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28 Cards in this Set
- Front
- Back
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Muscular dystrophy (MD)
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genetic disorder; progressive loss of muscle contractibility. There are many types.
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MD diagnosed by:
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EMG, muscle biopsy, DNA analysis, and assayed from blood sample
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MD classified by:
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Mode of inheritance
Age at onset Rate of progression Localization of involvement Muscular changes Genetic markers |
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Duchenne MD
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Most common x-linked disorder.
1:3500 live male births Longevity is variable- late teens to twenties. |
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Duchenne-Infancy/preschool:
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No significant impairments.
Symptoms seldom noted before 3-5 years of age. Mean age of diagnosis- 5 years Possible delayed ambulation onset, which rarely leads to diagnosis. |
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Duchenne-early school age
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Usually includes clumsiness, falling, and inability to keep up with peers.
Increased difficulty standing from the floor or stair climbing- Gower's sign Gait changes: trendelenburg pattern, toe walking, and shoulder retraction with lack of arm swing. |
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Duchenne- adolescent period
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Significant disability progression.
Increased muscle weakness or contractures. Decline in ability to ambulate |
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Duchenne- transition to adulthood
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Continued progression with reliance on assistive technology.
Mobility via power wheelchair. Cognition remains intact Respiratory insufficiency is the sign of the pre-terminal stage. |
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Exercise intervention in MD
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Controversial. Overexertion and immobility are both detrimental.
Submaximal exercise and ROM if not too burdensome to the family. |
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Becker MD
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Slower progressing variant of Duchenne MD.
Lifespan to the forties Mean age of onset- 11 Loss of ambulation- 27 |
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Discriminate between Becker and Duchenne MD
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By age 11, 97% of those with Duchenne are using a wheelchair for mobilty. 97% of those with Becker are still walking.
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Facioscapulohumeral MD
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3-10 per million.
Autosomal dominant or recessive defect of 4q35 Males and females affected equally. Muscle weakness in face and shoulder girdle in infancy and preschool. School age weakness progresses to pelvic girdle, some relying on a power wheelchair by the end of adolescence. |
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What's the most common adult-onset neuromuscular disease?
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Myotonic MD (1:8000)
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Congenital myotonic MD
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Rare and children are almost exclusively born to mothers with myotonic MD.
Hypotonia and weakness at birth. If survive first few weeks of life, prognosis is one of slow steady improvement. |
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SMA
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2nd most common group of fatal recessive diseases after cystic fibrosis.
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Type 1 SMA
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onset 0-3 months
Rapidly progressing Severe hypotonia Death within first year |
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Type 2 SMA
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Onset 3 months-4 years
Rapid progress with stabilization Moderate-severe hypotonia Shortened lifespan |
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Type 3 SMA
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Onset 5-10 years
Slowly progressive Mild impairment |
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Type 4 SMA
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Adult onset
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How do you determine necessary equipment?
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Observe child in activities and determine what's difficult for them, ask parents, teachers, etc.
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What are standers used for?
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Kids who can't stand independently, but need weight bearing to model bones.
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Gait trainers vs. walkers
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Gait trainers are difficult to get in and out of independently, but allow arms to be free.
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Theratogs
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Used similar to kinesiotape to provide proprioception, posture, etc.
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Bath chair
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Child with decreased head control, harder for parent to control in the bath.
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Car seat
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Normally only support 25-45 pounds and don't provide extra head support.
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Adaptive feeding equipment
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Heavy enough to slow process, larger grip, less slippery.
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After determining which equipment you need, you must say why...
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How is the equipment medically necessary?
How will it improve the child's life: how will it make them more independent and improve their QOL? |
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Parts of the LMN
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Detail the client- who are they socially, medically, and functionally? Typical day? What equipment do they have and why isn't it meeting their needs?
Explain how piece of equipment will help child achieve functional goals/outcomes. If able, trial proposed equipment and state results of the trial. Describe equipment: does it allow growth, have a warranty, have customizable factors? Supporting material: research, pictures, videos, etc. |
