Week 5 Flashcards
In what population is Duchenne Muscular Dystrophy most popular?
1/3500 live male births
What kind of disorder is duchenne muscular dystrophy?
Most common X-linked disorder
What is the underlying pathology of duchenne muscular dystrophy?
The lack of protein dystrophin, which plays a key role in maintaining the integrity of the cell membranes of skeletal and cardiac muscle, which will ultimately lead to degeneration of muscle fibers
At what age is duchenne muscular dystrophy usually diagnosed?
Typical diagnosis by age 5
What are the signs, symptoms and impairments that is seen in duchenne muscular dystrophy?
- Progressive weakness, that typically affects muscles in the neck, abs, interscapular(why we see a lot of winging), hip extensors
- Enlarged calves, which is known as pseudohypertrophy
- Lordosis posture
- Wide based gait/toe walking gait patten
- Clumsiness, frequent falls, and stumbling
- Gower’s sign is a very common red flag
What is pseudohypertrophy?
The sign of where muscle starts to break down and gets replaced by fat and connective tissue and is most commonly seen in the calves, but can also be found in the deltoids, quads and forearm extensors
How will a child with duchenne muscular dystrophy raises themselves up from the floor as seen with the Gower’s sign?
They will begin in a quadriped, to a plantar grade on hand and feet position, and in order to stand up, they will need to walk their arms up their legs
What is the typical presentation of a 6-8 year old child with duchenne muscular dystrophy?
Stair climbing difficulties, and gait deviations
What is the typical presentation of a 8-10 year old child with duchenne muscular dystrophy?
Decreased vital capacity, and falls
What is the typical presentation of an adolescent with duchenne muscular dystrophy?
Walking is lost (age 12 typically, but can be as early as 10 and as late as 14)
What are the medical interventions for a child with duchenne muscular dystrophy?
- Promoting the production of dystrophin or diminishing the consequences of hypoxia and fibrosis
- Genetic therapy research
- Steroid Therapy
What are the characteristics of steroid therapy for the treatment of duchenne muscular dystrophy?
- Long term use
- Prolonged walking up to 3 years
- Improved pulmonary function
- Side effects including weight gain, growth suppression, cataracts, and osteoporosis
When are surgical intervention methods used for a child with duchenne muscular dystrophy?
- Surgery for contractures that impact ADLs, or functional mobility
- Significant scoliosis
Why is night time BiPAP a medical intervention for patients with duchenne muscular dystrophy?
To help with pulmonary function
What are the activity/participation limitations seen in children with duchenne muscular dystrophy?
- Slower gait speed
- Difficulty rising from the floor
- Stairs
- ADLs, including dressing, eating, and self care
- Progressive difficulty keeping up with peers
What are the PT interventions used for patients with duchenne muscular dystrophy?
- Family support and education
- ROM/stretching/night splinting, depending on the stage of the disease the child is in
- No eccentric exercise
- Avoid fatigue in order to avoid microtears, which can make exercise detrimental
- Submaximal, function based
- Breathing exercises
- Adapted mobility, home modifications like scooters or powered wheelchairs
- Balance the Risk:Benefit
What are the characteristics of Becker Muscular Dystrophy?
- Variant of DMD
- Insufficient dystrophin
- Dx late made in childhood/adolescence
- Longevity into the forties
What are the characteristics of Congenital Muscular Dystrophy?
- Has many forms
- Onset in utero or in first year
- Symptoms, and weakness will be evident in infancy
- Also a very long term functional outcomes, due to the many forms
What causes spinal muscular atrophy and what does it result in?
A recessive gene, and results in the loss of anterior horn cells
There are 4 types of spinal muscular atrophy. When is their onset?
- Types I – III: childhood onset
* Type IV: adult onset SMA
What are the characteristics of SMA Type I?
- Also known as Werdnig-Hoffmann
- Onset 0-4 months
- Rapidly progressive
- Mortality 1-10 years
What are the characteristics of SMA Type II?
- Childhood onset
- 6-12 mos
- Initial progression is quick, then slowly progressive
- Longevity in to adulthood
What are the characteristics of SMA Type III?
- Also known as Kugelberg-Welander disease
- Onset 1-10 years
- Slowly progressive, mild/moderate impairment
What does PT interventions mostly focus on for muscular dystrophies?
- Family support and education
- Similar management
- Driven by patient abilities and goals
- Functional independence
- Interventions at a submax intensity
- Posture and breathing control
- Adaptive mobility
- Environmental modifications in the home, school and work
What are the characteristics of metatarsus adductus?
• Commonly found in newborns
What causes metatarsus adductus?
Packaging deformity or posture of the infants feet while in utero which can be due to the position of the baby in utero r being stuck for a period of time for any number of reasons
What is the physical presentation of metatarsus adductus?
Adducted forefoot, curved lateral border and neutral heel
• “bean shape” sole of foot
What are the classifications(ability of the foot to reduce or flex past midline) of metatarsus adductus?
- Flexible: reduces past midline and has normal ROM
- Moderately Flexible: might get to midline, but does not have full ROM
- Severe: rigid, not reducable and can’t get to midline
What are the treatment options of metatarsus adductus?
• Class I corrects by 4-6mos (90-95% of all cases) • Class II might be treated with stretching or corrective shoes, some facilitation of active eversion and DF. HEP • Class III casting or surgery, corrective shoes
What does the acronym CAVE stand for in reference to the presentation of clubfoot?
- C: Cavus (supinated midfoot)
- A: Adductus (forefoot is adducted medially)
- V: Varus (hindfoot is in calcaneal varus)
- E: Equinus (lack of dorsiflexion)
There is a wide spectrum of presentations for clubfoot, from a mild, postural form to a severe, rigid deformity. What is a severe/rigid presentation usually associated with?
Usually associated with arthrogryposis, myelomeningocele, Larsen syndrome, or other underlying disorder
How is clubfoot diagnosed?
Often dx prenatally via ultrasound
What are the treatment approaches for clubfoot?
• Best results if initiated within 24-72 hours from birth; but not
emergent. Typical treatment starts a week to 2 weeks after birth
• Ponsetti Casting/serial casting –> splinting and stretching x 3 months –> nighttime bracing 2-4 years
• French Physical Therapy Method (same with casting but with tape and done daily, successful in inpatient settings)
• Surgery: posterior Achilles
tenotomy- lengthening of the achilles tendon
• “Hybrid” models
What are the mechanical causes of Developmental Dysplasia of the Hip (DDH)?
A condition where a baby is typically breached(feet down) at birth, and there is less room for the feet to move
What are some other causes of Developmental Dysplasia of the Hip (DDH)?
Maternal hormonal influence, so it is seen more in females, because it is said that females are more receptive to the mom’s hormones of estrogen and relaxin, making their ligaments looser and more flexible, thus increasing risk of subluxation and dislocation
What are the environmental causes for Developmental Dysplasia of the Hip (DDH)?
Swaddling practices and cultural differences in child bearing
What are the ROM presentations of patients with Developmental Dysplasia of the Hip (DDH)?
- Most infants have 75-90 degrees of abduction
- Significant asymmetry of 5-10 degrees of ABD can indicate hip dysplasia
- Asymmetrical thigh folds, apparent femoral shortening (galeazzi sign), positive barlow/ortalani tests
- Difficulty changing diapers
What are the ortiloni and barlow tests?
Tests performed on the baby’s hips, to put the hip in a position of risk of dislocation, so if the baby has hip dysplasia, a clunk of the hip relocating and dislocating will be felt. They become less useful as the baby gets older
What is the difference between the clinical signs: click and a clunk seen in children with Developmental Dysplasia of the Hip (DDH)?
- A clunk is the sound of the hip dislocating and relocating
- Clicks are sounds of the joint space moving and some relative instability. They are very common to find in the 1st 3-7 days of life
True or False
Clicks are more concerning than clunks
FALSE, Clicks are NOT more concerning than clunks. Clunks are definitely more concerning
What type of diagnostic testing should be done in the newborn population with suspicion of Developmental Dysplasia of the Hip (DDH)?
Ultrasound
After 2-3 months of life, what is the typical presentation of the child with Developmental Dysplasia of the Hip (DDH)?
Limited hip abduction is usually the only sign of dysplasia. Diagnostic test of an x-ray will be performed, because there will be more ossification of the bones
After more than 18 months of life, what is the typical presentation of the child with Developmental Dysplasia of the Hip (DDH)?
Gait deviations
• Waddle (if the dislocation is bilateral)
• Limp ( if the dislocation is unilateral
True or False
There is usually pain involved with Developmental Dysplasia of the Hip (DDH)?
False, there is usually NO pain involved with Developmental Dysplasia of the Hip (DDH)?
How is Developmental Dysplasia of the Hip (DDH) treated from new born to 9months?
Pavlik Harness. A soft flexible harness that is worn for a few months until we get acetabular deepening. The child can be bathed and dressed in this harness
How is Developmental Dysplasia of the Hip (DDH) treated from 6-18months?
Closed Reduction/Spica Cast. General anesthesia is used for when the orthopedist relocates the hip and applies spica cast for 3-4 months
How is Developmental Dysplasia of the Hip (DDH) treated for children older than 18 months?
Open Reduction / Spica Cast. Opening the joint space, sometimes tendon lengthening is done. Spica cast is applied for 3-4 months
What is the most common cause of acute limping in the toddler/young child population?
Infection, with the most common being osteomyelitis and septic arthritis
What are the characteristics of osteomyelitis as seen in the toddler/young child population?
• Bone infection • Typically bacterial infection (spread infection, trauma, spontaneous) • Sudden and rapid onset • Mostly affects long bones/LE
What is the treatment for osteomyelitis as seen in the toddler/young child population?
IV and oral antibiotics, following surgical incision and drainage (I&D)
What are the characteristics of septic arthritis as seen in the toddler/young child population?
- Infection of the joint space
- Bacterial
- Destruction of articular cartilage
- 80% occur in LE
What is the treatment for septic arthritis as seen in the toddler/young child population?
Joint aspiration and oral/IV
antibiotics
What is Legg Calve Perthes?
Ischemic Necrosis/AVN of the femoral head, which happens more commonly in males than in females, and is usually unilateral and generally self- limiting, with re-vascularization occurring over time
What are the symptoms of Legg Calve Perthes?
- Limp
- Pain in groin/anteromedial thigh
- Trendelenburg/abductor lurch type gait
- Limited hip abduction and internal rotation
What are the treatment goals of Legg Calve Perthes?
Prevent deformation of the femoral head and maintain ROM. This can be done through PT interventions such as:
- Strengthening of the hip musculature, PROM and AROM exercises, orthosis, or a petri casting(immobilizing the hip to prevent further damage)
OR surgery, which is usually the last resort. Total hip replacement if enough necrosis has ocurred
What is a Slipped Capital Femoral Epiphysis (SCFE)?
A condition where the growth plate of the proximal femoral physis is weak and becomes displaced. **slipping of the growth plate from the femoral head)