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Pathology > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

0
Q

Genetic

A

Defects caused by genes (Ex. Trisomy 21)

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1
Q

Congenital

A

Defects present at birth

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2
Q

Hereditary

A

Defects passed from one generation to the next through genes (Ex. Hemophilia )

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3
Q

XX produces …

A

A female

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4
Q

XY produces ….

A

A male

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5
Q

There are 3 major types of monogenic disorders ( Disorders caused by 1 gene)

A
  1. Autosomal recessive (Cystic Fibrosis, Sickle Cell Anemia)
  2. Autosomal dominant ( BRCA 1, BRCA 2, Marfan Syndrome, Huntington Chorea)
  3. X or sex- linked ( Color Blind, Hemophilia, Duchene muscular dystrophy)
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6
Q

Autosomal Recessive

A

For an autosomal recessive gene to be expressed the individual must carry a pair of the genes. Ex. Cystic Fibrosis, Sickle cell anemia

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7
Q

Autosomal Dominate

A
  1. You only need to get the abnormal gene from one parent in order for you to inherit the disease
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8
Q

What is dominant inheritance means

A

An abnormal gene from one parent is capable of causing disease even though the matching gene from the other parent is normal. The abnormal gene “dominates” the pair of genes.

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9
Q

Autosomal dominate. If two carriers of a dominate gene produce offspring…

A

3 out of 4 (75%) of the offspring carry the gene and may express the trait.

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10
Q

X- linked recessive

A
  1. Sex-linked diseases are inherited through one of the “sex chromosomes” - the X or Y chromosomes.
  2. Normally, an individual would need to inherit 2 recessive genes for the disease to be expressed.
  3. The gene on the Y chromosome does not exert an influence over the X.
  4. The gene on the X chromosome is allowed to exert its influence.
  5. The woman is usually the carrier and her sons will have a 50% of inheriting the disease.
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11
Q

Hereditary disorders are subset of…

A

Chromosomal disorders

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12
Q

Penetrance

A

The proportion of individuals carrying a particular variation of a gene that also express an associated trait.

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13
Q

What is multi-factorial disorders:

A

Congenital disorders that have a combinations of causes.

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14
Q

Congenital anomalies:

A
  1. Structural defects present at birth

2. Congenital anomalies may be inherited or sporadic, isolated or multiple, apparent or hidden, gross or microscopic.

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15
Q

Down Syndrome D/S

A

The most commonly inherited chromosomal disorder. Characterized:

  1. Hypotonia
  2. Cognitive delay
  3. Abnormal facial features
  4. Distinctive physical abnormalities
  5. Developmental delay
  6. The incidence rises with maternal and paternal age.
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16
Q

Down Syndrome E/T

A

Trisomy 21. A small number of cases results from translocation of chromosome 15/21/22. Cause is unknown at this time.

17
Q

Down Syndrome D/X

A
  1. Phenotype: Flatten-nasal Bridges, almond eye shape, short limbs, mild to moderate hypotonia.
  2. Orthopedic problems: recurrent patella dislocation, excessive foot pronation, scoliosis, slipped capital epiphysis, late hip dislocation, atlantoaxial instability.
  3. Feeding difficulty.
  4. Developmental delay
18
Q

Down Syndrome T/X

A

Depending on functional loss

19
Q

Down Syndrome P/P

A

Dependent on problems. Alzheimer disease prevalent as the individual ages.

20
Q

Down Syndrome Implications for the PTA

A
  1. Manifestations of Down syndrome are variable with some individuals dependent on others and other individuals able to manage independently.
  2. Low tone and hypermobility may contribute to the child’s difficulty with Motor development.
  3. Cognitive deficits may make working with these children challenging.
  4. Atlantoaxial instability of the cervical spine may place limitations on treatment.
  5. Goal for the individuals to reach their maximum level of independence.
21
Q

Down Syndrome. Implications for the physical therapist assistant

A 
Older individuals with down syndrome present special challenges.
Obesity
Diabetes Mellitus
Cardiovascular disease
Osteoarthritis
Osteoporosis 
Alzheimer' Disease
22
Q

Duchenne Muscular Dystrophy D/S

A

Progressive bilateral wasting of skeletal muscles-shoulder and pelvic girdle with pseudohepertrophy of the calves secondary to fat desposition.

23
Q

Duchenne Muscular Dystrophy E/T

A

Result of x-linked recessive disorder, affects male children

24
Q

Duchenne Muscular Dystrophy S/S

A

Exhibits waddling gait, toe- walking, lordosis, falls easily, contractures.

25
Q

Duchenne Muscular Dystrophy D/X

A

Family history, clinical picture, muscle biopsy, EMG

26
Q

Duchenne Muscular Dystrophy T/X

A

None known, treatment to correct, preserve mobility, PT, orthopedic appliances, surgery.

27
Q

Duchenne Muscular Dystrophy P/P

A

Poor, death ( usually in the 20s) results from cardiac or respiratory complications/ genetic counseling for carriers

28
Q

Duchenne muscular dystrophy/ implications for the PTA

A

Major problems: weakness, decrease ROM, impaired functional activities which worsens as the disease progress.
Strengthening:STRENUOUS EXERCISE MAY CAUSE FURTHER BREAKDOWN OF THE MUSCLE FIBERS!
Strenuous exercise/ eccentric contractions are contraindicated.
Re-education (instructing the patient in adapting functional activities to their weakness)
Assistive devices to maintain function.

29
Q

Gower’s maneuver

A

A technique for rising from the floor when the pelvic musculature is weak.

30
Q

Cystic Fibrosis D/S

A

Disorder of exocrine ( exocrine glands are glands whose secretions pass into a system of ducts that lead ultimately to the exterior of the body) glands with copious amounts of thick mucus; affects lungs, pancreas

31
Q

Cystic Fibrosis E/T

A

Biochemical defect as autosomal recessive trait

32
Q

Cystic Fibrosis S/S

A

Increased salt in sweat, wheezy respirations, dry cough, Dyspnea, tachypnea

33
Q

Cystic Fibrosis D/X

A

Inherited (autosomal recessive) disorder of ion transport (sodium and chloride) in the exocrine glands affecting the hepatic/ digestive/ male reproductive ( the vas deferens is disrupted in nearly all cases), and respiratory systems.

34
Q

Cystic Fibrosis T/X

A 
1. Pharmacology:
A. RhDNAase: Decrease sputum viscosity/ increase mucociliary viscosity
B. Antibiotics: Reduce inflammation
C. Supplementation: Digestive enzymes/vitamins
2. Gene therapy (future)
3. Transplantation (lung/liver)
4. Supportive therapy
5. Physical therapy
35
Q

Cystic Fibrosis P/P

A

Improving: No known cure. Prognosis is improving. Average lifespan as 2008 was 37.4 years

36
Q

Cystic Fibrosis GI:

A
  1. Meconium ileum (distal intestinal obstruction syndrome): small intestine is blocked by meconium ( baby poop)
  2. Prolapse of the rectum
  3. Crohn’s disease
  4. Ischemic bowel disease
  5. Prolonged use of pancreatic enzymes: fibrosis f the colon
37
Q

Clinical manifestations of Cystic Fibrosis: Pulmonary

A
  1. Purulent sputum production
  2. Chronic cough
  3. Retained mucus medium for infection
  4. Reduced O2 and CO2 exchange leads to hypoxia clubbing: cyanosis, acidosis, hypercapnia
38
Q

Clinical manifestations of Cystic Fibrosis / Genitourinary

A
  1. infertility is universal in men secondary to malformation of the vas deferens
  2. Infertility is common in women secondary to thick mucus in the cervical canal prevents conception
  3. Amenorrhea common in women as the disease progresses
39
Q

Clinical Manifestations of Cystic Fibrosis/ Musculoskeletal

A

Muscle pain

Decreased bone mineral density (kyphosis, neck and back pain

Pathology (6 decks)

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