Chap 40 - Developmetnal Alterations Of Musculosketal Function Flashcards
Scoliosis
Abnormal rotational curvature of spine
-more common in adoscleent girls than boys
Non structural scoliosis
Causes other than spine itself
Structural scoliosis
Cause is vertebral rotation
Idiopathic scoliosis
May be genetic and accounts for 80% of cases
Congenial scoliosis
Bone deformity occurring before birth
Tetralogical scoliosis
Caused by another systemic syndrome such as cerebral palsy
Idiopathic curves progress while
A child is growing and rapidly progress during growth spurts
Efficiency of treatment for scoliosis is based off of
Total number of hours a brace is worn
Girls are 5x mroe likely to be affected
WhenCurves >20%
Bracing is required when
Curves >25%
Curves >50%
Kyphosis
-require spinal fusion to stop progression
Bracing is less effective in
Confidential and tetralogical
-surgery is usually required
Effects of >60 degrees
Reduced pulmonary function
Effects of >80%
Right side heart failure
Thoracic and lumbar deformity effects
GI disturbances
Muscular dystrophy: duchenne muscular dystrophy is caused by
X linked mutations in dystrophin gene which leads to alteration and deletion of muscle protein dystrophin
Most common childhood dystrophy is
Muscular dystrophy: duchenne muscular dystrophy
Dystrophin is involved in
Anchoring actin cytoskeleton of muscle fibres to basement membrane
Poorly anchored fibres
Tear themselves apart during repeated contraction = free calcium enters muscle cell = cell death
Manifestations in Muscular dystrophy: duchenne muscular dystrophy
-pre school children = muscle weakness
-difficulty walking
-large calves due to muscle fiber replacement with fat and connective tissue
-pelvic area weakness
Diagnosis for Muscular dystrophy: duchenne muscular dystrophy
-blood creatine kinase which can be 100 times normal level
-positive result = genetic testing for dystrophin gene to confirm diagnosis
Muscular dystrophy: myotonic muscular dystrophy is caused by
Mutations in one of two genes
-type 1 MMD is dmpk gene
-type 2 is CNBP gene
Type 1 MMD display
A genetic mechanism called anticipation
-where children born of mothers with MMD have a more severe form of MMD
Disease hallmark of Muscular dystrophy: myotonic muscular dystrophy
Myotonia (difficulty relaxing muscle after contraction, like relaxing hand grip after handshake)
Symptoms of Muscular dystrophy: myotonic muscular dystrophy
Muscle weakness, cataracts, cardiac conditions, often require wheelchair
Diagnosis for Muscular dystrophy: myotonic muscular dystrophy
Testing for two genes that cause MMD
-specific mutation with both genes of repeated expression of CTG triplet
-could be 50 to 2000 repeats
TX for Muscular dystrophy: myotonic muscular dystrophy
Steroids are ineffective
-but range of motion exercises, bracing and surgical release of contractures are effective