Q3: OA, CMT, & Down Syndrome Flashcards
Definition
OA
chronic degenerative joint condition; “wear & tear”
Impacts the entire joint by destroying the articular cartilage
Osteophytes (bone spurs) form from friction
Etiology - Primary Form
OA
Abnormal stresses and mechanics
- age
- heredity
- obesity
Etiology - Secondary Form
OA
- Deformity (congenital)
- Trauma
- Avascular Necrosis
- Bone disorders/Osteoporosis
Clinical Significance
OA
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
Clinical Presentation
OA
- Arthralgia
- antalgic gait
- geriatric
- crepitus
- decreased ROM
- effusion (joint swelling)
Diagnostic Techniques
OA
- Clinical Exam
- Radiographs
- Blood Tests
- Gait Evaluation
- Shoe Evaluation
Grading/Classification System
OA
Kellgren and Lawrence System
Graded 1 (minor) to 4 (severe)
Non-Ox Intervention
OA
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
Ox Intervention
OA
Realign or encourage better joint position; maintain function until Sx
* Gauntlet
* Heel cup
* FO
* Rocker bottom
Definition
CMT
- spectrum of disorders caused by genetic mutations
- progressive distal muscle weakness and atrophy
- not curable but not fatal
Etiology
CMT
Most common inherited peripheral neuropathy
Classifications 1-7, X
Desciptions - Demyelination
CMT
direct damage to the myelin sheath
Descriptions - Axonal
CMT
Damages nerve axons
Desciption - Intermediate
CMT
characteristics of both demyelinating and axonal
Clinical Presentation
CMT
Pes cavus, pain, atrophy, fatigue, tremors
- B/L presentation
- decreased reflexes
- speech/ear/vision problems
Clinical Significance
CMT
- initial symptoms - childhood/early adulthood
- B/L distal neuropathy
- poor balance
- atrophy
- deformities
- gait deviations
- calluses
- sprains
Diagnostic Techniques
CMT
- History/Physical
- Clinical Exam
- Genetic Testing for type
- Nerve Tests (EMG [speed] & NCV/NCS [function])
Classification System
CMT
Number - Type
Letter - Subgroup
CMT1 - demyelinating
CMT2 - axonal
CMT4 - recessive inheritance
CMTX - X linked
Non-Ox Intervention
CMT
PT/OT - ROM, contractures, assistive devices
Pharmacology
Therapy (increased depression in this population)
Sx - plantar fasciotomy, tendon release, arthrodesis, osteotomy
Ox Intervention
CMT
Goal: realign/improve joint position for max. stability; increase functinal mobility
FOs to AFOs (large range of devices)
Definition
Down Syndrome
Occurs with a partial or full extra copy of 21st chromosome
Three types
Down Syndrome
- Trisomy 21 - extra copy
- Translocater - part of 21 breaks off and joins another chromosome
- Mosaicism - mixture of two types
Etiology
Down Syndrome
Maternal age is a contributing factor; 5% of cases attributed to the father
Clinical Presentation
Down Syndrome
- Hypotonia
- Ligament Laxity
- Pes Planovalgus
- hallux valgus
- wide toe spaces
- foot pain (later development)
- poor balance
- autism
- hearing/vision problems
- heart defects
Clinical Significance
Down Syndrome
Decreased attention span; longer learning time
Delayed language
Impulsive behavior
Intellectual delays
BE PATIENT
Diagnostic Techniques - Prenatal
Down Syndrome
Screening - only for likelihood
Diagnostic test may increase risk to fetus
Samples from:
* amniotic fluid
* placenta
* umbilical cord blood
Diagnostic Techniques - Postnatal
Down Syndrome
- Physical Exam
- History
- Blood test from infant
Non-Ox Intervention
Down Syndrome
- PT/OT/ST - expand skills, increase muscle, boost confidence, improve speech
- Hippotherapy - on a horse
- Dietician
- Early Intervention Programs
- Therapy
