility, muscle weakness, joint contractures and scoliosis.

Peds (18 decks)

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