Duchenne Muscular Dystrophy and Pediatric NM Flashcards
What us type II sma
survival into adulthood, with diasbility
proximal weakness, able to sit, but not able to walk
What is Type III SMA
> age of 18 months
proximal weakness, able to walk but may lose ability
normal survival
What is Type I SMA
age of onset <6 months
severe hypotonia, never able to sit
survival: death/ventilation by 2 years
What are signs associated with SMA?
slip through, tongue fasiculations, gait: proximal weakness
What is type four SMA?
age of onset over 30
mild motor impairment
normal survival
What are the signs and symptoms for non-sitters?
postural control difficulties contractures chest-wall deformities plagiocephaly pain fatigue impaired mobility hip dislocation skin breakdown fractures impaired pulm function
What are S&S for sitters with SMA?
postural control diffficulties contractures scoliosis and pelvic obliquity cehst wall deform impaired mobility impaired pulm func deformation of feet hand tremors fractures
What are the S&S for walkers with SMA?
muscle weakness asymmetry impaired mobility fatigue falls fractures contractures and inflexibillity reduced endurance hand tremors
What are interventions for non-sitters?
tummy time, eary WB stander, contracture prevention, optimize posture via positioning and bracing
What are interventions for sitters?
strength– tummy time, aqua therapy, hippotherapy, adaptive sports
developemmntal strength via tranistional movements (rolling, kneeling, half kneeling, crawling, supported standind)
contracture prevetion (bracing, standers, orthotics)
What are interventions for walkers?
endurance training: adaptive sports, recumbant biking, aqau
transitional (STS and step ups)
Fall recovery activities (crawling, floor to stand)
strength (yoga, eliptical, BW training, aqua
What are signs of weakness associated with DMD?
head laf (DMD and SMA) Gower's sign difficulty climbing stairs muscle hypertrophy (primarily in calves) cognitive/language involvement
At what age is prominent muscle weakness observed in DMD?
age 5
What defines the early stage of DMD?
diagnosis
early ambulatory
What defines the transitional stage?
late ambulatory
early non–ambulatory
What defines late stage of DMD
late stage (adult)
What is the NM managment for DMD?
assess function every 6 months, strength, and ROM
discussion/initiate steriods
What is the rehab management for DMD
comprehensive multidisciplinary assessments
provide treatment via therapies
prevent contractures, falls moving towards providing mobility devices
What is the ortho management for DMD?
asses ROM every 6 motnhs
monitor scoliosis annually
What are the test and measures specific to DMD.BMD?
north star ambulatory assessment (NSAA)
timed function tests: timed to rise from floor, 10 meter walk run , 4 stair climb test
What are DMD/BMD care considerations for treatment interveentions?
passive and active stretching
maintain strength: bike riding and swimming, avoid over exercising, use RPE
non-fatiguing exercises(weaker within 30 min, excessive soreness 24-48 hours is too fatiguing,
avoid eccentrics and overexertion due to increased muscle damage
breathing exercise
physical fitness and activity
equipment needs
What treatments are for early stage DMD?
stretching, night splinting, 504 plan, strength activites, parent/child education, aquatics
What treatments are for transitional stage DMD?
activity and respiratory exercise, squatic exer ise, eduction of school personnel and family on transfers, home accessibility
What treatments are for late non-ambulatory stage DMD ?
equipment, resporiatory management, aquatic exercise, pain, palliative care
What are participation measures used for DMD?
children’s assessment of participation and enjoyment (CAPE) (6-21)
pediatric quality of life inventory
young children’s participation and environment measure (YCPEM) (age 0-5)
participation and environment measure for children and youth (PEM-CY) (age 5-17)
Why do you not recommend AFO for DMD?
puts eccentric force on the quad
What is DMD?
duchenne muscular dystrophy is an X linked inherited NM disease causing progressive muscular atrophy that leads to the loss of ambulation in childhood
What is becker musclar dystrophy
milder phenotype of this same disease
What is DMD caused by?
deletion, duplication, or point mutation on the Xp21 gene that is responsible for a protein called dystrophin
What does an in-frame mutation
/
in frame mutation maintains more of the genetic code, allowing for the production of a semi-functional dystrophin protein and leading to what is clinically diagnosed as BMD
what is an out of frame mutation
disrupts the genetic code so that no functional dystrophin protein is produced, resulting in DMD
Where is the dystrophin protein located?
within the sarcolemma and is part of the dystrophing glycoprotein complex
What does the dystrophin protein to?
links the actin cytoskeleton to the extracellular matrix, stabilizing the structure of the cell membrane during repeated muscle contractions
supports the structure of the muscle cell membrane by sensing mechanical stress and regulating the influx of molecules into and out of the muscle cell
Where is dystrophin found?
cardiacn and smooth muscle
small isoforms are found in the brain, retina, liver, and Schwann cells
What are the primary impairments in DBMD?
muscle cell atrophy and fibrosis
What are secondar impairments of DBMD?
muscle weakness, joint contracture, posture and gait deficits , cognitve deficits, cardiomyopathy, respiratory conditions
What is involved in the newborn screening?
use of CK testing
What is elevated in boys with DBMD?
CreatineKinase (CK) 10-100 times the normal amount
What are the signs and symptoms of NM conditions?
weakness, low tone (hypotonia), decreased or absent reflexes
What should you know to diagnose a NM condition?
history – pre/peri/post natal and developmental milestones/course of condition
examination– giat, calves, weakness in infant, aposity of movements
diagnostics– CK testin, genetic testing
At what age does DMD present itself?
3-5 yeard of age
What are common signs of DMD
large calves, proximal muscle weakness, gower’s maneuver,
classic gait pattern– trendelenburg, wide BOS, increase lordotic posture
What is spinal muscular atrophy (SMA)
autosomal recessive, motor neuron disease, diagnosed by genetic testing
What are the 3 classic childhood phenotypes of SMA?
Type 1=non-sitters
Tyep 2=sitters
Type 3=walkers
What are the SMA common signs?
low tones proximal >distal weakness decreased or absent reflexes smart hand tremor(high frequency low amp. tremor)
What are some medical coomplications involved with SMA?
pulmonary, nutritional and orthopedic
What are the three FDA approved treatments for SMA?
Nusinersen (spinraza)=lumbar puncture every 4 months– makes more SMN protein (short RNA sequence that binds near exon 7– antisence oliconucleotide)– reverses symptoms in SMA patients
Zolgensma= gene therapy for those less than 2, stops the progression of SMA, includes a gene and a vector (can cause liver injury/failure)
ridiplan= daily oral, affects fertility
What is the number one genetic cause of infant death?
spinal muscular atrophy
What does SMA cause?
motor neuron death, missing or non-working motor neuron – responsible for eating, breathing, sitting up. walking
SMN1 is damaged or gone
What is CMT
group of like diseases caused by inherited genetic mutations., damgages the peripheral nerves outside the brain and sppinal cord
What disease is characterized by muscle wasting due to anterior horn cells?
SMA
