Q3: OA, CMT, & Down Syndrome Flashcards

1
Q

Definition

OA

A

chronic degenerative joint condition; “wear & tear”
Impacts the entire joint by destroying the articular cartilage

Osteophytes (bone spurs) form from friction

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2
Q

Etiology - Primary Form

OA

A

Abnormal stresses and mechanics

  • age
  • heredity
  • obesity
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3
Q

Etiology - Secondary Form

OA

A
  • Deformity (congenital)
  • Trauma
  • Avascular Necrosis
  • Bone disorders/Osteoporosis
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4
Q

Clinical Significance

OA

A

Pain is not enough to bill for an orthosis; need a functional deficit for Ox

Deformities will most likely cause OA over time

Osteophyte formation

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5
Q

Clinical Presentation

OA

A
  • Arthralgia
  • antalgic gait
  • geriatric
  • crepitus
  • decreased ROM
  • effusion (joint swelling)
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6
Q

Diagnostic Techniques

OA

A
  • Clinical Exam
  • Radiographs
  • Blood Tests
  • Gait Evaluation
  • Shoe Evaluation
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7
Q

Grading/Classification System

OA

A

Kellgren and Lawrence System
Graded 1 (minor) to 4 (severe)

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8
Q

Non-Ox Intervention

OA

A

Goal - minimize pain/maximize function
* Lifestyle changes - open chain exercise; weightloss
* PT - home exercise; assistive devices
* Pharmacology - Oral/Topical/IA injections
* Sx - arthroscopy, arthroplasty, arthrodesis, Sx realignment

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9
Q

Ox Intervention

OA

A

Realign or encourage better joint position; maintain function until Sx
* Gauntlet
* Heel cup
* FO
* Rocker bottom

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10
Q

Definition

CMT

A
  • spectrum of disorders caused by genetic mutations
  • progressive distal muscle weakness and atrophy
  • not curable but not fatal
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11
Q

Etiology

CMT

A

Most common inherited peripheral neuropathy

Classifications 1-7, X

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12
Q

Desciptions - Demyelination

CMT

A

direct damage to the myelin sheath

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13
Q

Descriptions - Axonal

CMT

A

Damages nerve axons

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14
Q

Desciption - Intermediate

CMT

A

characteristics of both demyelinating and axonal

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15
Q

Clinical Presentation

CMT

A

Pes cavus, pain, atrophy, fatigue, tremors

  • B/L presentation
  • decreased reflexes
  • speech/ear/vision problems
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16
Q

Clinical Significance

CMT

A
  • initial symptoms - childhood/early adulthood
  • B/L distal neuropathy
  • poor balance
  • atrophy
  • deformities
  • gait deviations
  • calluses
  • sprains
17
Q

Diagnostic Techniques

CMT

A
  • History/Physical
  • Clinical Exam
  • Genetic Testing for type
  • Nerve Tests (EMG [speed] & NCV/NCS [function])
18
Q

Classification System

CMT

A

Number - Type
Letter - Subgroup

CMT1 - demyelinating
CMT2 - axonal
CMT4 - recessive inheritance
CMTX - X linked

19
Q

Non-Ox Intervention

CMT

A

PT/OT - ROM, contractures, assistive devices
Pharmacology
Therapy (increased depression in this population)
Sx - plantar fasciotomy, tendon release, arthrodesis, osteotomy

20
Q

Ox Intervention

CMT

A

Goal: realign/improve joint position for max. stability; increase functinal mobility
FOs to AFOs (large range of devices)

21
Q

Definition

Down Syndrome

A

Occurs with a partial or full extra copy of 21st chromosome

22
Q

Three types

Down Syndrome

A
  1. Trisomy 21 - extra copy
  2. Translocater - part of 21 breaks off and joins another chromosome
  3. Mosaicism - mixture of two types
23
Q

Etiology

Down Syndrome

A

Maternal age is a contributing factor; 5% of cases attributed to the father

24
Q

Clinical Presentation

Down Syndrome

A
  • Hypotonia
  • Ligament Laxity
  • Pes Planovalgus
  • hallux valgus
  • wide toe spaces
  • foot pain (later development)
  • poor balance
  • autism
  • hearing/vision problems
  • heart defects
25
Q

Clinical Significance

Down Syndrome

A

Decreased attention span; longer learning time
Delayed language
Impulsive behavior
Intellectual delays

BE PATIENT

26
Q

Diagnostic Techniques - Prenatal

Down Syndrome

A

Screening - only for likelihood
Diagnostic test may increase risk to fetus
Samples from:
* amniotic fluid
* placenta
* umbilical cord blood

27
Q

Diagnostic Techniques - Postnatal

Down Syndrome

A
  • Physical Exam
  • History
  • Blood test from infant
28
Q

Non-Ox Intervention

Down Syndrome

A
  • PT/OT/ST - expand skills, increase muscle, boost confidence, improve speech
  • Hippotherapy - on a horse
  • Dietician
  • Early Intervention Programs
  • Therapy