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