Case 11: Duchenne Muscular Dystrophy (exam 2) Flashcards
Which distinctive examination sign may be associated with the diagnosis of DMD?
A. Babinski’s
B. Thomas test
C. Gowers’
D. Homan’s
C The Gowers’ sign is a hallmark of DMD.
*Babinskis: UMN, Thomas: hip flexor tightness, Homan’s: DVT
Which of the following is appropriate to assess function and participation in the DMD population?
A. Timed Up and Go
B. Range of motion
C. Functional Reach Test
D. Egen Klassification Scale
D. Egen Klassification Scale: contains Functional measures
Based on the young male in the case study, which of the following represent the most critical interventions?
A.Preserve functional upper extremity use, monitor for worsening scoliosis and decreased respiratory function
B. Preserve lower extremity use, stretching, accessing the environment
C. Wheelchair mobility, home adaptations
D. Emphasize re-acquiring ambulation within his home
Option A
since D is not realistic for his med diagnosis, and B/C were already in place for him (but these are important)
The use of systemic _____ prolongs ambulation and quality of life in individuals with Duchenne muscular dystrophy
grade B evidence
glucocorticoids
Scores on the ____ _ can predict the need for ventilatory support and ongoing loss of physical function in the DMD population.
Egen Klassification Scale
grade B evidence
____ exercise of the legs and arms delays the progressive weakness and functional loss characteristic of DMD disease progression.
grade B evidence
Assistive bicycle
Enzyme that catalyzes the conversion of adenosine diphosphate (ADP) and phosphocreatine into adenosine triphosphate (ATP) and creatine; expressed in many tissues, but in higher concentrations in the brain, striated muscle, and other tissues that rapidly regenerate ATP
CREATINE KINASE (also known as creatine phosphokinase
When an individual rises from the floor using a 4-point stance placing hands on the knees and then hyperextending the knees while pushing on the thighs to compensate for hip extension weakness
GOWERS’ SIGN: key exam sign
Excess carbon dioxide (CO2) in the blood; usually results from lung disease, hypoventilation, or impaired consciousness
HYPERCAPNIA
Increase in the size of a muscle that is not due to an increase in the size of individual skeletal muscle fibers; in DMD, muscles are replaced by fibrous tissue and fat.
PSEUDOHYPERTROPHY
Enzyme that catalyzes the transfer of an amino group from one molecular group to another, which is an important process in forming amino acids in the metabolism of proteins; elevated transaminase levels in the blood may indicate liver dysfunction
TRANSAMINASE
PT goals/POC for children with DMD
maximize: safe participation and function at home/community
positioning to minimize contractures
ROM, strength, endurance, maintain RESPIRATORY STATUS
transfers
standing/ambulation training, max independence, promote self advocacy
PT interventions for children with DMD
practice WC navigation
strength, ROM, respiratory program, WS in WC and bed
promote self advocacy in daily tasks and activities
family education
PT precautions for DMD
- No resisted or forceful ROM to the extremities or trunk due to **high fracture risk **and damage to muscles
- pain, weakness, fatigue
- assistance with WB activities required during transfers to decrease risk of fall or injury
- close monitoring of **skin **when wearing orthoses
progressive neuromuscular disorder characterized by a predictable pattern of muscle group deterioration that leads to atrophy, progressive weakness, deformity, contracture, and progressive disability.
caused by genetic mutation, so patients lack protein dystrophin
Duchenne’s Muscular Dystrophy
Presence of __ and ___ in males suggest DMD and require further testing. What age do symptoms present? What age is average diagnosis?
Gower’s sign and pseudohypertrophy
ss: 2.5 years
Dx: 4.9 years
Early signs and symptoms of children with DMD
delayed motor development
abnormal walking and running
decreased stair ability, getting up from floor
frequent falls
What is a typical gait pattern for a patient with DMD?
anterior pelvic tilt
increased lumbar lordosis
waddling gait
foot pronation and eversion
*toe walking may present to stabilize knee
*weak neck flexors, shoulder girdle, abs, and hip mm occur early
In untreated males with DMD, ambulation typically ceases at __ to ___ of age; 80% of these children develop scoliosis after they stop walking.
10 to 12 years
contractures frequently affect what muscles by 13 years of age in kids with DMD?
wrist and elbow flexors
knee flexors and PFs
iliotibial bands
Behavioral studies have identified that boys with DMD have speech delays, cognitive impairment, and a lower IQ (average 85)
T or F
True
PROS: systemic glucocorticoids can help with ambulating longer, decrease need for spinal stabilization, decrease rate of lung dysfunction, and postpone need for nasal intermittent positive pressure ventilation.
CONS: What are ADRs of using glucocorticoids for ppl with DMD?
- decreased height and increased weight (most common)
- vertebral and limb fx more common
- more likely to get cataracts
What are 2 appropriate self report participation measures to give a patient with DMD?
CAPE (Children’s Assessment of Participation and Enjoyment)
PedsQL (Pediatric Quality of Life Inventory)
6 minute walk test is an outcome measure recently performed in DMD population. What is a better test for non-ambulatory patients?
GSGC: Gait, Stair, Gower and Chair Assessment
UE: Brooke Scale and Jebsen Hand Function Test
LE: Modified Vignos Lower Extremity Scale (specific for MD)
The scale predicts ongoing loss of physical ability in individuals
with DMD. It has ten categories, namely: the ability to use a wheelchair, transfer from a wheelchair, balance in the wheelchair, stand, move arms, use hands and arms for eating, turn in bed, cough, speak, and physical well-being. Performance on the EK scale, in combination with forced vital capacity (FVC%), has been found to predict the need for assisted ventilation.
Egen Klassification Scale (EK scale).
PREDICTS ONGOING LOSS OF PHYSICAL ABILITY FOR DMD
5 Stages of DMD
- presymptomatic
- early ambulatory
- late ambulatory
- early non-ambulatory
- late non-ambulatory
T or F: Strengthening exercises result in increased strength in the DMD population
F: results in no change in strength
however, no change is good compared to decline
“No Use is DisUse”
Since death usually results from respiratory deficiency, PT interventions should include breathing, coughing training.
What kind of breathing helps prolong use of vent and decreases vent-assisted breathes?
Glossopharyngeal breathing (frog breathing)
