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Pathology: Genetics & Developmental Disorders
PT & genetics & develpment disorders
45
Health Care
Graduate
10/17/2011

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Cards

Term
Ms.sk. or orhtopedic problems in down syndrome
Definition
secondary to tissue laxity and ms hypotonia
- recurrent patella & hip dislocation
- excessive foot pronation
- slipped capital femoral epiphysis
- AAI of C-spine (lax transver ligament of atlas & odontoid maldevelopment)
- scoliosis
mild to mod hypotonia
pelvic dysplasia
jt hyperextensibilty- jt laxity
Term
Scoliosis
Definition
abnormal lat. curvature of spine
Term
kyphosis
Definition
ant concave curvature of v. column (normal- thoracic & sacral regions)
Term
lordosis
Definition
ant convex curvature of v. column (normal- lumbar regions)
Term
Classifications of scoliosis
Definition
functional & structural scoliosis
Term
functional scoliosis
Definition
caused by factors other than vertebral involvement (pain, poor posture, uneven leg length, ms spasm due to herniated disk, spondylolithesis)
Term
structural scoliosis
Definition
fixed curvature assoc w/ vertebral rotation & asymmetry of ligamentous support structure (idopathic, congenital, ms.sk., neuroms, trauma)
Term
scoliosis clinical manifestations
Definition
uneven shulders
1 shoulder blade appearing more prominent than the other
uneven waist
1 hip higher than the other
leaning to one side
Term
scoliosis diagnosis
Definition
physical exam, scoliometer, x-ray of spine (diagnosis, curve angle, monitor Tx decisions)
Term
scoliosis inteventions
Definition
prevention of post/idiopathc structural scoliosis
screen for early detection & intervention
PT and exercise
spinal bracing
surgery
Term
Kyphoscoliosis (scheurmann Dz, juvenile kyphosis, vertebral epiphysis)
Definition
increased kyphosis in thoracic or thoracolumbar spine or assoc backache & localized changes in v. bodies.
Term
clinical manifestations of kyphoscoliosis
Definition
deformity seen best in flex, decreased spine flexibility, tendernes w/ palpation above & below apex of kyphosis, hyperlordosis of Lspine, thoracolumbar kyphosis, HS tightness, rare neurologic deficits
Term
diagnosis of kyphoscoliosis
Definition
lat radiograph of spine
Term
treatment of kyphoscoliosis
Definition
based on age, severity, progression of curve & symptoms
meds (NSAIDS for pain), temporary activity restriction when pain aggravated, bracing, surgical
Term
Types of spina bifida
Definition
spina bifida occulta, spina bifida mengiocele, spina bifida myelomengocele
Term
spina bifida occulta
Definition
imcomplete fusion of post. vert. arch, no extrusion of meninges, dimple or tuff of hair at site, no neurologic dysfx.
Term
spina bifida myelo meningocele
Definition
protrusion of both meninges & S.C., permanent neurologic impairment, high risk for infection, accompanied by hydrocephalus, flaccid/spastic paralysis, bowel/bladder incont, ms.sk. deformities, mental retardation, scoliosis, hip dypslasia/dislocation, club foot, hip & knee ctxs.
Term
Spina bifida meningocele
Definition
sac-like meningeal cyst protruding outside spine thru spine cleft, rarely causes neurologic dysfx.
Term
Developmental dysplasia of the hip (DDH)
Definition
an abnormal formation of hip jt in which femoral head isnt properly positioned or stable in the jt socket (acetabulum)
Term
DDH stats
Definition
common in infants and children
8.6-11.5/1000 births
85% females
25% bilat
75% single hip (75% L hip)
Term
DDH risk factors
Definition
obstetric conditions (breech delivery), family Hx, female, scoliosis, spina bifida, torticollis, 1st pregnancies, mutiple fetuses, oligohydraminos, ethnic groups (Native Americans, Laplanders)
Term
DDH forms
Definition
1. unstable- nl position but dislocated w/ manipulation
2. sublaxation/imcomplete- partially displaced
3. Complete- totally outside acetabulum
Term
DDH clinical manifestations
Definition
asym in ROM in hip (abd), asym in buttock fold/gluteal fold, extra thigh skin folds, leg length discrepancy, tredlenburg or waddle gait
Term
Tx goals of DDH
Definition
ensure stability of fem head in socket
encourage development of normally shaped socket & femoral head
Term
Spinal Ms Dystrophy
Definition
N.ms. dz of progressive weakness and wasting of sk. ms. resulting from spinal ant horn cell degeneratiion, autosomal recessive disorder (progressive infantile SMA & floppy infant syndrome)
Term
torticollis
Definition
congenital ms torticollis (CMT), wry neck -- unilat spasmodic ctx of SCM of neck that results in head tilting to affected side & rotated so that chin points to op side
Term
clinical manifestations of torticollis
Definition
firm, nontender palpable enlargement of SCM or shortened/fibrotic SCM, severe/ untreated = cranial asym. "oblique head"
Term
Tx of torticollis
Definition
- PT to correct positional effect, cervical collar, special designed helmet for craniofacial asym. correction, surgery (signif motion restriction >30 degrees after 6 mo or deformity persists pasty 12 mo)
Term
Muscular Dystrophy (MD)
Definition
largest and most common group of inherited progressive n.ms. disorders of childhood, genetic anomaly (mutation of dystrophin gene)
Term
clinical manifestations of MD
Definition
ms weakness, wasting, hypotonia
Term
Major types of MD
Definition
duchenne, beckers, facioscapulohumeral, limb girdle, myotonic
Term
duchenne's (pseudo hypertrophic)
Definition
most common, x-linked recessive, onset (~2-4y/o): gomer's sign, fall frequently, waddling gait, pseudohypertrophy of calves, Prognosis: rapidly progrssive (loss of walking by 9-10 y/o, death in 20s)
Term
beckers
Definition
x-linked recessive, onset: 5-10 y/o, Prognosis: slowly progressive, walk maintained past early teens, lifespan until adulthood
Term
facioscapulohumeral
Definition
autosominal dominant/ recessive, onset: adloscent, Prognosis: slowly progressive; varies mild impaiment to loss of walking in later life
Term
limb girdle MD
Definition
autosominal recessive/dominant, onset: late adolescence, prognosis: slowly progressive, mild impairment
Term
myotonic MD
Definition
autosominal dominant, onset: variable, prognosis: rate of progression dep on age of onset
Term
MD diagnosis
Definition
clinical presentation, family Hx, EMG, ms biopsy, serum enzymes
Term
Treatmen of MD
Definition
PT, surgery, a.d. to prolong fx
Term
Erb's palsy
Definition
paralysis of upper limb resulting from nerve injury of brachial plexus at birth due to forced stretch
Term
Types of Erb's palsy
Definition
Erb Duchennes (C5-6)
Whole arm (C5-T1)
Klumpke's (C8-T)
Term
Diagnosis of Erb's palsy
Definition
clinical manifestation, MRI to detect lesion, EMG
Term
treatment of erb's palsy
Definition
early PT, neonatal/ped. neurosurgery for avulsion repair, post surgery PT
Term
Osteogenic imperfecta (brittle bones)
Definition
rare congenital disorder of collagen synthesis (mutation of gene coded for type 1 collagen)
Term
clinical manifestation of osteogenesis imperfecta
Definition
abnormal fragility & plasticity of bone w/ recurring fx's from trauma, long bone deformity, blueness of sclera, laxity of ligaments
Term
treatment of osteogenesis imperfecta
Definition
orthopedic management, Fx prevention, Fx care, PT (prevent bone lose, build bone density, strengthen ms)
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